MEDICAL RADIOLOGY

Diagnostic Imaging
Softcover Edition

Editors:
A. 1. Baert, Leuven
K. Sartor, Heidelberg
Springer
Berlin
Heidelberg
New York
Hong Kong
London
Milan
Paris
Tokyo
s. J. King· A. E. Boothroyd (Eds.)

Pediatric
ENT
Radiology
With Contributions by

D. Armstrong· S. Blaser· A. E. Boothroyd· K. Bradshaw· W. C. W. Chu . R. Clarke

A. W. Duncan· B. Fredericks· A. Fryer· C. Garel . D. Gilday· D. Grier· S. J. King
S. Kottamasu . K. McHugh· A. McLennan· S. McMahon· C. Metreweli . P. D. Phelps
C. Robson· A. Sprigg· D. Stringer· N. Wright

Foreword by

A.L.Baert

With 347 Figures in 526 Separate Illustrations, 3 in Color

, Springer
SUSAN J. KING, MD
Consultant Paediatric Radiologist
Bristol Royal Hospital for Sick Children
Paul O'Gorman Building, Upper Maudlin Street
Bristol BS2 8BJ
UK

ANNE E. BOOTHROYD, MD
Consultant Paediatric Radiologist
Alder Hey Children's Hospital
Eaton Road
Liverpool L12 2AP
UK

MEDICAL RADIOLOGY' Diagnostic Imaging and Radiation Oncology

Series Editors: A. L. Baert . L. W. Brady· H.-P. Heilmann· F. Molls· K. Sartor
Continuation of
Handbuch der medizinischen Radiologie
Encyclopedia of Medical Radiology

ISBN 978-3-540-00002-0 Springer-Verlag Berlin Heidelberg New York

Library of Congress Cataloging-in-Publication Data

Pediatric ENT radiology 1 S. J. King, A. E. Boothroyd, eds. ; with contributions by s.

Blaser ... [et al.] ; foreword by A. L. Baert.
p. ; cm. - (Medical radiology)
Includes bibliographical references and index.
ISBN-13: 978-3-540-00002-0 e-ISBN-J3: 978-3-642-59367-3
DOl: 10.1007/978-3-642-59367-3
I. Pediatric radiology. 2. Pediatric otolaryngology. 3. Pediatric diagnostic imaging. 4.
Children-Diseases-Diagnosis. I. King, S. J. (Susan J.), 1959- II. Boothroyd,A. E.
(Anne E.), 1959- III. Series.
[DNLM: I. Otorhinolaryngologic Diseases-radiography-Child. WV 140 P3708 2002]
RJ5l.R3 P395 2002
618.92'097510757-dc21 2001020998
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Foreword

Head and neck diseases in infants and children pose very difficult but extremely interest-
ing diagnostic and differential diagnostic problems for all physicians responsible for
the correct management of these young patients.
The development and clinical introduction, during the past two decades, of new high-
performance diagnostic imaging modalities such as sonography, computed tomogra-
phy and MRI has allowed striking progress in the visualization and interpretation of
the findings in many pathological conditions (congenital, developmental, infectious and
tumoral) involving the ENT area in infants and children.
This book intends to provide the latest update in our imaging knowledge of the head
and neck region in infants and children and is a very welcome addition to our book
series "Medical Radiology", which aims to cover all new developments in the field of
diagnostic imaging. It will be of particular interest to pediatricians, pediatric radiolo-
gists and ENT surgeons and will hopefully assist them in their daily clinical practice.
I am very grateful to Dr. S. King and Dr. A.E. Boothroyd, both well-known pediatric
radiologists, for accepting editorial responsibility for this volume. I would like to con-
gratulate them and all the contributing authors on their comprehensive approach, the
exhaustive content of the volume and the superb presentation and illustrations. This
book can be considered the standard reference on the topic for the coming years.
I am also indebted to Professor Helen Carty, world leader in pediatric radiology, for
her inspiration in the conception of this work.
As always I would appreciate any positive critiques that readers may wish to express.

Leuven ALBERT 1. BAERT

Preface

Children with disease of the ear, nose or throat may come under the care of a wide range
of health care professionals. These include paediatricians, ear, nose and throat surgeons,
accident and emergency personnel, geneticists and audiology staff. The clinical problem
may be straightforward, such as an inhaled foreign body, or part of a complex condi-
tion such as Treacher Collins syndrome. Radiology often has an important role in
the management of these children, and staff other than trained paediatric radiologists
may interpret imaging investigations. Increasing sub-specialisation in radiology and
geographical variations in delivery of health care may limit the experience of individual
radiologists.
The chapters in the book are written by a range of experienced clinical practitioners
in the field of paediatric ear, nose and throat disease. They cover the role and significance
of the radiology of this area in the young and the emphasis is very much on clinical
aspects of disease, reflecting the multidisciplinary approach to the care of these chil-
dren.
We would like to thank the authors and their secretaries, colleagues and families who
have contributed to the production of this book. We hope that it goes some way towards
filling the gap that we found when trying to evaluate paediatric ear, nose and throat con-
ditions in clinical practice.

Bristol SUSAN J. KING

Liverpool ANNE E. BOOTHROYD
Contents

Introduction
RAYMOND W. CLARKE .

Part 1 Ear................................................................ 7

2 Congenital Deafness
PETER D. PHELPS 9

3 Imaging-related to Cochlear Implants

KAREN BRADSHAW....................................................... 21

4 Syndromes Associated with Hereditary Deafness

ALAN FRYER 35

5 Otitis Media (Acute and Chronic)

DAVID GRIER 55

6 Cholesteatoma
NEVILLE WRIGHT. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 69

7 Tumours of the Temporal Bone

SUSAN J. KING . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 79

8 Temporal Bone Trauma

SUSAN J. KING. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 91

Part 2 Nose.............................................................. 97

9 Congenital Malformations of the Face

S. BLASER and D. ARMSTRONG. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 99

10 Facial Injury
B. J. FREDERICKS. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 119

11 Sinusitis Including Imaging for Functional Endoscopic Sinus Surgery

A. McLENNAN . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 133

12 Nasopharyngeal Tumours
KIERAN McHUGH 153
x Contents

Part 3 Throat 173

13 Congenital Neck Masses (Non-Vascular)

A.W. DUNCAN........................................................... 175

14 Obstructive Sleep Apnoea

RAYMOND W. CLARKE . . . . . . . . . . . . . . . . . . . . . . . . .. 199

15 Stridor
RAYMOND W. CLARKE 207

16 Airway Obstruction
ANNE E. BOOTHROyD.................................................... 213

17 Foreign Bodies and Trauma

ALAN SPRIGG 229

18 Inflammatory Lesions of the Neck and Airways

W. C. W. CHU and C. METREWELI 245

19 Tumours of the Neck and Airways

ANNE E. BOOTHROYD 257

20 Vascular Lesions of the Head and Neck in Children

CAROLINE D. ROBSON 267

21 Role of Videofluoroscopy
SIOBHAN McMAHON . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 289

22 The Oesophagus
SAM R. KOTTAMASU and DAVID A. STRINGER 297

23 Nuclear Medicine of the Thyroid and Parathyroid Glands

DAVID GILDAY 327

24 Salivary Glands
SUSAN J. KING. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 335

25 Ultrasonography of the Larynx

CATHERINE GAREL 345

Subject Index 351

List of Contributors. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 361

1 Introduction
R.W.CLARKE

CONTENTS eth century these interests amalgamated and the care

of disorders of the ears, nose and throat became a
1.1 Historical Introduction discrete surgical discipline (WEIR 1990).
1.1.1 ENT Radiology 1 John MACINTYRE is credited with the first X-ray
1.1.2 Sub-specialisation in Paediatric ENT
and Radiology 1 related to otolaryngology - a radiograph of a cadav-
1.1.3 Scope of Paediatric ENT Radiology 2 eric larynx in 1896 (MACINTYRE 1896a, b). Lord
1.2 Imaging the Ear in Childhood 2 LISTER alluded to this in his presidential address
1.2.1 The Deaf Child 2 to the British Medical Association in Liverpool later
1.2.2 Tympanomastoid Disease 2 that year (LISTER 1896). The first X-rays of a foreign
1.2.3 Neuroimaging 2
1.3 Rhinology 3 body in the oesophagus were also published in 1896
1.3.1 Rhinosinusitis 3 (Fig. 1.1) (JOHNSTON and THURSTAN HOLLAND 1896),
1.3.2 Non-inflammatory Nasal Disease 3 and the clinical potential of the new discovery in ear,
1.4 Neck Disease 4 nose and throat disorders was immediately apparent.
1.4.1 Neck Masses 4 MACINTYRE was both a laryngologist and a radiolo-
1.4.2 Infections 4
1.4.3 The Modified Barium Swallow 4 gist and established the first medical X-ray depart-
1.5 The Paediatric Airway 4 ment at The Glasgow Royal Infirmary (CHAVDA and
1.5.1 Conventional Techniques 4 PAHOR 1996).
1.5.2 "Virtual" Endoscopy 4
1.6 Interventional Techniques 4
1.6.1 Sclerotherapy for Cystic Hygroma 4
1.6.2 Balloon Dilatation of Airway Lesions 5
1.7 The Way Ahead 5
References 5

1.1
Historical Introduction

1.1.1
ENT Radiology

Radiology was established during the revolution in

scientific thinking towards the end of the nineteenth
century (ANON 1896). This period also saw the birth
of otorhinolaryngology. Physicians began to spe-
cialise in diseases of the throat (laryngology) and
diseases of the ear (otology), but in the early twenti-

R.W. CLARKE BSc, DCH, FRCS, FRCS (ORL)

Consultant Paediatric Otolaryngologist, Royal Liverpool Chil- Fig. 1.1. Halfpenny in the oesophagus - the first X-ray of an
dren's Hospital, Liverpool, UK oesophageal foreign body (1896)
2 R. W. Clarke
1.1.2
Sub-specialisation in Paediatric ENT
and Radiology
In the latter half of the twentieth century enormous
strides were made in the medical and surgical care
of sick children such that paediatrics was widely
accepted as a specialty in its own right. Develop-
ments in paediatric anaesthesiology and intensive
care as well as advances in antimicrobial manage-
ment of sepsis ushered in an era of new possibilities
in the management of paediatric airway disease,
the treatment of suppurative middle ear and sinus
disease and head and neck disorders in children.
It became clear that, although the care of children
accounted for about one-third of general ENT prac-
tice, there was a need for paediatric otolaryngol-
ogy to develop as a separate discipline (BLUE-
STONE 1995). Similar specialisation evolved in
radiology, and dedicated paediatric radiologists
were appointed to the staff of children's hospitals,
giving opportunities for co-operation between the
two specialties to enhance the management of chil-
dren with ENT disorders.
1.1.3
Scope of Paediatric ENT Radiology
Advances in imaging are such that no clinician can
now be completely conversant with them all. Rather
than requesting a particular technique, it is more
common for the paediatric otolaryngologist to dis-
cuss a clinical scenario with a paediatric radiologist
so that collectively they can decide on the most
appropriate imaging. This may include one or more
modalities from a spectrum that ranges from plain
radiography through computed tomography (CT),
magnetic resonance imaging (MRI) and contrast
studies of the aero-digestive tract, to dynamic imag-
ing of the airway during the respiratory cycle (STRIFE
and EMERY 1995). It may also include a variety of
ultrasound or interventional techniques.
1.2
Imaging the Ear in Childhood
1.2.1
The Deaf Child
With a combination of careful imaging, genetic stud-
ies and audiological investigations it is now possible
to make a definitive diagnosis in the majority of chil-
dren with congenital deafness. This is in stark con-
trast to the situation some 10 years ago, when most
cases were described as "idiopathic". Otolaryngolo-
gists and paediatric audiological physicians now have
protocols which often involve routine imaging - CT
or MRI scanning. Conditions which can be dem-
onstrated in this way include Mondini's dysplasia,
Michel's deformity and, more recently, the dilated
vestibular aqueduct. The finding of a dilated vestibu-
lar aqueduct is an important marker for Pendred's
syndrome (REARDON et al. 2000).
Careful preoperative imaging is now essential for
children being considered for cochlear implantation
(Chap. 3).
1.2.2
Tympanomastoid Disease
The greater resolution and reduced exposure to ionis-
ing radiation brought about by the new generation
of CT scanners, including helical CT scanning, have
permitted the creation of extremely high-resolution
images of the delicate structures of the tympanum
and the mastoid air cell system. Such images can be
valuable in planning operative intervention and in
looking for recurrent disease following limited mas-
toid surgery. However, we await developments which
will enable us to tell with certainty which shadows
in the tympanomastoid region have the potential
to erode and which are simply mucosal disease
(Chap. 6).
1.2.3
Neuroimaging
Imaging of the complications of suppurative middle
ear disease and paranasal sinus disease is of enor-
mous importance in planning neurosurgical inter-
vention. This applies to the development of men-
ingitis and extradural, subdural and intracerebral
abscesses. The timing of intervention may be highly
dependent upon the radiological image, and these sit-
uations often call for emergency CT (Fig. 1.2). There
is also a range of uncommon conditions in the
skull base that occur in adolescence, the manage-
ment of which has been greatly aided by modern
imaging techniques. These include paragangliomata,
schwannomata, meningiomata, cysts of the petrous
apex and rhabdomyosarcomata (JACKSON et al.
1996).
Introduction 3

Fig. 1.2. Contrast-enhanced CT of the brain demonstrates a Fig. 1.3. Gadolinium-enhanced MRI demonstrates a right-
right-sided frontal abscess secondary to sinusitis sided angiofibroma. Note the destruction of the medial ptery-
goid plate

1.3 The management of children with choanal atresia

Rhinology has also been greatly aided by modern imaging.
Scans will help to determine whether the atresia is
1.3.1 membranous or bony and to show the extent of bony
Rhinosinusitis swelling in the nasal septum (Fig. 1.4). This can be
important for planning surgical treatment (SLOVIS et
Endoscopic sinus surgery is widely practised in al. 1985; FRIEDMAN et al. 2000).
adults. Its widespread use in children is controver-
sial (GUNGOR and COREY 1997), but where surgical
intervention is planned, high-quality imaging is an
invaluable guide, firstly as to the extent of the disease
and secondly to show important anatomical struc-
tures so that the risk of complications can be mini-
mised.

1.3.2
Non-inflammatory Nasal Disease

The management of nasopharyngeal angiofibromata

has been revolutionised by the advent of high-resolu-
tion MR scanning (Fig. 1.3). Previously angiography
was needed to delineate these tumours, but this is no
longer the case, which has greatly reduced morbidity Fig. 1.4. CT on bone settings demonstrates a bilateral bony
(JONES and KOCH 1999). choanal atresia
4 R. W. Clarke
1.4
Neck Disease
1.4.1
Neck Masses
CT or MRI can now delineate the swelling in cystic
hygromata. Few ENT surgeons would embark on major
surgery of the salivary glands without preoperative
imaging. The same applies to excision of thyroglossal
cysts and cervical glands,where ultrasound can be espe-
cially informative, Neck mass biopsies are now rarely
considered without careful preoperative imaging.
1.4.2
Infections
Retropharyngeal abscess (LALAKEA and MESSNER
1999), parapharyngeal abscess and suppurative
parotid disease can be demonstrated with imaging,
thus permitting more timely and better targeted sur-
gery (Fig. 1.5).
1.4.3
The Modified Barium Swallow
The conventional barium swallow is still a useful
diagnostic method for delineating tracheo-oesoph-
Fig. 1.5. CT demonstrates the low attentuation of a right-sided
retropharyngeal abscess
ageal fistulae and extrinsic compression of the
oesophagus, e.g., dysphagia lusoria. Videofluoro-
scopic swallowing examination is a useful dynamic
and functional technique which is greatly under-used
in children with airway pathology. Silent aspiration
may be demonstrated, and the method is useful to
determine whether structural corrective surgery is
likely to improve airway protection or swallowing
(WElT et al. 2000).
1.5
The Paediatric Airway
Imaging can aid in the management of the stridulous
child.
1.5.1
Conventional Techniques
These include plain X-rays, the modified barium
swallow (MBS), and CT and MRI. Increasingly, ultra-
sound is used to image the larynx non-invasively (see
Chap. 25).
1.5.2
"Virtual" Endoscopy
Computerised reconstruction has meant that the
accuracy of paediatric airway imaging is fast
approaching the diagnostic acumen of endoscopy.
Non-invasive imaging may supplant endoscopy as
the procedure of choice for evaluation of the infant
or child with airway abnormalities (KONEN et al.
1998).
1.6
Interventional Techniques
1.6.1
Sclerotherapy for Cystic Hygroma
Cystic hygroma is notoriously difficult to treat surgi-
cally because of the extensive nature of the lesion.
Percutaneous sclerotherapy under imaging control
is increasingly used, with promising early results
(GREINWALD et al. 1999).
Introduction
1.6.2
Balloon Dilatation of Airway Lesions
Tracheobronchial stenosis is associated with high
morbidity and mortality. Although surgery is the
primary treatment, interventional radiological tech-
niques and the placement of stents under imaging
control now offer potential alternatives (FERRETTI et
al. 1995).
Tracheobronchial balloon dilatation is performed
with either deep sedation or general anaesthesia.
Bronchography using non-ionic water-soluble con-
trast material is performed when details of the ste-
noses are not well depicted with conventional flu-
oroscopy. With a guidewire in place, the balloon is
positioned and inflated under continuous fluoro-
scopic control. Serial dilatations may take place until
the stenoses are adequately dealt with.
Expandible metallic tracheobronchial stents may
be placed following helical chest CT imaging. This
may be indicated in congenital tracheomalacia or,
indeed, bronchomalacia (FURMAN et al.1999).
1.7
The Way Ahead
We have seen such advances in imaging in paediatric
ENT that it often seems that no further improve-
ment is possible. It is likely that computer recon-
struction techniques will provide better and better
resolution and ultimately bring about three-dimen-
sional reconstruction that will provide images in
many cases better than can be obtained by endoscopy
(FERRETTI and COULOMB 2000).
New techniques in functional imaging may develop
a contrast material whose signal is changed by local
enzymatic activity, raising the intriguing possibility
of imaging almost at the molecular level (PaTCHEN
2000). Close liaison between otolaryngologists and
radiologists will surely be of even more importance
in the decade to come.
5
References
Anon (1896) The new photographic discovery. Lancet 1:179
Bluestone CD (1995) Paediatric otolaryngology: past, present,
future. Arch Otolaryngol Head Neck Surg 121:505-508
Chavda SV, Pahor MA (1996) Historical article: a century of
ENT radiology. J Laryngol Otol110:5-9
Ferretti G, Jouvan FB, Thoney F, et al (1995) Benign non-
inflammatory bronchial stenosis: treatment with balloon
dilatation. Radiology 196:831-834
Ferretti G, Coulomb M (2000) 3D virtual imaging of the upper
airways. Rev Pneumol Clin 56:132-139
Friedman NR, Mitchell RB, Bailey CM et al (2000) Manage-
ment and outcome of choanal atresia correction. J Paediatr
OtorhinolaryngoI52:45-51
Furman RH, Backer CL, Dunham ME, et al (1999) The use
of balloon-expandable metallic stents in the treatment of
pediatric tracheomalacia and broncomalacia. Arch Otolar-
yngol Head Neck Surg 125:203
Greinwald JH, Burke DK, Sato Y et al (1999) Treatment
of lymphangiomas in children: an update of Picabanil
(OK-432) sclerotherapy. Otolaryngol Head Neck Surg
121:381-387
Gungor A, Corey JP (1997) Pediatric sinusitis: a literature
review with emphasis on the role of allergy. Otolaryngol
Head Neck Surg 116:4-15
Jackson CG, Pappas DG. Jr, Manolidis S et al (1996) Pae-
diatric otolaryngologic skull base surgery. Laryngoscope
106:1205-1209
Johnston F, Thurstan Holland C (1896) Two cases of a half-
penny in the oesophagus. Br Med J 11:1677
Jones BV, Koch BL (1999) Magnetic resonance imaging of
the paediatric head and neck. Top Magn Reson Imaging
10:348-361
Konen E, Katz M, Rozenman J, et al (1998) Virtual bronchos-
copy in children: early clinical experience. AJR Am J Roent-
genol 171:1699-1702
Lalakea ML, Messner AH (1999) Retropharyngeal abscess
management in children: current practices. Otolaryngol
Head Neck Surg 121:398-405
Lister J (1896) The relations of clinical medicine to modern
scientific development. Br Med J 11:733-741
Macintyre J (1896a) Rontgen rays in laryngeal surgery. Br Med
J 1:1094
Macintyre J (1896b) Rontgen rays in laryngeal surgery. J Lar-
yngol Rhinol OtoI1O:231-232
Potchen EJ (2000) Prospects for progress in diagnostic imag-
ing. J Int Med 247:411-424
Reardon WO, Mahoney CF, Trembath R et al (2000) Enlarged
vestibular aqueduct:a radiological marker of Pendred syn-
drome, and mutation of the PDS gene. QJM 93:99-104
Siovis TL, Renfo B, Watts FB et al (1985) Choanal atresia: pre-
cise CT evaluation. Radiology 155:345-348
Strife J, Emery K (1995) Imaging of airway obstruction in
infants and children. In: Myer C, Cotton R, Shott S (eds)
The pediatric airway: an interdisciplinary approach. Lip-
pincott, Philadelphia, pp 45
Weir N (1990) Otolaryngology: an illustrated history. Butter-
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airway radiology. Otolaryngol Clin North Am 33:15-28
Part 1 Ear
2 Congenital Deafness
P. D. PHELPS

CONTENTS Collins may alert the paediatrician to the likelihood

of deafness, but more often this is identified only as a
2.1 Introduction 9 result of a hearing screening programme.
2.2 Type of Imaging Investigation 9 The management of cases of congenital hearing
2.2.1 Plain Films 9
2.2.2 Computed Tomography 10 abnormality lies in the fields of audiology and spe-
2.2.3 Magnetic Resonance Imaging 10 cial education but may be influenced by the results
2.2.4 Angiography 10 of imaging. Two different questions need to be
2.3 Inner Ear Deformities 11 addressed; firstly, the age at which the imaging inves-
2.3.1 Deformities of the Cochlea 12 tigation should be undertaken and, secondly, the type
2.3.2 Vestibule and Semicircular Canals 12
2.3.3 Internal Auditory Meatus 12
of imaging to be used in the first instance, since it is
2.3.4 Vestibular Aqueduct and Endolymphatic Sac 12 virtually impossible to distinguish between congen-
2.4 Inner Ear Lesions Associated with ital and rapid-onset deafness in the neonate. Some
Cerebrospinal Fluid Fistula 13 congenital aberrations such as large vestibular aque-
2.5 Middle Ear Deformities 15 duct and some bone dysplasias are associated with
2.6 Facial Nerve 15
2.7 Ossicles 16 progressive hearing loss. The most important assess-
2.8 External Auditory Meatus 16 ment of the deaf child is a continuous evaluation
2.9 Bone Dysplasias 16 between the ages of 1 and 3 years, when normal
2.10 Branchial Cysts, Sinuses and Fistulae 18 speech develops. Failure to develop normal speech is
References 19 often the first indication of hearing deficiency. Unfor-
tunately, when deafness is first confirmed at this
age sedation or a general anaesthetic is required for
the investigation. If after careful consideration it is
2.1 felt that the results of the imaging investigation are
Introduction unlikely to affect patient management, it may be rea-
sonable to defer the examination until the child can
Many congenital abnormalities of hearing do not cooperate. In the neonatal period, a few CT sections
involve structural abnormalities of bone or soft tissue can usually be obtained after a large feed, and this is
and therefore cannot be shown by imaging. Neverthe- recommended for those infants with relevant exter-
less, CT can demonstrate bone deformities in great nal deformities or syndromes of which temporal
detail, and, more recently, MRI has proved capable of bone abnormalities are a feature. Plain films will also
defining soft tissue abnormalities and deficiencies ofthe give some information at this stage when full ossifi-
labyrinth of the inner ear and its central connections. cation of the petrous pyramids has not occurred.
A family history of deafness, a history of maternal
rubella during pregnancy, neonatal jaundice or identi-
fication in the neonatal period of abnormalities asso-
ciated with deafness such as external ear deformities 2.2
or various syndromes such as Pendred or Treacher Type of Imaging Investigation

P.D. PHELPS, MD, FRCS, FRCR
Consultant Radiologist, Department of CT/MRI, Walsgrave
Hospitals NHS Trust, Clifford Bridge Road, Coventry, CV2
2DX, UK
2.2.1
Plain Films
Plain films are of little value because of the overlap-
ping of bony structures, but may occasionally be useful
10
to exclude gross abnormalities (Fig. 2.1), to show the
extent of pneumatisation or to assess the position of
the electrode array of a cochlear implant.
2.2.2
Computed Tomography
Short scan times, good bone detail and superior dem-
onstration of soft tissue abnormalities have made CT
the investigation of choice in most cases of congen-
ital deafness. A sound knowledge of the cross-sec-
tional anatomy of the petrous temporal bone is essen-
tial. Four or five 2-mm sections may be sufficient for
screening examinations, but thinner, I-mm slices are
required to study areas such as the oval window or the
incudostapedial and malleolo-incudal joint (Fig. 2.2).
Care should be taken to limit the radiation dose to
the eyes by careful positioning. Sections low enough to
demonstrate the jugular fossa should only be included
if indicated and specifically requested. Further sec-
tions in the coronal plane can be obtained by refor-
matting. Assessment of the middle ear cavity is made
best by CT, which will show whether or not the cavity
contains air. Unfortunately, it is not possible to tell
by "tissue characterisation" whether soft tissue den-
sity in the tympanum is due to fluid, mesenchymatous
"glue", soft tissue or cholesteatoma, but only by expe-
rience and indirect signs such as bone erosion.
2.2.3
Magnetic Resonance Imaging
Although not as satisfactory as CT for demonstrat-
ing the middle and external ear, MRI is the imaging
investigation of choice for the inner ear, cranial
nerves and cerebral structures.
Fig. 2.1. A perorbital plain film view in a neonate shows the
normal labyrinth and internal auditory meatus on one side
and on the other a primitive otocyst with endolymphatic
appendage (arrow) confirming complete anacusis in this ear
P. D. Phelps
Fig. 2.2. Axial CT scan of petrous temporal bones showing a
fused ossicular mass on the right (arrow). Compare with the
separate malleus and incus on the normal side
T2-weighted thin-section images using either a
spin-echo or gradient-echo protocol give good con-
trast between the high signal of cerebrospinal fluid
and labyrinthine fluids, intermediate signal of soft
tissue structures and low signal from bone (Fig. 2.3).
If sensorineural deafness seems to be indicated by
the audiological assessment, then MRI should be the
initial imaging investigation, but unfortunately such
audiological differentiation is only possible in fairly
advanced childhood. Therefore, in most cases of con-
genital deafness the initial investigation will be by
CT, which is quicker and easier, although in small
children general anaesthesia is often required to get
an optimum examination.
2.2.4
Angiography
Magnetic resonance angiography (MRA) is a new
technique that is rapidly replacing conventional angi-
ography. It employs flowing blood as a physiological
contrast medium, is non-invasive and can be added to
a routine MRI study. Venous MRA can demonstrate
the intracranial venous sinuses and has replaced cath-
eter venography. A child of 4 years presented with
right-sided sensorineural deafness as the only abnor-
mality. A large right jugular fossa was shown by CT,
but the fossa was smoothly outlined and seemed to be
a normal variant. However, the progressive nature of
the deafness was worrying and MRI was undertaken
 Congenital Deafness 11

a a

b
Fig. 2.3. a T2-weighted axial MR scan showing normal cranial
nerves and vascular loop in the right internal auditory meatus
but no internal auditory meatus or nerves on the other side.
The child has left anacusis and a facial palsy. b Coronal CT. The
arrows indicate normal internal auditory meatus and descend-
ing facial canal on the right. These are absent on the left

to rule out an expansile lesion in this location. MRA

confirmed the large jugular bulb and sigmoid sinus
(Fig. 2.4) but whether this anomaly can be progressive
as seemed the case here is uncertain.
b
Fig.2.4a,b. Child with a large jugular fossa (j). a Coronal CT
at the level of the round window. The arrow indicates the
descending facial canal in close proximity. b MRA. Note how
little blood returns from the other side

2.3
Inner Ear Deformities
Complete absence of the labyrinth of the inner ear,
the so-called Michel deformity (MICHEL 1863), is in
fact extremely rare; much commoner is the primitive
otocyst (see Fig. 2.1). However, neither deformity is
of much interest as there is complete anacusis but no
risk of a cerebrospinal fluid fistula. Arrest at a slightly
later stage of development, however, gives rise to the
"common cavity" lesion first described by Edward
COCK in 1838 and this carries a very real risk of sponta-
neous cerebrospinal fluid fistula and/or meningitis.
12
2.3.1
Deformities of the Cochlea
The cochlea may be completely absent (Fig. 2.5),
may be smaller than normal with only two turns, as
in the branchio-oto-renal syndrome, or have a defi-
cient interscalar septum. This was the first congenital
abnormality of the ear to be described, by MONDINI in
1791, based on his dissection of the temporal bones
of a boy born deaf. Mondini's precise description is
of a normal basal cochlear coil and a distal sac. The
first histological section of a Mondini cochlea was
made by ALEXANDER in 1904 (Fig. 2.6). Because of
the normal basal turn, some hearing is possible in
the true Mondini deformity.
2.3.2
Vestibule and Semicircular Canals
The semicircular canals may be absent or dilated
in varying degree, but the commonest labyrinthine
anomaly and second commonest congenital deformity
of the inner ear, namely a solitary dilated dysplastic lat-
eral semicircular canal, is often associated with normal
cochlear function. Complete absence of the semicir-
cular canals is a feature of the CHARGE association,
Fig. 2.5. A relatively normal vestibular labyrinth can be seen
on the left on these coronal CT sections, but there is no cochlea
and the internal auditory meatus is very narrow (arrows)
P. D. Phelps
Fig. 2.6. ALEXANDER'S histological section of a Mondini
cochlea: basal coil and distal sac (ALEXANDER 1904)
and in most of these cases there is complete anacusis,
although some success has been achieved by cochlear
implantation (BAMIOU et al. 2000).
2.3.3
Internal Auditory Meatus
Anomalies of the internal auditory meatus include
the bulbous type, which is usually of no significance
unless there is deficient bone between the fundus of
the internal auditory meatus and the basal cochlear
coil, such as occurs in one type of X-linked deafness
(Fig.2.7); unusual direction, which is the result of
skull base aberrations; and very narrow or "double"
internal auditory meatus, which usually indicates
severe or total deafness.
2.3.4
Vestibular Aqueduct and Endolymphatic Sac
Enlargement of the vestibular aqueduct, first identi-
fied by lateral polytomography, is now easily dem-
onstrated by routine axial CT. The usual association
with progressive and fluctuant hearing loss gave rise
to the term "vestibular aqueduct syndrome". How-
ever, the axial plane is not the ideal one for demon-
strating the vestibular aqueduct, and it would seem
more pertinent to demonstrate the soft tissue con-
tents of the large vestibular aqueduct. Thus, MRI,
which can easily be done in the sagittal as well as
the axial plane, would seem the imaging investi-
Congenital Deafness
NORMAL MONDINI
ABSENT SEMICIRCULAR x. LINKED DEAFNESS
CANALS (C.H.A.R.G.E.)
CfJ
OTOCYST COMMON CAVITY
(COCK)
Fig.2.7. Diagrams of some congenital malformations of the
labyrinth based on axial CT sections
gation of choice. A large endolymphatic sac is an
almost pathognomonic feature of Pendred's syn-
drome (Fig. 2.8) (PHELPS et al. 1998), a combination
of congenital deafness and thyroid dysfunction.
2.4
Inner Ear Lesions Associated with
Cerebrospinal Fluid Fistula
Congenital cerebrospinal fluid fistula into the middle
ear cavity is a rare but potentially fatal condition
which is frequently misdiagnosed. Its clinical features
are as follows:
1. Cerebrospinal fluid rhinorrhoea if the eardrum is
intact. Cerebrospinal fluid passes down the eusta-
chian tube causing a nasal discharge.
2. Cerebrospinal fluid otorrhoea if there is a perfora-
tion in the eardrum, or if myringotomy has been
performed for presumed serous otitis media.
13
3. Attacks of meningitis, which are usually recurrent.
In some cases meningitis is the sole presenting
manifestation of a cerebrospinal fluid fistula.
Deafness is usually severe or complete, but it is dif-
ficult to diagnose and assess, especially in a young
child. It is frequently unrecognised if unilateral. The
conductive and sensorineural components of the
deafness are also hard to define.
Spontaneous cerebrospinal fluid fistulae from the
subarachnoid space into the middle ear cavity may
be classified as perilabyrinthine or translabyrinthine.
In the very rare perilabyrinthine group, through
bony defects close to but not involving the labyrinth
(Fig. 2.9b), hearing is usually normal initially. The
commoner translabyrinthine (Fig.2.9a) group is
nearly always associated with anacusis, severe laby-
rinthine dysplasia and a route via the internal audi-
tory meatus. The labyrinthine deformity is more
severe than the type classically described by MONDlNI,
and evidence of a dilated cochlear aqueduct in these
cases is also unconvincing.
The perilabyrinthine and translabyrinthine routes
are discussed in a paper by PHELPS (l986). The most
important route is via an abnormally shaped internal
auditory meatus that usually tapers at its lateral end.
The cochlea is an amorphous sac which lacks a modi-
olus or central bony spiral. The cochlear sac may
be bigger or smaller than a normal cochlea. No
proper basal turn can be recognised as in a true Mon-
dini deformity, and there is a wide communication
between the cochlear sac and the vestibule, which is
itself abnormal and enlarged, especially in the hori-
zontal plane. The semicircular canals may be dilated
to varying degrees, especially the lateral.
The labyrinthine malformation is often accompa-
nied by a defective stapes, usually a hole in the foot-
plate, and the exit route of cerebrospinal fluid into the
middle ear is via the oval or, less commonly, the round
window. It should be stressed that the fistula is usually
spontaneous or the result of a minor head injury.
Congenital fixation of the stapes footplate is likely
to be associated with a profuse perilymph or cerebro-
spinal fluid leak following stapedectomy. The surgi-
cal results of stapedectomy for congenital stapedial
fixation are not very satisfactory, but there is little
radiological evidence of structural abnormalities of
the labyrinth in these "gushers".
The management of cerebrospinal fluid fistulae
into the middle ear depends on a high degree of clini-
cal suspicion. Perilabyrinthine fistulae are extremely
rare and usually associated with normal hearing
(Fig. 2.9b). Bony defects around the labyrinth may be
 14 P. D. Phelps

b
Fig.2.8a,b. T2-weighted MRI of a case of Pendred's syndrome showing the characteristic Mondini cochlea and enlarged endo-
lymphatic sac. a Axial view (note the low signal from the sac on one side, characteristic of Pendred's syndrome), b sagittal view

Fig. 2.9. a The commonest inner ear anomaly associated with cerebrospinal fluid fistula. Note the wide communication between
the vestibule and cochlear sac. The diagram is based on coronal section CT. b The various routes of perilabyrinthine fistulae
around the labyrinth of normal configuration: (1) through the tegmen tympani, (2) through large apical air cells, (3) via Hyrtl's
fissure, (4) via petromastoid canal (not a proven route), (5) via the facial nerve canal. EAM = external auditory meatus: ET
= eustachian tube: CA = cochlear aqueduct; J = jugular fossa. The diagram is based on coronal section CT. (Reproduced by
permission from PHELPS 1986)
Congenital Deafness
shown by sophisticated bone imaging, but tracer cere-
brospinal fluid contrast studies may be necessary to
confirm the aural route. The commoner translabyrin-
thine type is almost always associated with labyrin-
thine dysplasia. Sensorineural deafness or two unex-
plained attacks of meningitis make CT study of the
temporal bones mandatory. When a basal turn of
normal calibre is associated with a distal sac, i.e. a true
Mondini deformity, then some hearing is possible and
there is no risk of meningitis or a fistula (see Fig. 2.7).
2.5
Middle Ear Deformities
In the majority of unilateral atresias with associ-
ated deformity of the pinna but no other congenital
abnormality, there is a normally formed mastoid with
good pneumatisation and the middle ear cavity is
of relatively normal shape. Even in the most severe
deformities there is rarely complete absence of the
middle ear, and usually at least a slit-like hypotym-
panum can be shown lateral to the basal turn of the
cochlea. The middle ear cavity may be reduced in
size by encroachment of the atretic plate laterally, by
a high jugular bulb inferiorly or by descent of the
tegmen superiorly. In craniofacial microsomia and
mandibulofacial dysostosis, the attic and antrum are
typically absent or slit-like, being replaced in varying
degrees by solid bone or by descent of the tegmen.
If the middle ear cavity is air-containing, its shape
and contents are relatively easy to assess. Frequently,
however, the middle ear in congenital abnormalities
contains undifferentiated mesenchyme, a thick glue-
like substance which is radiologically indistinguish-
able from soft tissue or retained mucus. Thin bony
septa may divide the middle ear cavity into two or
more compartments.
2.6
Facial Nerve
The facial nerve is very rarely absent, although it may
be hypoplastic. The main problem is aberration in
the course of the nerve. In early embryonic life, the
developing seventh cranial nerve lies anterior to the
otocyst, so if development is arrested at this stage,
a tract for the facial nerve is found anterior to a
primitive otic sac. If development is arrested at a later
stage, after the cochlea has formed to some extent,
15
then the first part of the facial nerve is found in
its usual situation above and lateral to the cochlea.
The facial nerve is, therefore, relatively unaffected by
developmental abnormalities of the labyrinth, and
aberrations of the first part of the facial nerve canal
are most unusual.
The course of the second and third parts is, how-
ever, dependent on normal development of the bran-
chial arches, the facial nerve being the nerve of the
second arch. During its development and migration,
the facial nerve curves behind the branchial cartilage
to reach the anterior aspect of the same cartilage. At
the same time, part of the cartilage adheres to the otic
capsule to form the fallopian canal. If, during devel-
opment, the external pharyngeal groove of the first
branchial arch is active and atresia is due only to mal-
development of the tympanic ring, then the second
and third parts of the facial canal follow a relatively
normal course.
The greater the deformity is, the more marked is
the tendency for the facial nerve to follow a more
direct route out into the soft tissues of the face.
Exposed facial nerves in the middle ear cavity are the
most common abnormalities recorded at surgery for
congenital malformations. Usually the fallopian canal
is dehiscent, but the descending segment may also
be exposed, and overhang of the facial ridge with
absence of the second genu is a usual finding in the
Treacher Collins syndrome, making access to the oval
window difficult for the surgeon. A short vertical seg-
ment of the facial canal and high stylomastoid fora-
men mean that the nerve turns forwards into the
cheek in a high position (Fig. 2.10) (PHELPS 1994).
In the preoperative radiological assessment, the
descending facial canal and its relationship to other
structures must be demonstrated, preferably in both
lateral and coronal sections. Axial CT sections will
show the descending canal in cross-section and identi-
fication is less certain. Grossly displaced nerves cross-
ing the middle ear cavity are more difficult to identify.
Fig. 2.10. Coronal CT section at the level of the cochlea. A very
anteriorly placed short descending facial nerve canal (arrow)
16
2.7
Ossicles
A normal ossicular chain is rarely found where there
is atresia of the external ear, but complete absence
of the ossicles is also unusual. In most cases at least
some vestige of the ossicular chain is evident. The
ossicles may be thicker and heavier than normal or,
less frequently, thin and spidery. They may be fixed to
the walls of the middle ear cavity by bosses of bone,
but the more usual deformity discovered at surgery is
a fusion of the bodies of malleus and incus. The anky-
losis varies in degree and may be bony or fibrous.
The radiological recognition of this ossicular union
is difficult but is, in any case, not of great practical
importance, and an irregular lump of bone in the
middle ear cavity usually represents an ossicular
mass.
Because of the partial or complete replacement of
the tympanic membrane by a bony plate, the handle
of the malleus is not surprisingly that part of the
chain which is most often abnormal and most easily
recognised on the tomograms. If the handle is absent,
the molar tooth appearance of the ossicles will no
longer be evident in the lateral projection and a trian-
gular appearance of the ossicular mass will be seen.
Often the handle of the malleus is bent towards
the atretic plate, to which it may be fixed, and this
gives the typical L-shaped appearance to the ossic-
ular mass (Fig. 2.11). A slit-like attic, so typical of
Treacher Collins syndrome, or an overhanging facial
ridge may obstruct the free movement of the ossicu-
lar chain.
Fig. 2.11. Coronal CT section at the level of the cochlea show-
ing an L-shaped ossicular mass fixed to the atretic plate
(arrow)
P. D. Phelps
2.8
External Auditory Meatus
In congenital deformities of the external ear, the
external auditory meatus may be narrow, short, com-
pletely or partially atretic or may run in an abnormal
direction. It often slopes up towards the middle ear,
and in such cases it may be curved in two planes,
becoming more horizontal at its medial end. The
obstruction in atresia may be due to soft tissue
or bone, but usually both are involved. The tym-
panic bone may be hyperplastic (rarely), deformed
or absent.
The so-called atretic plate may, therefore, be com-
posed partly of a deformed tympanic bone and partly
of downward and forward extension of squamous
temporal and mastoid bones, in which case it may be
pneumatised.
A diagrammatic representation of some of the
congenital structural abnormalities of the middle
and external ears, as shown by coronal section imag-
ing, is given in Fig. 2.12.
2.9
Bone Dysplasias
Deafness in osteogenesis imperfecta tarda may be
conductive, sensorineural or mixed. The radiologi-
cal appearances consist of demineralisation of the
labyrinthine capsule indistinguishable from that of
otospongiosis, but in contrast to otospongiosis, which
affects only the capsule, deficient ossification occurs
in other sites in the petrous pyramid (Fig. 2.13)
The osteopetroses are a group of uncommon
genetic disorders characterised by increased skeletal
density and abnormalities of bone modelling.
Common to all these disorders is a proclivity for
involvement of the calvarium and skull base. An asso-
ciated constellation of neuro-otological symptoms
may result, presumably secondary to bony encroach-
ment on the cranial foramina. Sectional imaging of
the petrous temporal bone shows generalised sclero-
sis and narrowing of the internal auditory meatus.
Encroachment of bosses of bone in the attic may also
be revealed (Fig. 2.14). However, this sclerosis affects
only the peripheral periosteal bone of the petrous
pyramid, and not the endochondral bone of the laby-
rinth of the inner ear (Fig. 2.15).
Congenital Deafness 17

(d (d)

Fig. 2.12. Congenital deformities of the

middle and external ears. (a) Normal
appearance, (b )-(j) various types of
atretic plate, reduced middle ear cavity,
ossicular deformity and anterior facial
nerve t-, Anterior facial nerve; H,
thin atretic plate; .1-, depression of the
tegmen. The diagrams are based on cor-
onal section CT (Reproduced by per-
(f)
mission from PHELPS et al. 1977)

Fig.2.13. Coronal CT section at the level of the cochlear Fig. 2.14. Coronal CT section in a case of craniometaphyseal
coils in a case of osteogenesis imperfecta. The coil of the dysplasia showing sclerotic bone surrounding the labyrinth,
central bony spiral can be seen surrounded by areas of reducing the middle ear cavity and surrounding the facial
rarefaction nerve (arrow)
18 P. D. Phelps

Fig. 2.15. Axial CT in another patient with a sclerotic bone

dysplasia - Engelmann's disease. That the densitometry read-
ings for the cochlear capsule were rather low. The sclerosis is
of the periosteal bone around the capsule

2.10
Branchial Cysts, Sinuses and Fistulae

Remnants of the fetal branchial arch pouches give

rise to congenital abnormalities of the head and neck
manifest as branchial cysts, sinuses or fistulae. Peri-
auricular sinuses or cysts are a feature of first bran-
chial cleft abnormalities, but it is difficult to know
whether these "ear pits", which are usually periau-
ricular and are found in the branchio-oto-renal syn-
drome, are inclusion dermoids in the developing
pinna or whether they are remnants of the first bran-
chial groove epithelium. Alternatively, a first arch
sinus tract parallels the external auditory meatus and
may cross the middle ear cavity (Fig. 2.16). This is
always superior to the hyoid bone. The majority of
branchial cleft anomalies arise from the second bran-
chial system (CUNNINGHAM 1999), and the external
opening, if present, is found along the anterior border
of sternomastoid; the internal opening is in the ton-
sillar fossa. Fistulae, sinus tracts or cysts may occur
anywhere between but always below the hyoid bone.
These branchial cysts are well shown by CT or MRI
(Fig. 2.17). Anomalies of the third and fourth pouch
complex in which there is absence or hypoplasia of
b
the thymus and/or parathyroid glands are known as
Fig. 2.16. a Axial CT sections in a patient with a branchial
the Di George complex, and there are usually vari-
sinus tract crossing the anterior part of the middle ear cavity
ous craniofacial anomalies and abnormalities of the (arrow). b Coronal sections of the same patient show the tract
middle ear (Fig. 2.18) as well as cardiovascular defor- extending from a defect in the condylar fossa of the temporo-
mities. mandibular joint across the middle ear
Congenital Deafness
Fig. 2.17. Axial CT of the neck showing a typical second bran-
chial arch cyst (asterisk)
References
Alexander G (1904) Zur Pathologie und pathologischen Anat-
omie der kongenitalen Taubheit. Arch Klin Exp Ohren
Nasen Kehlkopfheilkd 61:183-219
Bamiou DE,et al (2000) Temporal bone computed tomography
findings in bilateral sensorineural hearing loss. Arch Dis
Child 82:257-260
Cock E (1838) The pathology of congenital deafness. Guy's
Hosp Rep 7: 289-307
Cunningham MJ (1999) Practical paediatric otolaryngology.
Lippincott-Raven, New York, p667
Michel EM (1863) Memoire sur les anomalies congenitales de
I'oreille interne. Gazette Med Strasbourg 4:55-58
19
Fig. 2.18. Two axial CT sections in a patient with Di George
complex showing minor deformities of the labyrinth - dilated
dysplastic lateral semicircular canals (black arrows) - and of
the middle ear - deformed fused ossicles (white arrows)
Mondini C (1791) Anatomica surdi nati sectio. Bononiensi sci-
entarium et artium instituto atque academia commentarii.
Bononiae Vll:419-428
Phelps PD (1986) Congenital cerebrospinal fluid fistulae of the
petrous temporal bone. Clin Otolaryngolll:79-92
Phelps PD (1994) Imaging for congenital deformities of the
ear. Clin Radiol 49:663-669
Phelps PD, Lloyd GA, Sheldon PW (1977) Congenital deformi-
ties of the middle and external ear. Br J Radiol 50:714-727
Phelps PD, Coffey RA, Trembath RC, et al (1998) Radiological
malformations of the ear in Pendred's syndrome. Clin
Radiol 53:268-273
3 Imaging-related to Cochlear Implants
K.BRADSHAW

CONTENTS preverbal children are the largest and most challeng-

ing population of children who are implant candi-
3.1 Introduction 21 dates.
3.2 Components of a Cochlear Implant 21
3.2.1 External Components 21
3.2.2 Internal Components 21
3.3 Implant Terminology 22
3.3.1 Intracochlear/Extracochlear 22 3.2
3.3.2 Monopolar/Bipolar 22 Components of a Cochlear Implant
3.3.3 Single-ChanneIlMulti-Channel 22
3.4 Selection Criteria for Children
to Receive a Cochlear Implant 22 Cochlear implant systems vary in design of specific
3.4.1 Preoperative Imaging for Cochlear Implant 23 features but all provide a means of detecting noise,
3.4.1.1 Computed Tomography 23 processing the sound and conveying this electrical
3.4.1.2 Magnetic Resonance Imaging 24 signal via implanted electrodes to remaining audi-
3.5 Abnormal Preoperative Imaging Results: tory nerve tissue.
Conditions Implanted/Not Implanted 26
3.5.1 Congenital Anomalies 26
3.5.2 Labyrinthitis Ossificans 28
3.6 Postoperative Imaging 28 3.2.1
3.7 Postoperative Complications 30 External Components
3.8 Conclusion 32
References 32
- Microphone.
- Speech processor.
- Connecting wire to either a percutaneous elec-
3.1 trode or, more commonly, a transcutaneous trans-
Introduction mitter. An FM carrier wave transmits the informa-
tion via an external transmitter coil to an internal
Damage or malformation of the cochlea or the deli- receiver-stimulator. In this method normally both
cate structures within the cochlea causes sensori- the external and internal receiver-stimulator are
neural hearing loss (SNHL). Sensory hearing impair- magnetised to maintain a good contact across the
ment cannot be rectified surgically, but many sensory skin and to keep the transmitter coil correctly
losses can be helped with conventional acoustic hear- aligned to the internal receiver.
ing aids. In the profoundly deaf child where there
is little residual hearing, acoustic amplification will
not give significant benefit. Cochlear implant systems
electrically stimulate remaining auditory nerve tissue 3.2.2
in the cochlea to induce a sensation of hearing. Internal Components
Profoundly deaf children who receive cochlear
implants at a young age have been able to develop Internal receiver-stimulator. Here the signal is
auditory and verbal communication even though converted back to an electrical signal
they have little or no experience of hearing. Young - Connecting wire to the implanted electrodes.
- Implanted electrodes, which may be ring-shaped
K. BRADSHAW, MD
or ball-shaped.
Consultant Radiologist, Birmingham Children's Hospital,Steel- To induce an electrical field, the current needs to
house Lane, Birmingham B4 6NH, UK flow from an active electrode or positive pole to a
22
reference electrode or negative pole. There may be
a separate reference electrode, or it can be incor-
porated into the array of the active electrodes. The
internal implant package is sealed in a biocompatible
material such as Silastic. This isolates it from body
tissue and avoids any undesired non-auditory stim-
ulation or tissue changes and also ensures that the
implant is not affected by body fluids. The electrical
signal generated stimulates the remaining auditory
nerve fibres in the cochlea and this signal is trans-
mitted up the auditory neural pathway to the brain
to give the implanted child a sensation of hearing.
Adult studies have shown that this is perceived as a
mechanical or electrical-type voice.
3.3
Implant Terminology
3.3.1
Intracochlear/Extracochlear
The terms "intracochlear" and "extracochlear" are
used to describe the site of the active electrodes of a
cochlear implant. Extracochlear systems can be con-
sidered less invasive because an active electrode is
placed outside the cochlea on the promontory or
round window. Extracochlear electrodes are more
distant from the auditory nerve tissue inside the
cochlea and therefore normally require higher cur-
rents. Intracochlear electrodes are inserted inside the
cochlea, which requires the surgeon to drill into and
therefore cause some damage to the cochlea, with loss
of any residual hearing. The loss of any residual hear-
ing has to be balanced against the additional benefits
which may be afforded by intracochlear multi-chan-
nel stimulation. Less current is required with intra-
cochlear systems, and they can convey more complex
information more effectively.
3.3.2
Monopolar/Bipolar
This distinction refers to the relative positions of the
active and reference electrodes. In monopolar sys-
tems the active and reference electrodes are positioned
remote from each other. If the active and reference
electrodes are in close proximity, the implant is known
as bipolar. Effectively, the major difference is that cur-
rent is spread over a wider area with monopolar sys-
tems than with bipolar configurations, which activate
K. Bradshaw
more discreet groups of neurones. Bipolar stimula-
tion can be advantageous where information is sent
to different groups of nerve fibres, but more current
is required to produce the same level of stimulation
with bipolar than with monopolar electrodes because
fewer fibres are stimulated around the electrode.
3.3.3
Single-ChanneI/Multi-Channel
In a multi-channel device, several electrodes are
implanted and different information comprising the
components of speech is conveyed to different elec-
trodes. A single-channel system may be a variety of
things. It may be a single-electrode system, having
one electrode through which all the information
is transmitted. Occasionally, several electrodes are
implanted but only one of them is selected to convey
the signal, or, alternatively, the same information
could be transmitted through several active elec-
trodes. This latter type of system can be described as
"single-channel, multi-electrode".
Modiolus-hugging implants are a second-gener-
ation cochlear implant that aims to achieve better
results by having the electrode positioned closer to the
neural elements within the modiolus. However, these
electrodes may cause slightly more insertion trauma.
At the present time, intracochlear multi-channel
cochlear implants lead to better patient performance
and are used most frequently. However, for certain
pathologies either single-channel devices or extraco-
chIear devices are the implant of choice and therefore
the radiologist will occasionally encounter these.
There are multiple speech-processing strategies that
are used in processing the raw signal from the micro-
phone in the speech processor. Manufacturers have
developed various signal waveforms, both analogue
and digital, and both time and stimulus pulses to
create variations in pitch and auditory components.
3.4
Selection Criteria for Children
to Receive a Cochlear Implant
Children must have bilateral profound deafness at an
age of 2-17 years and have no medical contraindica-
tions to implantation. The earliest possible implanta-
tion is advantageous. Under 2 years of age, cochlear
implantation is possible, but estimation of hearing
and residual handicap is difficult. Additionally,
Imaging-related to Cochlear Implants
although the cochlea attains full adult size before
birth, the squamous, petrous, mastoid and tympanic
portions of the temporal bone undergo consider-
able growth after birth. Fifty percent of this post-
natal growth occurs in the first 2 years of life, and
for this reason cochlear implantation is normally
delayed until after 2 years, allowing the family to
come to terms with the deafness and also allowing
for some petrous temporal bone growth. The initial
selection process is via a local team, who then refer
the child on to a paediatric cochlear implant team.
At this point detailed behavioural tests, electro-
physiological tests, and speech and language assess-
ment are carried out. Candidates should demonstrate
little or no benefit from conventional amplification,
receive educational support which includes a strong
auditory or oral component, be psychologically and
motivationally suitable, and have appropriate family
and educational expectations and support.
Imaging plays a significant role once the decision
to implant has been made. Radiological investigation
therefore takes place after rigorous screening and is
often seen by parents as the last hurdle before the
operation. This should be taken into consideration at
the patient's scanning session.
3.4.1
Preoperative Imaging for Cochlear Implant
Imaging alerts the surgeon to conditions that may
complicate implantation, aids selection of the type of
implant and the side most suited to implantation and
detects the rare complete contraindication.
The majority of children referred for cochlear
implantation are under the age of 6 years and there-
fore require some form of sedation or anaesthesia
before imaging. Normally oral sedation is sufficient,
as sleep disturbance due to noise from the MRI scan-
ner does not occur because of the hearing loss.
CT and MRI should be performed at a single scan-
ning session. CT is used to assess the temporal and
parietal bones and middle ear,MRI and CT are used for
cochlear morphology and cochlear patency, and MRI is
used to assess the retrocochlear auditory pathway.
3.4.1.1
Computed Tomography
Pre-implantation CT has been proven to be essential
and accurate (WOOLLEY et al. 1997; LANGMAN and
QUIGLEY 1996; FAVA et al.1996). One-millimetre sec-
tions are obtained through both temporal bones with
23
the scan plane angled to avoid the orbits. CT can
either be performed spirally or by continuous axial
images: axial images are regarded as having improved
image quality and spatial resolution, but compara-
ble images have been obtained spirally in paediatric
patients with a lower radiation dose (LUKER et al.
1993). The slight loss of image quality in spiral
CT compared with conventional CT before cochlear
implantation is largely compensated by the possibil-
ity of high-quality reconstructions. CT allows careful
review of the anatomy of the middle and inner ear
and the aeration of the mastoid cavity. There is only
a 5% magnification factor in CT scans, so accurate
measurements can be made (MAHER et al. 1995).
The standard surgical approach is via a trans-mas-
toid posterior tympanotomy. Reporting the CT scan
following the proposed surgical route helps prevent
relevant misses first, parietal bone thickness, as the
implant needs to be sited in the parietal bone, then the
aeration of the mastoid or any excessive lateral posi-
tion of the sigmoid sinus. The course of the facial nerve
should be tracked because an abnormal course of the
mastoid component of the facial nerve or a dehiscent
(incomplete bony covering) tympanic segment of the
facial nerve must be excluded. Middle ear hazards such
as a high-riding (higher than the floor of the ipsilat-
eral internal auditory meatus) dehiscent jugular bulb
or abnormal position of the carotid canal should be
excluded. The middle ear cleft can also be assessed for
aeration. A fluid filled middle ear cleft, although not
a contraindication, should be treated with grommets
before implantation. Active otitis media is also a rel-
ative contraindication and should be treated before
implantation. The cochleostomy site is adjacent to
the round window recess, so patency and orientation
should be assessed as this is where the surgeon will
insert the implant into the cochlea (Fig. 3.1).
Fig. 3.1. Coronal CT showing the site of the cochleostomy. An
implant is seen entering the basal turn
24 K. Bradshaw

CT will give accurate information on otic capsule

morphology and cochlear patency, but it does have
limitations. In children CT has been shown to under-
estimate cochlear patency before implantation (BATH
et al. 1993), and MRI shows obliteration of the cochlea
better than CT (SILBERMAN et al. 1994). This is
because only MRI will reveal fibrous obliteration,
although ossification of the cochlea will be detected
on CT. Evaluation of the patency and the length and
width of the bony canal of the cochlear nerve gives
indirect information about that nerve (FATTERPE-
KAR et al. 2000). Patients with congenital sensorineu- Fig. 3.2. Axial high-resolution T2-weighted (T2-W) MRI show-
ing both scala tympani and scala vestibuli
ral hearing loss have significantly smaller length and
width of the bony canal than normal subjects. The
mechanism for this is believed to be an anomalous
development of the otic vesicle that inhibits normal
production of nerve growth factor, preventing normal
growth of the developing cochlear nerve. The integ-
rity of the cochlear nerve may affect the improve-
ment in hearing performance obtained after cochlear
implantation: patients with a normal bony canal may
benefit more than those with a hypoplastic bony
canal. a
Complete occlusion of the neural foramen on CT
indicates absence of the cochlear nerve. This is a
complete contraindication to cochlear implantation.

3.4.1.2
Magnetic Resonance Imaging

MRI demonstrates the fluid-containing spaces of the

inner ear and posterior fossa structures better than
does CT. Ideal sequences are a heavily T2-weighted
(T2-W) volume CISS (constructive interference in b
the steady state) sequence, axial and coronal 2- to
3-mm high-resolution T2-W sequences through the
cochlea and the pons, and a standard T2-W axial
sequence through the whole head.
The CISS sequence takes approximately 7 min. As
this is a volume acquisition, multiplanar reconstruc-
tion can be performed and reconstructions down to
0.7 mm can be obtained. The CISS and the high-res-
olution T2-W axial scan can exquisitely demonstrate c
the patency of both the scala tympani, which is nor-
Fig. 3.3. a Oblique parasagittal reconstruction of a CISS
mally used for cochlear implantation and the scala
sequence showing the nerves in the medial internal auditory
vestibuli (Fig. 3.2). canal. b T2-W parasagittal scan of the distal internal audi-
Small fibrous bands of early labyrinthine obliteration tory canal where the four individual nerve bundles appear
can be identified. The vestibulocochlear nerve can be distinct (anterosuperior, facial nerve; anteroinferior, cochlear
seen on both the T2-W high-resolution and the CISS nerve; posterosuperior, superior vestibular nerve; posteroinfe-
rior, posterior vestibular nerve). c Axial high-resolution T2-W
sequence. The advantage of the CISS sequence is that
MRI showing the nerves entering the cochlea. At mid-cochlear
parasagittal oblique views can be reconstructed through level, as on the left, the anterior nerve bundle is the cochlear
the distal internal auditory meatus, aiding identification nerve and the posterior nerve bundle is the inferior vestibular
of the nerve and assessment of its size (Fig. 3.3). nerve. A, anterior; p, posterior
 Imaging-related to Cochlear Implants 25

The 3D CISS sequence appears to reveal anatomic
structures significantly better than high-resolution
T2-W 2D sequences and in all patients shows patho-
logical structures considerably more often than the
2D sequences (CZERNY et al. 1998).
The vestibulocochlear nerve should be 1.5 times
the diameter of the facial nerve. The vestibuloco-
chIear nerve has been shown to be smaller in the deaf
population, and there is significant correlation with
nerve size and spiral ganglion cell count. However,
the wide variability of nerve size in hearing and deaf
subjects militates against its usefulness as a radiolog-
ical sign (NADOL and Xu 1992).
The acoustic pathway within the brainstem is best
assessed on the high-resolution T2-W images and
also the T2-W images through the head. CISS imag-
ing of the posterior fossa will not pick up subtle
abnormalities in the cochlear nuclei or the pathway
through the brainstem. Therefore, even centres capa-
ble of performing a CISS study also obtain high-res-
olution T2-W scans. In centres where the scanner is
unable to perform these ultrafast gradients, the high-
resolution T2-W sequences are performed. The axial
images include the pons, while the coronal images
include the remaining central acoustic pathway to
the level of the superior temporal gyri. The standard
axial T2-W scan through the head will exclude white
matter disease or malformations at the level of the
higher auditory cortex and less subtle abnormalities
of the auditory pathway.
Increased perilymph pressure can result in rapid
release of perilymph during cochleostomy - the
so-called perilymphatic gusher. Certain patholo-
gies are known to cause gushers: specifically, large
vestibular aqueduct syndrome and X-linked con-
genital deafness, as there is no barrier between the
internal auditory canal and the cochlea (Figs. 3.4,
3.5).

-... " :
,

r
~l,' .....
'-,' Jt --~
i ~
I

'.
,_.
.......
.I
>:-,
,. ,
..
....:..
-',
.' . ~
a
~ b
Fig. 3.4. a CT showing a large vestibular aqueduct (arrow). b MRI showing large vestibular aqueducts (arrows)

a b
Fig. 3.5. Axial a CT and b MRI showing X-linked congenital deafness. Note the absence of the bony partition between the fundus
of the internal auditory meatus and the adjacent bony turns of the cochlea (arrow). The nerve is seen entering the cochlea and
therefore this is still suitable for implantation
26
On coronal CT, convexity of the oval window may
indicate the presence of elevated inner ear pressure
(DJOURI et al. 1996). If, on MRI, the angle between the
first and second part of the facial nerve is obtuse, or if
there is fluid along the facial nerve canal, the surgeon
should be alerted to the possibility of a perilymphatic
gusher. This is not a contraindication to implanta-
tion, but a useful word of caution for the surgeon.
Unilateral sensorineural hearing loss can occur
only if the abnormality is somewhere between the
cochlea and the cochlear nuclei in the lower brain-
stem. Due to fibres decussating and post-decussa-
tion bilateral representation, unilateral involvement
of the auditory pathway above the cochlear nuclei
usually causes bilateral sensorineural hearing loss
that is greater in the ear contralateral to the side of
the lesion. Cortical acoustic pathway lesions rarely
cause disruption of the auditory function, but may
result in auditory agnosia, i.e. sound is received but
interpretation is impaired.
Electrophysiological testing cannot be performed
in young children preoperatively to assess the integ-
rity of the nerve, and therefore tests are performed at
surgery. Much work has been done on regional cere-
bral blood flow and spectroscopy. Increased regional
cerebral blood flow in the region of Heschl's gyrus
and the superior temporal gyrus indicates an intact
retrocochlear pathway. Functional MRI will have an
increasing role to play in assessing the integrity of the
retrocochlear pathway. A recent study by HOFMAN et
al. (1999) has shown activation of the superior tem-
poral gyrus during promontory stimulation. They
used a glass fibre cable into the MRI room and a
stimulation cable with a small battery-operated stim-
ulator located at the patient's ear. The stimulator
transforms the light pulse into an electric pulse and
transfers it to a needle at the promontory, which
in turn stimulates the auditory nerve. The images
show specific activation of Heschl's gyrus in cases of
subjects with good postoperative performance and
normal listeners. Poor performers did not produce
a good response. It seems that this method may not
only demonstrate functional integrity but also make a
prognosis about performance with cochlear implant
(LENARZ et al. 1999).
K. Bradshaw
3.5
Abnormal Preoperative Imaging Results:
Conditions Implanted/Not Implanted
3.5.1
Congenital Anomalies
Malformation of the cochlea can cause deafness and
meningitis. Cochlear implantation in children with such
malformations is complex. Previously, cochlear dyspla-
sia was regarded as a contraindication to implantation.
More recently, there have been a number of studies
showing that successful results can be obtained in a
range of inner ear malformations (Figs. 3.6, 3.7).
A study (LUNTZ et al. 1997) reported on a series
of ten consecutive cases where the pathology ranged
from common cavity (3 cases) to incomplete cochlear
partition (4 cases) and enlarged vestibular aqueduct
(1 case). Multi-channel cochlear implants were used
in all cases, and in two cases additional surgical
mastoid obliteration was performed at the time of
implantation due preoperative recurrent meningitis
or chronic otitis media with episodes of mastoiditis.
Good insertion depths were achieved in all children,
with 22 electrodes inserted except in one subject with
the common cavity deformity, in whom only 16 elec-
trodes could be inserted. Cerebrospinal fluid gushers
were encountered frequently but were not difficult
to control. Long-term outcome, assessed by hearing
results and speech development, was good in all chil-
dren, the results being slightly less certain in the chil-
dren with the common cavity deformity.
Another study (MUNRO et al. 1996) has shown
that subjects with Mondini's dysplasia are being
implanted with some success. All implanted individ-
uals with Mondini's dysplasia were able to detect
and recognise a variety of environmental noises that
would previously have been inaudible, and there was
a definite improvement of quality of life in all cases.
When assessing a congenitally abnormal ear before
implantation, it should be remembered that some
conditions have a propensity to cause recurrent
meningitis and therefore post-meningitis fibrosis, so
a detailed search for ossification or fibrous bands
should be undertaken. In addition, there is an
increased incidence of aberrant course of the facial
nerve. Although cochlear implantation in children
with complex congenital malformations requires spe-
cial attention during and after surgery, reasonable
results can be obtained leading to improved quality
oflife (WEBER et al. 1996).
 Imaging-related to Cochlear Implants 27

Fig. 3.6. a Coronal CT show-

ing the presence of a basal
turn but absence of sep-
tation of the middle and
apical turns. b Coronal T2-W
MRI showing a right Mon-
b dini deformity

a b

Fig. 3.7a, b. CT and MRI of common cavity. A nerve trunk is seen entering the cavity.
 28
3.5.2
Labyrinthitis Ossificans
Labyrinthitis ossificans, or obliterans, has a number
of causes, but it is seen particularly following men-
ingitis and also secondary to extensive otitis media.
Those congenital conditions which predispose to
meningitis can also cause deterioration in residual
hearing. In deafness secondary to meningitis where
cochlear implant has been considered, a suitable
time should have passed before implantation so that
any risk of residual infection has been eliminated.
However, progressive ossification which would make
cochlear reimplantation more difficult is a significant
risk, so the two factors have to be balanced against
each other. Ideally, at least 6 months should have
passed to rule out risk of recurrent infection - but
ossification has been detected as early as 4-5 months
after meningitis. The important point for the radiolo-
gist is that there should be as short a time as pos-
sible between imaging and implantation in order to
provide as accurate an assessment as possible for
surgery, because of the potential for rapid progres-
sion of the cochlear obliteration. Frequently the ossi-
fication process is more advanced in the semicircular
canals than in the cochlea, so the semicircular canals
K. Bradshaw
should be examined thoroughly (MUREN and BRED-
BERG 1997) (Fig. 3.8).
In cases of complete cochlear ossification, it has
been shown that there are still significant numbers of
surviving spiral ganglion cells (NADOL 1997). Com-
plete ossification was previously thought to be a con-
traindication because of mechanical obstruction and
uncertainty about the level of function that could be
achieved by stimulation of an ossified cochlea. Now,
however, surgical techniques and cochlear implant
design have been developed to enable implantation
in the ossified cochlea (BALKANY et a1. 1998; LENARZ
et a1. 1999). Successful implantation leading to signifi-
cant hearing benefit has been achieved in the ossified
cochlea (BIRD et a1. 1999).
3.6
Postoperative Imaging
Following cochlear implantation, postoperative imag-
ing of the electrode is important in order to measure
the depth and angle of insertion and the position
of the electrode, so that kinking and incorrect place-
ment can be clearly identified. Plain radiographs of
Fig. 3.8. a Bilateral CT showing neo-ossification within the
cochlea. b T2-W MRI showing absence of high signal within
the petrous temporal bone in the location of the otic capsule
 Imaging-related to Cochlear Implants
the temporal bone have been shown to be sufficient
for postoperative assessment, CT being reserved for
when plain radiographs cannot adequately assess the
location or when postoperative infection is suspected
(SHPIZNER et al. 1995). Most paediatric centres per-
form a modified Stenvers view in the unsedated child
2-3 days postoperatively or before the electrode is
"turned on" (Fig. 3.9a). There have been studies com-
paring this with postoperative CT (CZERNY et al.
2000); however, in terms of ease of practice, radiation
burden and total cost, any improvement in accuracy
of information by CT is not sufficient to alter current
practice.
The surgeon's impression of the depth of pen-
etration can vary from radiological measurements
a CT is preferable because of the better multiplanar
--
b
Fig. 3.9. a Normal postoperative film. b Drawing to show posi-
tion of completely inserted electrode. This shows the superior
and lateral semicircular canal, vestibule and cochlea. The point
of cochleostomy is seen inferior to the vestibule and is pro-
jected on a line drawn through the superior semicircular canal
and vestibule
29
because of a limited view of the electrode array, vari-
ations across patients in the location of the cochle-
ostomy in relation to the round window, and varia-
tions across patients in the length and diameter of
the cochlear duct, and the location of the array with
respect to the inner wall may not be constant along
the whole array.
There are a number of papers documenting how
to assess implantation depth, and they are essen-
tially similar (CZERNY et al. 1997; MARSH et al. 1993;
COHEN et al. 1996; Xu et al. 2000).
The insertion depth can be assessed by counting
the number of electrodes that project medial to the
cochlear promontory. The site of the cochlear prom-
ontory is assessed by extending the line that transects
the superior semicircular canal and the vestibule.
There are advocates of digital imaging with intermit-
tent fluoroscopy who claim that this has higher diag-
nostic quality and a lower radiation dose (LAWSON et
al. 1998).
The organ of Corti has 2.75 turns, but the spiral
ganglion is only present for the first 1.75 turns.
Thus the spiral ganglion only reaches the middle and
second turn of the cochlea. Approximately 25 mm
(ARIYASU et al. 1989) along the lateral wall equals
approximately 5400 , and therefore this is the full func-
tional insertion depth, although depths of up to 800 0
can be achieved. As shown in Fig. 3.9b, a line is drawn
connecting the superior semicircular canal and the
vestibule. This will intersect the cochleostomy at its
entrance adjacent to the round window.
CT is safe after implantation, although there is sig-
nificant artefact from the implant. If available, spiral
reformations, allowing improved visualisation of the
route of the implant (Fig. 3.1).
The role of MRI after implantation is still under
debate. As a general rule, a functioning cochlear
implant is a contraindication to a magnetic resonance
scan. However, there are numerous papers that inves-
tigate this issue. The potential risks are: (1) Force on
the implant by a strong magnetic field; (2) a current
being induced in the implant by the radiofrequency
(RF) field; (3) damage of the implant by the RF;
(4) MRI image distortion caused by the implant;
(5) implant and adjacent tissue heating due to the
absorption of RF.
Studies have shown that it is the torque on the
internal magnetic field that represents a hazard,
with induction of an electric current and with sig-
nificant magnetisation of the implant rendering the
implant afunctional (TEISSL et al. 1999; SHELLOCK
and SCHATZ 1991).
30 K. Bradshaw

There is a body of evidence suggesting that lower

field strength magnets are safe but the higher strength
of 1.5 T is unsafe (WEBER et al. 1998; SHELLOCK
and SCHATZ 1991). Magnetless cochlear implants
have been developed and have been tested at 1.5 T,
with results suggesting no contraindications to MRI
(WEBER 1998).
To summarise: standard postoperative imaging
practice is in the first instance to obtain a plain mod-
ified Stenvers view, which identifies problems and
serves as a baseline for future imaging. If problems
arise in the future, repeat plain film with a low thresh-
old for CT is recommended.

3.7
Postoperative Complications

Postoperative complications of cochlear implants

Fig. 3.10. Serial axial CT showing route of implant through the
cochlea
normally take the form of infection, facial nerve
problems, implant misplacement or fracture, and
device failure. If there is clinical suspicion of a com-
plication, initially a repeat film is performed for com-
parison, but there should be a relatively low threshold
for CT scanning (Figs. 3.11, 3.12). The exception is
if there is swelling over the body of the implant sug-
gesting local inflammation, when ultrasonography to
evaluate the overlying soft tissues can be helpful
Fluid in the middle ear cavity can be a sign of
middle ear infection; however, more rarely, leakage
of CSF around the implant has been documented in
patients with a malformed cochlea (PAGE and EBY
1997). Chronic infection in the labyrinth or irritation
can cause bony obliteration of the labyrinth around
the cochlear implant. More serious complications
of an infected implant have been reported: local
infection in a screw anchoring the percutaneous ped-
estal resulted in lateral sinus thrombosis, presumably
owing to retrograde thrombophlebitis with second-
ary temporal lobe infarction (STAECKER et al. 1999).
Facial nerve stimulation has been recorded in
approximately 7% of subjects after implantation
(KELSALL et al. 1997). The labyrinthine facial nerve
is the mostly likely area to be stimulated. CT evalu-
ation of the labyrinthine nerve, fallopian canal and
the cochlea may provide some indication of poten-
tial problems (BIGELOW et al. 1998). Facial nerve
stimulation can occur in the presence oflow-imped-
ance cortical bone changes from any cause, i.e. those
conditions producing reduced bone density that
allows passage of electrical stimuli through the tem-
poral bone from the implant in the cochlea to
Imaging-related to Cochlear Implants
Fig. 3.11. Plain film showing kinking of the implant at the
cochleostomy
Fig. 3.12. Fracture of the cochlear implant in the basal turn of
the cochlea. (Courtesy of Dr. Swamp Chavda)
the facial nerve. Assessment for bony changes sug-
gesting osteomyelitis or conditions with abnormal
mineralisation should be sought, e.g. osteogenesis
imperfecta. Facial nerve stimulation has been doc-
umented in a patient with low bone mineral den-
sity who was on long-term renal dialysis. CT showed
lucency of the otic capsule and cochlear ossification
(IWASKI et al. 1998).
31
Device failure or even device fracture can occur.
This is particularly liable to occur when the child
has frequent temper tantrums or head banging. Plain
films can demonstrate fractures; however, the diag-
nosis may missed due to projectional overlap. CT
reconstructions along the implant normally clarify.
Malposition of the implant through a false tract
can occur, as shown in Fig. 3.13.
Fig. 3.13. a Modified Stenvers view showing abnormal course
of the cochlear implant. Note how the tip of the implant is
abnormally projected above the internal auditory meatus. b
Coronal reconstruction from an axial CT dataset showing the
implant passing through a false tract
32
3.8
Conclusion
With the improvements in cochlear implant design
there is an ever-increasing number of children who
are suitable candidates for implantation. The paedi-
atric implant centres are already reporting increasing
demands and waiting times. As the role for implanta-
tion expands, there will be a greater need for pre-
and postoperative imaging and greater exposure of
radiologists to this device.
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4 Syndromes Associated with Hereditary Deafness
A.FRYER

CONTENTS 4.9.1 Waardenburg Syndrome 50

4.9.2 Tietz Syndrome 51
4.1 Introduction 35 4.9.3 LEOPARD Syndrome 51
4.2 Non-syndromic Deafness 36 4.9.4 Deafness,Onycho-osteodystrophy,
4.3 Syndromes with External Ear Anomalies 37 Retardation Syndrome 51
4.3.1 Treacher Collins Syndrome 37 4.10 Chromosomal Syndromes 52
4.3.2 Nager Syndrome 38 4.10.1 Down Syndrome 52
4.3.3 Miller Syndrome 38 4.10.2 Turner Syndrome 52
4.3.4 Oculo-auriculo-vertebral Spectrum 38 4.11 Miscellaneous 52
4.3.5 Townes-Brock Syndrome 39 4.11.1 Jervell-Lange-Nielsen Syndrome 52
4.3.6 Branchio-oto-renal Syndrome 39 References 52
4.3.7 Lacrimo-auriculo-dento-digital Syndrome 40
4.3.8 CHARGE Association 40
4.3.9 Di George Syndrome 41
4.4 Syndromes with Eye Disorders 41
4.4.1 Usher Syndrome 41
4.1
4.4.2 Alstrom Syndrome 42
4.4.3 Norrie Syndrome 42 Introduction
4.4.4 Other Syndromes 42
4.5 Syndromes with Musculoskeletal Involvement 42 About 1 in 1000 children are affected by severe deaf-
4.5.1 Stickler Syndrome 42 ness at birth or during early childhood (i.e. the pre-
4.5.2 Chondrodysplasias 44
lingual period). A further 1 in 1000 children become
4.5.3 Sclerosing Bone Dysplasias 44
4.5.4 Osteogenesis Imperfecta 45 deaf before adulthood. Most of the studies assessing
4.5.5 Oto-palato-digital Syndrome 45 the genetic causes of deafness address the prelingual
4.5.6 Craniostenoses 45 forms as these are the most severe, and currently about
4.5.7 Ectrodactyly Syndromes 45 60% of these cases are attributed to genetic causes.
4.5.8 Facio-audio-symphalangism Syndrome 46
From an aetiological viewpoint, hereditary deaf-
4.5.9 Wilderwanck Syndrome 46
4.6 Syndromes with Renal Involvement 46 ness is subclassified into non-syndromic and syn-
4.6.1 Alport Syndrome 46 dromic forms. The syndromic forms account for 30%
4.6.2 Others 47 of deafness in children and the hearing loss is fre-
4.7 Syndromes with Neurological Involvement 47 quently conductive or mixed. There are over 400 dis-
4.7.1 Neurofibromatosis Type 2 47
tinct syndromes that include hearing impairment as
4.7.2 Others 47
4.8 Syndromes with Endocrine/Metabolic Diseases 48 a feature, and the genes for a couple of dozen of these
4.8.1 Pendred Syndrome 48 have been identified.
4.8.2 Mucopolysaccharidoses 49 In non-syndromic deafness, autosomal dominant,
4.8.3 Oligosaccharidoses, Gangliosidoses, Lipidoses 49 autosomal recessive and X-linked recessive patterns
4.8.4 Peroxisomal Disorders 49
of inheritance are recognised. Of these, autosomal
4.8.5 Wolfram (DIDMOAD) Syndrome 49
4.8.6 Johanson-Blizzard Syndrome 50 recessive deafness is the most common, especially in
4.8.7 Kallmann Syndrome 50 those patients with severe or profound hearing loss.
4.8.8 Perrault Syndrome 50 Of patients with prelingual genetic deafness, 82% are
4.9 Syndromes with Integumentary Involvement 50 autosomal recessive, 15% are autosomal dominant
and 1-3% are X-linked cases. Autosomal dominant
forms seem to contribute to a large proportion of
A. FRYER,MD postlingual cases. STEEL (2000) estimates that there
Consultant Geneticist, Alder Hey Children's Hospital, Eaton may be over 100 loci associated with non-syndromic
Road, Liverpool, Ll2 2AP, UK deafness.
36
The identification of some of the genes respon-
sible for both syndromic and non-syndromic deaf-
ness has resulted in the distinction between these cat-
egories becoming more blurred as genes identified
in some syndromes also appear to be responsible for
non-syndromic forms, e.g. mutations in myosin 7A
have been associated with Usher syndrome type 1B,
a form of autosomal dominant non-syndromic deaf-
ness known as DFNAll, and also a form of autoso-
mal recessive non-syndromic deafness, DFNB2. Simi-
larly, mutations in the Pendred syndrome gene can
result in a form of autosomal recessive non-syn-
dromic deafness, DNFB4. In addition to nuclear
genes, mutations in the mitochondrial genome have
been shown to be responsible for syndromic as well
as non-syndromic hearing impairment, including the
impairment associated with susceptibility to amino-
glycoside antibiotics (VAN CAMP and SMITH 2000).
In the following sections, I am following the clas-
sification used by GORLIN et al. (1995) in their book
Hereditary Hearing Loss and Its Syndromes, to which the
interested reader should refer for a detailed and com-
prehensive account of all of the disorders discussed in
this chapter and many more. I will describe only those
syndromes that are comparatively common or well-
known. Where there are reported radiological or gross
anatomical abnormalities of the middle or inner ear,
they will be indicated. Some syndromes are included
where no such abnormalities occur, such as those listed
in Sects. 4.2 and 4.6. They are included because of the
importance of some of these syndromes (e.g. Usher,
Alport) to inherited deafness. Where one or more of the
genes responsible have been identified, these are indi-
cated. In some situations molecular confirmation of the
clinical diagnosis is straightforward as nearly all cases
are due to a limited number of mutations in a single
gene (e.g. Apert syndrome, achondroplasia). In most
cases, however, molecular analysis is difficult as each
family may have a unique or rare mutation and a search
for the mutation may only be undertaken in a research
laboratory. Molecular diagnosis is particularly difficult
in those disorders such as Usher syndrome that exhibit
genetic heterogeneity (i.e. mutations in more than one
gene can cause the same clinical syndrome).
4.2
Non-syndromic Deafness
The majority of disorders within this category are
not associated with any recognised abnormalities on
imaging. The most common genetic disorder identi-
A. Fryer
fied, that due to mutations in connexin 26 (DFNBl),
is associated with a radiologically normal inner ear
(DENOYELLE et al. 1999).
GORLIN et al. (1995) list some disorders with non-
syndromic hearing loss, normal external ears but
with structural abnormalities within the middle and
inner ears:
- Familial ossicular malformations. A number of
families have been reported with autosomal dom-
inant inheritance and a variety of abnormalities
of the malleus, incus and stapes. In some families
there may be associated thickened ear lobes, but
no other external features.
- Autosomal dominant Mondini dysplasia. Mondini
dysplasia classically refers to a failure of the
cochlea to fully develop: instead of the normal two
and three-quarter turns there are only the basal
one and a half turns, with the top part resolving
into a single large sac. It may be seen in a variety
of syndromic forms of hearing loss including Pen-
dred, Klippel-Feil, Wilderwanck, Di George, Johan-
son-Blizzard and Kabuki syndromes (lGAWA et
al. 2000), but it may be an isolated finding, and
families with autosomal dominant isolated Mon-
dini malformation have been reported. SMITH and
HARKER (1998) comment on a family reported by
CHAN et al. (1991) in which a mother and two of
her children had asymmetric hearing loss. They
were found to have variably hypoplastic cochleas
with dilated vestibules and abnormal semicircular
canals. The authors state that they have seen a simi-
lar family with hearing loss in three generations
and Mondini malformations in the two younger
generations.
- X-linked progressive mixed hearing loss with peri-
lymphatic gusher (DFN3). Patients with this disor-
der are characterised by profound sensorineural
deafness with or without a conductive component
(stapes fixation) associated with a developmental
anomaly of the inner ear. They have a history of
perilymphatic gusher at stapes surgery or a radio-
logical abnormality of the cochlea on CT scan. This
is reported as deficient or absent bone between
the lateral end of the internal auditory meatus
and the basal turn of the cochlea, together with
a dilated internal auditory meatus (PHELPS et al.
1991). Communication between the internal audi-
tory canal and the labyrinth occurs through an
enlarged vestibule. CREMERS (1996) points out that
the stapes may not be fixed in actuality; the mal-
formation may produce increased pressures in the
cochlea leading to turgor at the round window,
resulting in reduced movement of the footplate.
Syndromes Associated with Hereditary Deafness
This disorder is due to mutations in the POU3F4
gene at Xq21.1 (BITNER-GLINDZICZ et al. 1995).
A class of mutations result from deletions that lie
upstream of the coding region of the POU3FA gene
and result in phenotypes that are identical to point
mutations in the gene. These upstream deletions
must presumably result in the loss of transcrip-
tional regulatory elements.
4.3
Syndromes with External Ear Anomalies
4.3.1
Treacher Collins Syndrome
Treacher Collins syndrome is an autosomal dominant
disorder with an incidence of approximately 1in 50,000.
The gene, which maps to chromosome 5q, was identi-
fied in 1996 and was termed Treacle. The disorder is
characterised by (a) abnormalities of the pinnae, which
are frequently associated with atresia of the external
auditory canals and anomalies of the middle ear ossi-
cles; (b) hypoplasia of the facial bones, especially the
mandible and zygomatic process; (c) antimongoloid
slanting of the palpebral fissures with colobomata of
the lower eyelids and a paucity of eyelashes medial to
the defect, and (d) cleft palate. These abnormalities are
Fig. 4.1a-c. Treacher Collins syndrome. a Baby with classical features who also had a large U-shaped cleft palate and required a
tracheostomy. b Same baby in profile. c Two-year-old child with milder phenotype and no cleft palate
37
not present in all cases (Fig.4.1). Bilateral hearing loss
has been found in at least 55% of patients.
The clinical features are usually bilaterally sym-
metrical and can be so mild that it may be difficult
to reach a diagnosis on clinical grounds alone. Under
such circumstances, genetic counselling can be very
difficult. It has been stated that 60% of cases appear
to arise as new mutations, but it is important to
be sure, as far as possible, that neither parent is
minimally affected. In this regard, the use of cra-
niofacial radiographs, particularly the occipitomen-
tal view enabling visualisation of the zygomatic com-
plex' has on occasion proved useful (DIXON 1995).
Radiographic and surgical studies have shown
a variety of abnormalities that may be present,
although the inner ear is usually normal. GORLIN
et al. (1995) note inner ear abnormalities, but this
was a typographical error according to SMITH and
HARKER (1998). PHELPS et al. (1981) reported on
the tomographic appearance in 22 patients and com-
mented on the largely symmetrical lesions and the
slit-like appearance of the attic and the antrum on
coronal section. A CT scan study by PRON et al. (1993)
of 23 patients revealed that the external auditory
canal morphology was largely symmetrical, either
bilaterally stenotic (31%) or atretic (54%) or normal
(15%). Canals that were atretic were atretic for both
cartilaginous and bony portions. In some canals, the
cartilaginous portion was normal but the bony por-
38
tion was stenotic. In most cases the middle ear cavity
was bilaterally hypoplastic (85%) or missing (4%).
Cavities that were hypoplastic were also deformed,
having a rectangular rather than oval shape, and the
hypoplasia was present throughout the cavity, both
above and below the semicircular canal. A bony bar
was observed bilaterally in some patients. The ossicle
deformities were completely symmetrical and were
largely hypoplasia (46%) or absence of the ossicles
(46%). Ossicles that were hypoplastic also tended to
be ankylosed to either the lateral or the medial wall of
the tympanic recess. The morphologies of the outer
canal and the middle ear appeared to be related:
increasing degrees of outer canal malformations were
directly associated with ossicle and cavity malforma-
tions. The inner ear was normal in all cases, even in
those with a mixed hearing loss. The cause of the sen-
sorineural component is not clear in these patients.
4.3.2
Nager Syndrome
Nager syndrome closely resembles Treacher Collins
syndrome in facial appearance and ear abnormal-
ities, but is associated with preaxial limb defects,
which include absent or hypoplastic thumbs, and
there may be hypoplasia of the radius with radioulnar
synostosis. External ear defects and cleft palate are
more common in Nager syndrome, while lower lid
colobomata are more frequent in Treacher Collins
(GORLIN et al.I995). Inheritance is uncertain as there
has been evidence for autosomal dominant and auto-
somal recessive inheritance in different families.
A. Fryer
4.3.3
Miller Syndrome
Another disorder that resembles Treacher Collins
facially is Miller syndrome (acrofacial dysostosis
with post-axial defects), with malar hypoplasia, small
jaw, cleft lip and/or palate, prominent eyes with
down-slanting palpebral fissures and an ectropion.
There may be a coloboma of the eyelids. Miller syn-
drome is associated with postaxial limb defects, con-
sisting of absence or incomplete development of the
fifth digital ray in all four limbs and, frequently, fore-
arm abnormalities. Inheritance is believed to be auto-
somal recessive, but a family with a possible domi-
nant mode of inheritance has been described.
4.3.4
Oculo-auriculo-vertebral Spectrum
Oculo-auriculo-vertebral spectrum (hemifacial micro-
somia, Goldenhar syndrome) is a predominantly uni-
lateral malformation of the structures derived from
the first and second branchial arches. The ear is small,
often with preauricular ear tags in a line between the
front of the ear and the side of the mouth, and there
is macrostomia and failure of formation of the man-
dibular ramus and condyle (Fig.4.2). An epibulbar
dermoid may be present, and if it is, the term "Gold-
enhar syndrome" is usually applied. Cervical vertebral
anomalies are common, as are cardiac defects.
Both conductive and, less frequently, sensorineu-
ral hearing loss have been reported in over 50% of
cases. The aetiology of the hearing loss is diverse and
Fig.4.2a,b. Oculo-auriculo-vertebral
spectrum. a Four-month-old baby with
mild features and incomplete phenotype
demonstrating the asymmetrical nature
of the abnormalities. Macrostomia with
left lateral clefting of the mouth. b Pro-
file showing preauricular ear tags. There
was stenosis of the external auditory
meatus. The eyes, cervical vertebrae and
heart were normal
Syndromes Associated with Hereditary Deafness 39

includes anomalies of the middle and external ears,
hypoplasia or agenesis of ossicles, aberrant nerves,
patulous eustachian tube and abnormalities of the
skull base with descent of the floor of the middle
cranial fossa. PHELPS et al. (1983) found that some
patients also had anomalies of the inner ear.
Most cases are sporadic, but there are occasional
families where the disorder appears to follow autoso-
mal dominant inheritance.
hearing loss was shown to be due to malformations
of the malleus and the incus (FERRAZ et al. 1989). It
remains unclear whether the sensorineural hearing
loss can be attributed to inner ear malformations
(ROSSMILLER and PASIC 1994).
The gene responsible, SALLi, was identified in
1998 (KOHKHASE et al. 1998), and this gene may be
required during the development of the outer, middle
and inner ear.

4.3.5 4.3.6
Townes-Brock Syndrome Branchio-oto-renal Syndrome

The clinical presentation of this autosomal domi-
nant syndrome is highly variable. It is frequently
characterised by anorectal anomalies in addition to
abnormalities of the hands ( which usually present as
triphalangeal thumb or preaxial polydactyly), outer
ear deformities and sensorineural hearing loss which
is usually congenital; a small conductive component
is often present (POWELL and MICHAELIS 1999). The
external ear abnormalities typically include small
ears with an overfolded upper helix and small anti-
helix, sometimes cupped with preauricular tags.
Descriptive terms for the ears have included "satyr"
and "lop". Hearing loss is common and ranges from
mild to profound. In some cases, the hearing loss has
appeared to be progressive. In one report, conductive
Branchio-oto-renal (BOR) syndrome is an auto-
somal dominant disorder with incomplete pene-
trance and variable expressivity. Hearing loss is the
most commonly observed feature (93% of affected
individuals)of this syndrome, which accounts for
approximately 2% of profoundly deaf children. The
branchial anomalies consist of laterocervical fistu-
las or cysts. Outer ear anomalies most frequently
include preauricular pits and tags, a malformed
auricle and, less commonly, malpositioned ears,
microtia and atresia to stenosis of the external audi-
tory canal (Fig. 4.3). At the most severe end of the
spectrum, anotia has been observed. Facial palsy
can be a feature, and if it is present in association
with a severe external ear malformation, distin-

Fig.4.3a-c. Branchio-oto-renal syndrome. a Eight-year-old boy who had bilateral branchial sinuses repaired and mixed hearing
loss with abnormal pinnae. He has a dysplastic, non-functioning left kidney and an identified mutation in EYA1. He also has
asymmetry of the scapulae, which is not usually seen in the syndrome, though facial asymmetry and facial palsy are reported. b
Profile of the same patient showing abnormal pinna with hearing aid. c Ear showing typical site for preauricular pit in patient
with branchial sinuses
40
guishing BOR from oculo-auriculo-vertebral spec-
trum can be difficult (Sect. 4.3.4). Hearing impair-
ment can be mild to profound and can be either
conductive, sensorineural or mixed (as seen in 50%
of cases). It is sometimes progressive. Anomalies
of the middle ear mainly comprise hypoplasia or
absence of the three ossicles and malformation
of the middle ear cavity. Inner ear findings have
consistently shown cochlear hypoplasia, often with
reduced size despite the presence of two to two and
a half turns. In other cases the cochlear hypoplasia
may be more extensive. Hypoplasia of the semicir-
cular canals is common. Dilated vestibular aque-
ducts may be seen, but not usually as an isolated
finding (if dilated vestibular aqueduct is found in
isolation, Pendred syndrome should be considered;
see Sect. 4.8.1).
The frequency of renal anomalies has varied from
study to study. The anomalies include unilateral or
bilateral hypoplasia, dysplasia and aplasia. In addi-
tion, abnormalities of the collecting system such as
duplication or absence of the ureter, megaureter,
blunted or distorted calyces and extra or bifid pelvis
have been observed. In general, the renal anomalies
tend to be non-progressive, and in most cases they
are not clinically significant. Mutations in the gene
EYAI at 8q13.3 have been identified in this syndrome
(ABDELHAK et al. 1997). There seems to be no cor-
relation between the type and position of the muta-
tion and the presence of renal abnormalities. Muta-
tions in this same gene have also been identified in
the oto-cervico-facial syndrome. ENGELS et al. (2000)
reported a family with features resembling those of
BOR where a mutation was identified in SALLI (see
Sect. 4.3.5).
There is a separate disorder known as BOR2
where the main features are deafness, preauricular
sinus, external ear anomaly and commissural lip pits.
Patients with this disorder do not have lateral cer-
vical fistulae and the disorder does not map to the
BORllocus; indeed, it has been mapped to lq31 in a
Dutch family.
4.3.7
Lacrimo-auriculo-dento-digital Syndrome
Lacrimo-auriculo-dento-digital (LADD) syndrome
is an autosomal dominant disorder characterised by
absence or atresia of the lacrimal puncta or canaliculi
leading to epiphora and chronic eye infections; cup-
shaped or malformed ears; sensorineural or conduc-
tive deafness; and abnormalities of the hands, with
A. Fryer
hypoplastic, bifid or finger-like thumbs, clinodactyly
of the fifth finger and other minor anomalies. The
aetiology of the hearing impairment has been inves-
tigated in some cases. ENSINK et al. (1997) reported
a case with stapes fixation and LEMMERLING et al.
(1999) reported a CT scan study of one 16-year-old
patient showing ossicular chain abnormalities, espe-
cially of the incus and stapes. The oval window was
very narrow or absent. Both cochleas were hypo-
plastic and showed modiolar deficiency. A common
cavity between the vestibule and lateral semicircular
canal was bilaterally present.
4.3.8
CHARGE Association
CHARGE is an acronym standing for coloboma of the
iris or retina, heart defects (of any variety), atresia
of the choanae, retarded growth and development,
genital abnormalities (mostly in the male and which
might include small penis and undescended testes)
and ear abnormalities. The ear anomalies consist
mostly of simple protruding ears, but can include
over-folded helices and absent crus of the antihelix.
Deafness may be sensorineural, conductive or both.
In addition to these features a variety of other abnor-
malities may be found, including unilateral or bilat-
eral facial palsy, renal anomalies, tracheo-oesopha-
geal fistula and limb defects. To make a diagnosis,
four of the major criteria should be present and
one should be either choanal atresia or a coloboma.
The majority of patients have been sporadic cases.
A variety of chromosomal abnormalities have been
reported, including 22q11 deletions, but in most cases
the cause is unknown.
From a radiological viewpoint, a number of stud-
ies have reported on the inner ear findings in
CHARGE patients. Deformed or absent semicircular
canals are a hallmark of this association (MoRGAN
et al. 1993; BAMIOU et al. 2000). LEMMERLING et al.
(1998) found cochlear abnormalities in 13 of 14 ears
examined by CT. GUYOY and VIBERT (1999) found
that the inner ear anomaly consists of a specific form
of labyrinthine dysplasia that includes Mondini dys-
plasia of the pars inferior (cochlea and saccule) and
complete absence of the pars superior (utricle and
semicircular canals). Middle ear anomalies can also
occur, including absence of the incus and stapes,
absence of the oval window and absence of the stape-
dius muscle. Absence of the pyramidal eminence and
tympanic sinus also occur in most cases (DHOOGE et
al. 1998).
 Syndromes Associated with Hereditary Deafness
4.3.9
Oi George Syndrome
Di George syndrome (DGS) is characterised by
thymic abnormalities, hypoparathyroidism due to
absence or hypoplasia of the parathyroid glands, con-
genital heart disease (typically, obstructive lesions of
the outflow tracts) and facial dysmorphism (Fig. 4.4).
In 90% of cases, a 22q 11 deletion is detectable cytoge-
a
Fig.4.4a,b. Di George syndrome. a Eleven-year-old girl with
a 22q11 deletion who additionally had Fallot's tetralogy and
velopharyngeal insufficiency. Typical facial features include
wide and prominent root and bridge to the nose with bul-
bous tip and hypertelorism with short, narrow palpebral fis-
sures. A small mouth is often characteristic in younger chil-
dren. b Same girl in profile. Rather square shape to the ears.
The appearance of the ears can be quite variable in this syn-
drome: they are often low set and simple, and can be posteri-
orly rotated and rounded
41
netically by the technique of fluorescent in situ hybri-
disation. Several other chromosomal abnormalities
have been reported in DGS, in particular monosomy
lOpl3 and 17p13. RYAN et al. (1997) reported a large
series of European patients with 22q11 deletions; data
on hearing were available for 159 patients, of whom
33% had abnormal hearing. A number of auditory
findings have been reported, including absent ossi-
cles, stapedial footplate separation from the oval
window, atresia of middle ear cleft, absent oval
window, absent horizontal canal and stapedial hypo-
plasia. In the inner ear, bilateral Mondini anomalies
have been reported. SMITH and HARKER (1998) state
in their review that individuals with 22q11 deletions
have not had inner ear malformations and suggest
that DGS patients with Mondini malformations may
have a cause other than a 22q11 deletion.
4.4
Syndromes with Eye Disorders
4.4.1
Usher Syndrome
Usher syndrome is an autosomal recessive disorder
characterised by hearing impairment and retinitis pig-
mentosa (RP). Three clinical forms (USH1, USH2 and
USH3) have been described. USH1 is the most severe
form, with profound congenital deafness, constant ves-
tibular dysfunction and prepubertal onset of RP. Six
loci have been mapped (1A at 14q32, 1B at llql3.5,
1C at llp15.1, lD at lOq, IE at 21q, and IF at 10), but
only three genes,for USH1B, USH1C and USHlD,have
been identified. The USH1B gene has been identified as
MY07A. This gene encodes an unconventional myosin
found in the stereocilia of the hair cells in the organ
of Corti. USH1B is the most common form of type 1
Usher syndrome. ASTUTa et al. (2000) identified muta-
tions in MY07A in 64 out of 151 families that they
studied. USH1D is reported to be the second most
common form of type 1 Usher syndrome, and the
gene identified, CDH2, is a novel cadherin-like gene
which is also responsible for the non-syndromic form
of recessive deafness DFNB12 (BaRK et al. 2001).
USH2 is milder, with congenital moderate to severe
hearing impairment, normal vestibular responses
and RP with onset in the first or second decade of life.
USH2 is the most common form of Usher syndrome,
accounting for more than half of all cases. Three loci
have been mapped: 2A at 1q31, 2B at 3p23-24.2 and
2C at 5q14.3-21.3. The USH2A gene has recently been
42
identified and encodes a novel tissue-specific extra-
cellular matrix protein or cell adhesion molecule.
One particular mutation within the gene, 2314delG,
is particularly prevalent (Lm et al. 1999).
USH3 is characterised by progressive hearing loss,
variable vestibular problems and RP of variable age
of onset. A gene has been mapped to 3q21-25.
It has been reported that 25% of patients with
Usher syndrome have had at least one psychotic epi-
sode, and this observation has resulted in a number
of brain imaging studies in this syndrome. SCHAEFER
et al. (1998) performed a quantitative analysis of MRI
studies of 19 patients with Usher syndrome (8 type
1 and 11 type 2) and found a significant decrease in
intracranial volume and in size of the brain and cere-
bellum, with a trend towards an increase in the size of
the subarachnoid space. They suggested that the dis-
ease process in Usher syndrome involves the entire
brain and is not limited to the posterior fossa and
auditory and visual systems.
4.4.2
Alstrom Syndrome
Alstrom syndrome is a rare autosomal recessive dis-
order. The gene responsible maps to chromosome
2p but has not yet been identified. RUSSELL-EGGITT
et al. (1998) report that all patients have progres-
sive visual impairment presenting in infancy, usu-
ally with nystagmus or photophobia. Infantile car-
diomyopathy is common. Obesity, short stature and
hypogonadism occur, and type 2 diabetes mellitus
may develop by the third decade. This can be associ-
ated with and even preceded by acanthosis nigri-
cans. Sensorineural deafness is common, a pro-
gressive hearing impairment developing in the first
decade, with the majority of reported teenagers being
affected. The aetiology of the sensorineural loss is
undetermined.
4.4.3
Norrie Syndrome
Norrie syndrome is an X-linked recessive disorder
that can be quite variable in its manifestations. The
main features are a pseudoglioma of the eyes due to a
vitreoretinal dysplasia, mental retardation (severe in
one-third and mild in one-third, with normal intel-
ligence in the remaining third) and, in about 35%
of cases, manifest progressive sensorineural hearing
loss that develops after 10 years of age (range 4
A. Fryer
months to 45 years). The hearing loss is of cochlear
origin, and histopathological study of the cochlea has
revealed atrophy of the stria vascularis and degenera-
tion of the hair cells and cochlear neurons.
The gene responsible maps to Xpl1.3 and was
identified in 1992. The protein it encodes has been
named norrin and is a member of a superfamily of
growth factors.
4.4.4
Other Syndromes
GORLIN et al. (1995) list a variety of other syn-
dromes associated with ocular findings, including
those with:
- Pigmentary retinopathy, other than Usher syn-
drome and Refsum syndrome (see Sect. 4.8.4).
The presence of PR and sensorineural deafness
should also prompt consideration of a mitochon-
drial DNA mutation.
- Myopia, other than Stickler syndrome (Sect. 4.5.1)
- Corneal anomalies, e.g. Harboyan syndrome (con-
genital corneal dystrophy with progressive hearing
loss: autosomal recessive), band keratopathy and
hyperparathyroidism (possibly autosomal domi-
nant).
- Iris anomalies
- Cataracts
- Optic atrophy - GORLIN et al. (1995) list 18 syn-
dromes which include this combination, including
Wolfram syndrome, which is discussed further in
Sect. 4.8.5.
- Colour blindness
4.5
Syndromes with
Musculoskeletal Involvement
4.5.1
Stickler Syndrome
Stickler syndrome is an autosomal dominant disor-
der; the majority of patients (perhaps 75%) probably
have a mutation in the type 2 collagen gene. The syn-
drome is characterised by the ophthalmological find-
ings of abnormal vitreous gel architecture, orofacial
features, deafness and arthritis (SNEAD and YATES
1999).The congenital vitreous anomalies are regarded
by SNEAD and YATES as a prerequisite for the diagno-
sis. Most patients are myopic, and the myopia is usu-
Syndromes Associated with Hereditary Deafness 43

ally congenital, non-progressive and of high degree. Some children with Stickler syndrome have a typi-
Cataracts can occur, and these are sometimes con- cal appearance with a flat midface, depressed nasal
genital. There is a high risk of retinal detachment. The bridge, short nose and micrognathia (Fig.4.5).With
non-ocular features are very variable in expression. increasing age these features become less distinc-

a b

d e

Fig.4.5a-e. Stickler syndrome. a Baby

born with a marked Pierre Robin anom-
aly that required tracheostomy. Has
high myopia and type 1 vitreous phe-
notype. The flat nasal bridge and mid-
facial hypoplasia are mild but typical. b
Same baby in profile demonstrating the
micrognathia. c Same child's U-shaped
cleft palate. d Seven-year-old girl who
also presented with Pierre Robin and
has a type 1 vitreous anomaly. Midface
is now more developed than in infancy.
e Same girl in profile
44
tive. Midline clefting of the palate is reported in
25% of patients and may vary from a severe Pierre
Robin sequence to the mildest manifestation of a
bifid uvula. Many young children have joint hyper-
mobility, but with increasing age the hypermobility
is reduced or lost, and a degenerative arthropathy of
variable severity may develop by the third or fourth
decade. During childhood, a mild spondylepiphy-
seal dysplasia may be evident on skeletal X-rays
(TEMPLE 1989). Other reported features include slen-
der extremities, long fingers and mitral valve pro-
lapse in a few patients.
Deafness may occur for two reasons. Firstly, a
serous otitis media may be associated with cleft and
high-arched palate. In some patients an ossicle defect
may contribute to a conductive component. Secondly,
a sensorineural component has been observed in up
to 40% of patients, which is typically high-tone and
often so subtle as to be asymptomatic. The aetiology
of the sensorineural component is unknown, but in
mice with type 2 collagen defects, the temporal bone
shows underdevelopment of the organ of Corti in the
lower turn of the cochlea, with absence of inner and
outer hair cells, supporting cells and nerve endings.
Stickler syndrome can be subclassified by the type
of vitreous abnormality (SNEAD and YATES 1999).
Patients with a type 1 vitreous anomaly appear to
have defects in type 2 collagen, whereas those with
a type 2 vitreous anomaly probably have defects in
other collagen molecules. So far mutations in the
COU1Al gene are the only ones that have been iden-
tified in the type 2 subgroup.
4.5.2
Chondrodysplasias
Achondroplasia is autosomal dominant, with 80% of
cases representing new mutations. The gene respon-
sible is the fibroblast growth factor receptor type 3,
and neady all patients have mutations at the same
position 1138, most having a G~A transition lead-
ing to a glycine to arginine substitution. The other
common mutation at the same position is a G~C
transition. The diagnosis is usually suspected clini-
cally at birth because of rhizomelic shortening with
a broad and prominent forehead, and is then con-
firmed by the characteristic skeletal radiology. Medi-
cal complications are not insignificant, and the neu-
rological and respiratory complications are a major
worry to patients and their carers (YOUNG 1998).
Detailed guidelines for the follow-up of these chil-
dren have been published by the COMMITTEE ON
A. Fryer
GENETICS OF THE AMERICAN ACADEMY OF PAE-
DIATRICS (1995). HUNTER (1998) reviewed the fre-
quency of complications in a cohort of 193 patients.
From an auditory viewpoint, otitis media was
reported in 90% of all children by the age of 2 years
and 80% had undergone insertion of grommets by
the age of 10. Middle ear infection had contributed
to conductive hearing loss in 38% of adults and to
speech delay in 20% of children. Other reports of
hearing loss in achondroplasia indicate that it may
be conductive or sensorineural and therefore not
always related to infection. Progressive otosclerosis
has been reported and temporal bone anomalies
have been identified on CT scan, the most signifi-
cant change being a "rotational" effect resulting in an
abnormal orientation of inner ear structures relative
to middle ear structures, and of middle ear struc-
tures relative to the external auditory canal. No find-
ings related to the cause of the sensorineural loss
were reported (COBB et al. 1988).
Spondyloepiphyseal dysplasia congenita (SEDC) is
an autosomal dominant disorder resulting in very
short stature. Onset is at birth, but severe short stat-
ure may not be noticeable until 2-3 years of age. The
diagnosis is based on the skeletal radiology. Muta-
tions in the type 2 collagen genes have been reported
in a number of patients. Myopia (non-progressive
myopia of 5 dioptres or greater) has been reported
in 50% of patients. Vitreoretinal degeneration and
retinal detachment can occur. Cleft palate occurs in
15-20% of patients, and moderately severe sensori-
neural hearing loss occurs in about 30%.
Kniest dysplasia is also autosomal dominant and
also due to mutations in the type 2 collagen gene,
the most common mutation being an in-frame dele-
tion usually located between exons 12 and 24. As with
Stickler syndrome and SEDC, ophthalmic complica-
tions and cleft palate are common. Mixed hearing
loss is common.
4.5.3
Sclerosing Bone Dysplasias
This group comprises a variety of rare disorders
including craniometaphyseal dysplasia, craniodi-
aphyseal dysplasia, frontometaphyseal dysplasia,
Camurati-Engelmann syndrome and osteopetrosis
(WILSON and VELLODI 2000) associated with hyper-
ostosis and sclerosis of some of the skull bones in
association with other skeletal changes. Mixed hear-
ing loss that is slowly progressive is found in varying
percentages of patients depending on the disorder.
Syndromes Associated with Hereditary Deafness
4.5.4
Osteogenesis Imperfecta
Osteogenesis imperfecta constitutes a group of dis-
orders of type 1 collagen. In the non-lethal forms of
the condition, hearing loss is common, but it is rare
before 10 years of age. Conductive loss may begin in
the second or third decade due to ossicular immobil-
ity at the stapes footplate, though fractures of the
stapedial crura and atrophy of the stapes may con-
tribute. Sensorineural loss may occur later and be
progressive.
4.5.5
Oto-palato-digital Syndrome
Oto-palato-digital syndrome (OPD) is an X-linked
disorder. Those affected are characterised by a dis-
tinctive face (sometimes described as "pugilistic"),
short stature, cleft palate (in nearly all males), con-
ductive hearing loss and a generalised bone dyspla-
sia, with a characteristic appearance to the hands
and feet ("tree-frog" appearance). Most male patients
have mild learning difficulties. Conductive hearing
loss is found in some but not all patients, and abnor-
mally shaped middle ear ossicles and small external
auditory canals have been reported.
4.5.6
Craniostenoses
A large number of these syndromes are described
and conductive hearing loss is common:
- Apert syndrome is autosomal dominant and char-
acterised by craniosynostosis, midfacial malfor-
mations and syndactyly of the hands and feet. A
significant proportion of patients have learning
difficulties, usually mild. Mild congenital conduc-
tive hearing loss may be common, sometimes due
to serous otitis media, but stapedial footplate fixa-
tion has been reported in a number of patients.
The gene responsible is the fibroblast growth
factor receptor type 2 (FGFR2) and two muta-
tions, Ser252Trp and Pr0253Arg, account for 98%
of cases of Apert syndrome studied.
- Crouzon syndrome, which manifests craniosynos-
tosis, maxillary hypoplasia, shallow orbits and pro-
ptosis with normal digits, is also autosomal domi-
nant. Conductive hearing loss has been reported in
45
over 50% of patients. The primary causes are ossic-
ular anomalies, ossicular fixation with intratym-
panic bony masses and closure of the oval window.
Atresia of the external ear canals and obliquity
of the ear canals and facial nerve have also
been described (GORLIN et al. 1995). Mutations
in FGFR2 have been identified except for the
cases of CrOU:lon syndrome with acanthosis nigri-
cans, where a specific mutation in FGFR3 occurs
(Ala391Glu).
- Pfeiffer syndrome resembles Crouzon syndrome
but is associated with broad thumbs and halluces,
usually with varus deformity, and other minor dig-
ital anomalies. Conductive hearing loss has been
described in some cases and fixation of the ossicu-
lar chain reported. Mutations in FGFRl and FGFR2
have been found in Pfeiffer patients.
- Saethre-Chotzen syndrome is autosomal dominant
and affects 1 in 25,000 to 1 in 50,000 liveborns. It
primarily involves the coronal suture, leading to
a brachycephalic skull with short anteroposterior
diameter. Associated features include facial asym-
metry, ptosis, small ears with prominent crura,
brachydactyly, cutaneous syndactyly and broad
halluces. Mutations in the TWIST gene which
maps to 7p have been identified in about 50% of
patients examined. (JABS 1998). A further 20-25%
of patients have had mutations in FGFR3 and, less
commonly FGFR2. Conductive hearing loss, usu-
ally mild, has been reported in 15-50% of patients
(GORLIN et al. 1995).
Sometimes patients may have these syndromes
without craniostenosis. Afamily reported by HOLLWAY
etal. (1998) had the Pr0250Arg mutation in the FGFR3
gene, and in this family some gene carriers had
bilateral congenital sensorineural deafness of moder-
ate degree (with sparing of the higher frequencies in
some family members). The authors could not exclude
the possibility that the deafness was being inherited
separately from the FGFR3 mutation.
4.5.7
Ectrodactyly Syndromes
Ectrodactyly(split hand/foot) has been reported with
deafness and no other features, or as part of syn-
dromes such as ectrodactyly-ectodermal dysplasia-
clefting syndrome (EEC) and Goltz syndrome (focal
dermal hypoplasia).
 46
4.5.8
Facio-audio-symphalangism Syndrome
The facio-audio-symphalangism syndrome is an
autosomal dominant disorder; mutations have been
identified in the noggin gene (GONG et al. 1999). The
syndrome is characterised by multiple synostoses,
characteristic facies with a long, thin, hemicylindrical
nose and progressive conductive hearing loss. Anky-
losis of the stapedial foot plate and malformations of
the stapes and incus have been reported.
4.5.9
Wilderwanck Syndrome
The major features of this syndrome are fused cervi-
cal vertebrae, abducens palsy with retracted globe
(Duane syndrome) and sensorineural and/or con-
ductive hearing loss (Fig. 4.6). Hearing loss is found
in at least 30% of cases; it may be unilateral and is
variable in severity. A variety of middle ear abnor-
malities have been reported, including atresia of the
external auditory canal, abnormal and absent ossi-
cles, abnormal or stenotic internal auditory meatus,
stapes fixation and stapes gusher. In the inner ear,
a variety of abnormalities have been reported affect-
ing the cochlea, vestibule, semicircular canals and
internal auditory canals. The inner ear can be normal
or, occasionally, the abnormalities can be unilateral.
Michel aplasia (complete absence of inner ear struc-
tures) has been reported in Wilderwanck and Klip-
pel-Feil syndromes but is not specific to these disor-
a b
A. Fryer
ders. The overwhelming majority of patients with
Wilderwanck syndrome are female and are sporadic
cases. Inheritance is uncertain.
4.6
Syndromes with Renal Involvement
4.6.1
Alport Syndrome
Alport syndrome (hINTER 1997) is most commonly
inherited as an X-linked disorder, though autosomal
dominant and autosomal recessive forms exist. The
X-linked form has a gene frequency of 1 in 5000. The
condition is characterised by a progressive glomer-
ulonephritis associated with ultrastructural lesions
of the glomerular basement membrane on electron
microscopy, characteristic ophthalmic signs (i.e. ante-
rior lenticonus, white macular flecks or both) and
high-tone sensorineural deafness. The deafness is
usually bilateral and may be subclinical at first. It is
often progressive during childhood, particularly in
males, eventually necessitating the use of a hearing
aid. The hearing loss is usually static in adult life, and
even the most severely affected patients retain some
hearing capacity. Occasionally hearing may improve
after a renal transplant, which may be a non-specific
effect due to the treatment of the uraemia. In males,
deafness is present in 83% and clinical presentation
is at an average age of 11 years with an average defi-
cit of 66 decibels. The underlying pathology is not
Fig.4.6a,b. Wilderwanck syndrome. a
Nine-year-old girl with deafness and
a Klippel-Feil anomaly and multiple
hemivertebrae and fusions in the spine.
b Close-up of same patient looking to
the left, demonstrating left abducens
Syndromes Associated with Hereditary Deafness
well delineated, but electron microscope studies have
shown a multilayered basement membrane in the vas
spirale. Alport syndrome is caused by mutations in
one of the type 4 collagen genes - COL4A5 (Xq22),
COL4A3 or COL4A4 (both map to 2q36-37). These
collagens are found in the basilar membrane, parts
of the spiral ligament and stria vascularis. It is pos-
sible that mutations will result in basement mem-
brane splitting as in the glomerulus, and loss of integ-
rity of the basement membrane in the spiral sulcus
might affect adhesion of the tectorial membrane and
in the basilar membrane and its junction with the
spiral ligament.
4.6.2
Others
GORLIN et al. (l995) list a variety of other rare
syndromes where specific forms of glomerulone-
phritis or nephrotic syndrome and deafness occur.
The molecular basis for most of these syndromes
is unknown, though a mutation in the H+-ATPase
gene has been identified (KARET et al. 1999) in the
syndrome of deafness and renal tubular acidosis.
4.7
Syndromes with
Neurological Involvement
4.7.1
Neurofibromatosis Type 2
Neurofibromatosis type 2 (NF2) is an autosomal
dominant disorder characterised by schwannomas
particularly of the vestibular nerves. It is usually con-
sidered an adult-onset disease, but in a UK study
EVANS et al. (l999) showed that at least 18% of suf-
ferers presented in childhood. The presentation in
childhood is different from that in adult onset. Hear-
ing loss or tinnitus were presenting features in only
20% of the children. Frequently these children pre-
sented with an isolated tumour (most commonly a
meningioma), and over 50% had no family history to
alert the clinician to the underlying diagnosis. EVANS
et al. indicate that 10-18% of children presenting with
a meningioma or schwannoma are likely to have NF2
and this possibility should be borne in mind during
the children's follow-up. Another presenting feature
that was common in the UK study was facial palsy.
47
Guidelines have been suggested for the follow-up
of children at risk of developing NF2 because they
have an affected parent. Formal screening for vestib-
ular schwannomas should start at 10 years as it is rare
for them to occur before that time. Audiological tests
including auditory brain stem responses are a useful
adjunct to MRI. MRI with gadolinium enhancement
can detect tumours of 1-2 mm in size. As surgery
would only be contemplated for tumours of approx-
imately 6 mm size, and as tumour growth averages
2 mm/year, screening every 3 years in an individual
with no tumours is probably sufficient. Once tumours
are present, screening should probably be annual.
Patients with NF2 fare better when treated in special-
ist centres. In experienced hands, hearing can be pre-
served with removal of the vestibular schwannomas,
and rehabilitation is possible with auditory brain
stem implants and, on occasion, cochlear implants.
Spinal tumours are very common in NF2, although
only 25-30% of the tumours detected on MRI require
surgery because of symptoms. A baseline MRI of
the brain and spinal cord is warranted in an at-risk
but asymptomatic individual at 12-16 years of age.
Genetic tests are possible in many families so that
such screening can be targeted to affected individu-
als. For children presenting with an isolated meningi-
0ma or schwannoma, full craniospinal imaging with
MRI is advisable as well as full clinical examination
and slit lamp examination of the eyes for the pres-
ence of cataracts. Combined DNA analysis of blood
and tumour tissue can also be very useful in trying to
exclude NF2.
4.7.2
Others
GORLIN et al. (l995) list large numbers of neurologi-
cal syndromes associated with hearing loss. In almost
all of these syndromes, the hearing loss is sensori-
neural, with no reported radiological features in the
middle or inner ear. The majority of these syndromes
are associated with progressive hearing loss, though
the age at onset and speed of progression vary from
syndrome to syndrome. The molecular basis for some
of these conditions is being delineated, including
X-linked hereditary motor and sensory neuropathy
(HMSN) due to mutations in the connexin 32 gene,
autosomal dominant HMSN [KOVACH et al. (l999)
report a family with a point mutation, Ala67Pro,
in the PMP22 gene on 17p, where HMSN and deaf-
ness co-segregate] and deafness/dystonia (DFNl), an
X-linked disorder which also includes visual disabil-
48
ity, fractures and learning disability due to mutations
in a mitochondrial protein (KOEHLER et al. 1999).
4.8
Syndromes with Endocrine!
Metabolic Diseases
4.8.1
Pendred Syndrome
Pendred syndrome is an autosomal recessive disor-
der characterised by prelingual deafness and ade-
nomatous goitre. It occurs in many different popu-
lations and has an estimated incidence of 7.5 per
10,000. It has been estimated to cause 7.5% of all
cases of congenital deafness (FRASER 1965), but this
may be an underascertainment (REARDON et al.
1999). The deafness is typically profound and sen-
sorineural, being more pronounced in the higher
frequencies. The hearing loss can be variable and
of later onset, the latter being often precipitated by
head trauma.
The goitre is variable in its expression and typ-
ically appears around puberty, but is often post-
pubertal, especially in males. Only 33% of patients
develop a goitre by the age of 10 years; up to one-
third of affected adults never manifest clinical signs
of thyroid enlargement and the true diagnosis in
these individuals is often overlooked (REARDON et
al. 1999). There are rare instances of congenital
goitre. There is distinct intrafamilial variability in
the presence and extent of goitre. Most cases are
euthyroid.
Patients may have structural abnormalities of
the inner ear, most classically a Mondini malforma-
tion. This cochlear malformation is often associated
with several other characteristic defects, including
enlargement of the vestibular aqueducts, which can
be present without the classical Mondini defect.
Indeed, PHELPS et al. (1998) studied the radiologi-
cal malformations in 40 patients with Pendred syn-
drome and found enlargement of the endolymphatic
sac in association with a large vestibular aqueduct
in all 20 patients examined by MRI. They concluded
that thin-section high-resolution MRI on a T2 pro-
tocol in the axial and sagittal planes is the imaging
investigation of choice.
Dilated vestibular aqueducts (DVAs) are the single
most common imaging abnormality in sensorineural
deafness dating from infancy or childhood (BAM IOU
A. Fryer
et al. 2000). They are defined as an enlargement of
the endolymphatic duct and sac and are diagnosed
by computed tomography of the temporal bones. Ini-
tial surveys suggest that DVAs may be seen in 12-15%
of unselected sensorineural deafness patients in the
paediatric age group (ARCAND et al. 1991).
In a series of 57 patients with DVAs ascertained
purely on radiological grounds (with no advance
clinical or family information), REARDON et al.
(2000) found that 41 (72%) had Pendred syndrome
- 12 determined on the basis of family history, 27 by
abnormal perchlorate discharge test and 2 in whom
the perchlorate discharge test was normal but molec-
ular analysis identified homozygous mutations in
the PDS gene. A further 8 patients with normal per-
chlorate discharge had heterozygous mutations, sug-
gesting that they too may have PDS. Thus, a total
of 49/57 (86%) of this unselected group of patients
had Pendred syndrome. An additional 2 patients had
branchio-oto-renal syndrome. The vestibular aque-
duct abnormality is rarely seen as the sole inner
ear malformation in branchio-oto-renal syndrome,
usually being described in the context of a range of
other, more typical, radiological associations. This
study indicates that the large majority of patients
in whom DVAs are detected on imaging as the
sole abnormality have Pendred syndrome. A smaller
study of 20 individuals with non-syndromic hearing
loss and DVAs identified 3 people (15%) with Pen-
dred syndrome by mutation analysis only (SCOTT et
al. 2000).
The gene for Pendred syndrome was identified in
1997 and the protein product was termed pendrin.
Pendrin has been discovered to be an anion trans-
porter, e.g. of iodide and chloride ions. In the thyroid,
pendrin probably transports iodide ions through the
apical membrane of the thyrocyte. In the inner ear
its role is less clearly defined. In Pendred syndrome,
the absence of normal pendrin may be associated
with altered anion transport, resulting in a per-
turbed osmotic state. This may lead to an abnormal
hydrostatic effect, resulting in a widened endolym-
phatic duct and a malformed cochlea. The sensory
cell defect could also occur as a consequence of
the altered osmotic environment. A different mecha-
nism may underlie the deafness in the small subset
of patients with later-onset deafness occurring after
head trauma. In these cases, the enlarged endolym-
phatic duct may allow abnormal transmission of
fluid pressure from the cranial cavity to the inner ear
fluids, which then ruptures the delicate membrane
separating the two fluid chambers of the inner ear,
the endolymph then damaging the sensory cells.
Syndromes Associated with Hereditary Deafness
Numerous mutations in the pendrin gene have
now been identified. In Northern Europeans. four
mutations account for about 60% of the mutant
alleles. Pendrin mutations have been identified in
families with deafness without thyroid disease. Muta-
tion analysis is not straightforward - apart from the
large size of the gene. over 35 mutations have so
far been identified. distributed throughout the gene.
and many clinically certain cases are known where
one or both mutations have not been identifiable by
current technical approaches. There is no direct cor-
relation between the nature of the underlying muta-
tion and the clinical features of deafness. thyroid
dysfunction and cochlear malformation (EVERETT
and GREEN 1999).
4.8.2
Mucopolysaccharidoses
The mucopolysaccharidoses (MPS) are a group
of inherited lysosomal storage diseases. All follow
an autosomal recessive inheritance pattern except
Hunter syndrome (MPS II. iduronate-2-sulphatase
deficiency). which is an X-linked recessive disorder.
The clinical features of these disorders vary. but
common features include characteristic skeletal
abnormalities (dysostosis multiplex) in all except
Morquio syndrome (MPS IV). with mild changes in
Sanfilippo (MPS III); marked short stature (except in
Scheie MPS I S). and stiff joints are common. In addi-
tion. unusual hair. corneal clouding. hepatospleno-
megaly. cardiac disease and hearing loss are relatively
common. Some of these disorders are associated
with mental retardation and a progressive downhill
course. Hearing loss varies in type and severity
with the specific mucopolysaccharidosis. In type I H
(Hurler syndrome). most have a conductive loss with
chronic serous otitis media. but some have a progres-
sive sensorineural loss as well. In type IS (Scheie).
possibly 10-20% of adults develop a mixed loss of
mild to moderate severity in middle adult life. In
MPS II (Hunter). hearing loss is found in 25-50% of
patients. is usually mixed and is not usually severe.
In MPS III (Sanfilippo). hearing loss is uncommon.
but if it does occur. it presents in early school age
years and may be progressive. In MPS IV (Morquio)
hearing loss is common. usually mixed and not usu-
ally severe. Onset is typically in the second decade.
In MPS VI (Maroteaux-Lamy). hearing loss. mainly
conductive and related to repeated bouts of otitis
media. is reported in 25% of patients with onset at
age 5-8 years.
49
4.8.3
Oligosaccharidoses, Gangliosidoses, Lipidoses
These storage disorders are often associated with pro-
gressive neurological deterioration and hearing loss
may be associated. In a-mannosidosis. severe high-
frequency hearing loss is found in most if not all juve-
nile cases. Sensorineural loss has also been reported
in ~-mannosidosis. Mixed losses are reported in
aspartylglucosaminuria. sialidosis. galactosialidosis
and multiple sulphatase deficiency. Severe sensori-
neural loss has been seen in the late stages of Tay-
Sachs disease and Niemann-Pick disease.
4.8.4
Peroxisomal Disorders
A variety of these including adrenoleucodystrophy
can be associated with sensorineural loss. An impor-
tant condition is Refsum syndrome. an autosomal
recessive disorder characterised by retinitis pigmen-
tosa. peripheral neuropathy and. in some cases. hear-
ing loss and ichthyosis. Night blindness is often the
first symptom and is noted during the second decade
of life. Sensorineural hearing loss has been docu-
mented in about 80% of patients. beginning in the
second or third decade. but may not become severe
until the fourth decade. It may be asymmetric ini-
tially. Diagnosis is usually based on finding an ele-
vated serum phytanic acid concentration. and treat-
ment consists of diet modification with or without
plasmapheresis.
4.8.5
Wolfram (DIDMOAD) Syndrome
Wolfram (DIDMOAD) syndrome is an autosomal
recessive disorder caused by mutations in a novel
gene. mapping to 4p16 and isolated in 1998. Similar
features have been reported in patients with mito-
chondrial DNA mutations. though patients with Wol-
fram syndrome do not appear to have abnormal mito-
chondrial function or mitochondrial DNA mutations
(BARRETT et al. 2000). The features are diabetes insipi-
dus. diabetes mellitus. optic atrophy and deafness.
Diabetes mellitus is variable in severity and is the first
manifestation in 75% of cases. with mean age of onset
at 6 years. Optic atrophy presents at the end of the
first decade and leads to blindness in many patients.
Diabetes insipidus. deafness and renal problems tend
to present in the second decade. The hearing loss
 50
is bilateral, sensorineural and slowly progressive in
60-80% of patients, leading to moderate to severe
impairment (BARRETT and BUNDEY 1997).
4.8.6
Johanson-Blizzard Syndrome
Johanson-Blizzard syndrome is an autosomal reces-
sive disorder characterised by failure to thrive in
infancy due to exocrine pancreatic insufficiency,
facial dysmorphism with hypoplastic alae nasi and
areas of aplasia cutis congenita of the scalp with
unusual spiky hair that is difficult to comb. Hypothy-
roidism is common but does not correlate with learn-
ing difficulties, which are usually present, though
often mild. Bilateral severe to profound hearing
loss due to Mondini-type malformation has been
reported in about 65% of patients. A CT scan study
in two children revealed bilateral cystic dilatation of
the cochlea and the vestibulum (BRAUN et al. 1991).
4.8.7
Kallmann Syndrome
Kallmann syndrome consists of hypogonadotrophic
hypogonadism and anosmia. Sensorineural deafness
occurs in 20-30% of patients. The hearing loss is
usually mild, bilateral and sensorineural, and abnor-
mal morphology of the semicircular canals and inter-
nal auditory meati has been reported radiologically.
Genetically, autosomal dominant, autosomal recessive
and X-linked recessive inheritance are reported. The
X-linked form maps to Xp22.3 and the gene (KAL) has
a b
A. Fryer
been cloned. Renal agenesis and mirror movements
(bimanual synkinesis) occur in X-linked Kallmann
syndrome but not in the non-X-linked forms.
4.8.8
Perrault Syndrome
This is an autosomal recessive disorder of ovarian
dysgenesis and congenital hearing loss, which is an
almost constant feature in females and may be the
only finding in affected males. Polytomography has
shown no abnormality.
4.9
Syndromes with
Integumentary Involvement
Large numbers of these syndromes are listed by GORLIN
et al. (1995). Only a few will be discussed here.
4.9.1
Waardenburg Syndrome
Waardenburg syndrome is an autosomal dominant
disorder with an estimated incidence of 1 in 40,000.
It is the association of hearing loss with pigmentary
disturbance of the iris (complete or partial hetero-
chromia or hypoplastic blue eyes) and hair, often a
white forelock (Fig. 4.7). Other features can include
hypopigmented areas of skin (though if these are
extensive, piebaldism should be suspected, especially
Fig.4.7a,b. Waardenburg syndrome. a
Baby born with white forelock that has
disappeared. Has depigmented areas of
skin and sensorineural hearing loss.
The dystopia canthorum and synophy-
rys are characteristic of type 1 disease.
Dystopia presents with the appearance
of blepharophimosis and fusion of the
inner eyelids. b Baby with white fore-
lock and normal facies who had
Hirschsprung disease. The parents were
consanguineous - characteristic of
recessive type 4 disease
Syndromes Associated with Hereditary Deafness
if the patient has normal hearing) and premature
greying of the hair. The hearing loss is sensorineural,
congenital and usually non-progressive. It may be
unilateral or bilateral and can vary in degree from
slight to profound, although a profound bilateral
loss is the commonest type encountered (READ and
NEWTON 1997). It is clinically subclassified into four
types. Type 1, with dystopia canthorum and often
synophyrys and medial eyebrow flare, maps to chro-
mosome 2q35 and is due to mutations in the gene
PAX3. Type 2 is without dystopia canthorum and is
genetically heterogeneous, with one form mapping
to chromosome 3p14.1-p12.3 and due to mutations
in the MITF gene. Type 3 (Klein-Waardenburg) is
the association of a type 1 phenotype with upper
limb abnormalities and is again due to PAX3 muta-
tions. Type 4 (Waardenburg-Shah syndrome) is the
association of a type 2 phenotype with Hirschsprung
disease and is autosomal recessive when associated
with EDNRB (13q22) and EDN3 (20q13.2-q13.3)
mutations but autosomal dominant when SOXlO
(22q13) mutations are involved. Central and auto-
nomic nervous system involvement has also been
reported in association with some SOXlO mutations
(TOURAINE et al. 2000).
Hearing loss and pigmentary abnormalities in
these syndromes are generally attributed to a melano-
cyte developmental defect. Most melanocytes derive
from progenitors in the neural crest, which migrate
during development and ultimately settle in a vari-
ety of tissues including the stria vascularis of the
cochlear duct. PAX3, EDN3 and EDNRB may playa
role in the migration of the inner ear melanoblasts
and in the proliferation of their neural crest progeni-
tors; MITF may playa role in the survival of all mela-
nocytes (PETIT 1996).
Radiological investigation of the auditory system
has indicated either a normal temporal bone or dys-
plasia of the lateral semicircular canal associated
with a normal bony cochlea. NEMANSKY and HAGE-
MAN (1975) performed tomography in the Stenvers'
projection in 24 patients. In 12 of the 48 ears exam-
ined deafness was present, but in no case was a mal-
formation identified. The authors stated, however,
that in the literature up to that point, the tomographic
findings of the inner ears of 12 hearing-impaired
patients had been reported and 8 had been noted
to have malformations, especially of the semicircular
canals. More recently, IRIE et al. (1990) reported the
findings in three patients with type 1 Waardenburg
syndrome using CT scanning, and found enlarged
vestibules and absence or shortening of the semi-
circular canals in all three cases. The findings were
51
asymmetrical in all three cases. HIGASHI et al. (1992)
reported absence of the posterior semicircular canal
and poor development of the vestibule in a patient
with type 2 Waardenburg syndrome. Other authors
have failed to identify abnormalities of the semicir-
cular canals on CT scan even in the presence of hear-
ing impairment (SCHWEITZER and CLACK 1984).
4.9.2
Tietz Syndrome
Tietz syndrome of hypopigmentation and deafness
follows autosomal dominant inheritance and has also
been found to be due to mutations in the MITF gene
(SMITH et al. 2000). In contrast to Waardenburg syn-
drome type 2, the deafness in Tietz syndrome is
congenital, profound and completely penetrant, the
pigmentation is not patchy and there is no hetero-
chromia.
4.9.3
LEOPARD Syndrome
LEOPARD syndrome is an acronym for an autosomal
dominant disorder characterised by lentigines, ECG
abnormalities (superior QRS axis of between -60 0
and -120 0 and possibly bundle branch block, abnor-
mal P waves and prolongation of the P-R interval),
ocular hypertelorism, pulmonary stenosis, abnor-
malities of the genitalia, retardation of growth
and deafness. Sensorineural hearing loss has been
reported in about 25% of patients; it is usually mild
but can be severe and congenital.
4.9.4
Deafness,Onycho-osteodystrophy,
Retardation Syndrome
Deafness, onycho-osteodystrophy, retardation (DOOR)
syndrome is an autosomal recessive disorder char-
acterised by absent or severely hypoplastic nails on
all fingers and toes, digital abnormalities including
triphalangeal thumbs and halluces, hypoplastic ter-
minal phalanges of the other digits, mental retar-
dation with seizures from infancy and congenital
profound sensorineural deafness. In some patients,
excess 2-oxoglutarate has been found in the urine.
There are other syndromes listed with onycho-
dystrophy and deafness, including Goodman-Mogh-
adam (which is dominantly inherited and also
52
associated with triphalangeal thumbs but no neuro-
logical problems), Robinson syndrome (with coni-
form teeth; autosomal dominant) and a dominant
syndrome with type B brachydactyly and ectrodac-
tyly.
4.10
Chromosomal Syndromes
Hearing loss has been reported in numerous chromo-
some abnormalities.
4.10.1
Down Syndrome
In trisomy 21 (Down syndrome), a number of stud-
ies have indicated a high prevalence of hearing loss
which may be conductive, sensorineural or mixed.
Middle ear infections are common in these patients,
especially in the pre-school years. Hearing loss may
have other causes, and temporal bone studies have
shown frequent middle ear abnormalities affecting
the ossicles and the surrounding structures and
reduced cochlea length (GORLIN et al. 1995).
4.10.2
Turner Syndrome
Hearing loss has attracted little attention in Turner
syndrome, but recent studies indicate that it is
common in both patients with a 45X karyotype and
those with Turner mosaicism or a structurally abnor-
mal X chromosome. Conductive hearing loss appears
to be present in at least 35% of patients and associ-
ated with frequent middle ear infections in child-
hood. Sensorineural loss may be even more common,
and there could possibly be a specific defect in the
organ of Corti.
4.11
Miscellaneous
4.11.1
Jervell-Lange-Nielsen Syndrome
This is an autosomal recessive disorder of profound
sensorineural deafness associated with syncopal epi-
A. Fryer
sodes caused by ventricular arrhythmias due to a
prolonged QT interval. Mutations have been identi-
fied in one of two potassium channel genes, KvLQT1
or KCNEI. Parents and offspring of these patients are
at increased risk for arrhythmia.
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5 Otitis Media (Acute and Chronic)
D. GRIER

CONTENTS 5.1
Introduction
5.1 Introduction 55
5.2 Incidence 55
The term "otitis media" refers to inflammation of
5.3 Pathology 56
5.4 Treatment 56 the middle ear and its associated air spaces in the
5.5 Complications 57 petrous temporal bone. It may be acute or chronic.
5.6 Role of Imaging 57 Acute otitis media is very common in infants and
5.7 Imaging Techniques 57 young school-age children and is almost always infec-
5.7.1 Computed Tomography 58
tive in origin. The cause is usually primary viral infec-
5.7.2 Magnetic Resonance Imaging 58
5.8 Acute Otitis Media 59
tion, less often bacterial, though the latter may com-
5.8.1 Complications 59 plicate a viral infection. The vast majority of cases of
5.8.1.1 Acute Mastoiditis 59 acute otitis media are diagnosed and managed clini-
5.8.1.2 Coalescent Mastoiditis 60 cally without recourse to imaging. Imaging becomes
5.8.1.3 Subperiosteal and Bezold Abscess 61 important in children with acute otitis media when
5.8.1.4 Acute Labyrinthitis 63
5.8.1.5 Petrous Apicitis 63
complications are suspected.
5.8.2 Intracranial Complications 63 Chronic otitis media has a more insidious presen-
5.8.2.1 Venous Sinus Thrombosis 63 tation with variable conductive hearing loss due to
5.8.2.2 Meningitis 64 progressive interference of ossicular and middle ear
5.8.2.3 Extra-axial Collections 64
function. Imaging is required in some children with
5.8.2.4 Facial Nerve Palsy 66
5.9 Chronic Otitis Media 66 chronic otitis media for confirmation of diagnosis
5.9.1 Introduction 66 and to permit effective operative intervention. There
5.9.2 Complications 66 are many complications of chronic otitis media; the
5.9.2.1 Granulation Tissue 66 underlying aetiology is believed to be eustachian
5.9.2.2 Cholesterol Cyst 67
tube dysfunction. The most common is chronic secre-
5.9.2.3 Secretory Otitis Media 67
5.9.2.4 Cholesteatoma 67 tory otitis media (glue ear), a condition which can be
5.9.2.5 Labyrinthine Fistula 67 managed entirely without recourse to imaging.
5.9.2.6 Facial Nerve Dysfunction 67 The emphasis of this chapter will be on the imag-
5.9.2.7 Tympanic Membrane Retraction 68 ing of acute otitis media and its complications.
5.9.2.8 Post-inflammatory Ossicular Fixation and
Non-cholesteatomatous Ossicular Erosion 68
5.10 Summary 68
References 68
5.2
Incidence

Acute otitis media, as mentioned above, is very

D. GRIER
Consultant Paediatric Radiologist, Department of Paediatric
Radiology, Bristol Royal Hospital for Children, Paul O'Gorman
Building, Upper Maudlin Street, Bristol BS2 8BJ, UK
common in childhood. Estimates of its prevalence
are unreliable, but a recent review suggests that up
to 30% of children will have had at least one episode
by the age of 3 years and that 10% of infants will
have had acute otitis media by the age of 3 months
(O'NEILL 2000). Serious complications of acute otitis
media in children requiring admission or specific
treatment are rare and are probably of the order
56
of 1:2,500 cases (GOLDSTEIN et al. 1998). They are
related to primary bacterial infection or superinfec-
tion rather than to viral infection.
Complications of acute otitis media have declined
significantlysince the introduction ofantibiotics,mainly
due to prevention of simple otitis media and mastoiditis
progressing to coalescent mastoiditis and its potential
complications (intracranial and extracranial).
5.3
Pathology
The eustachian tube and middle ear are lined by
respiratory mucosa and are essentially extensions of
the upper respiratory tract. Inflammation due to bac-
terial or viral infections of the upper respiratory tract
frequently extends into the middle ear cavity and the
mastoid air cells. This causes acute otitis media and
mastoiditis. Increased middle ear pressure and the
accumulation of inflammatory debris lead to pain,
impaired hearing and other symptoms in this con-
dition. Prominent adenoidal soft tissue exacerbates
impaired aeration and drainage of the middle ear via
the eustachian tube.
The commonest bacterial organisms implicated in
acute otitis media are Streptococcus pneumoniae and
Haemophilus injluenzae, both frequent pathogens of
the upper respiratory tract. Together they account
for nearly two-thirds of bacterial acute otitis media
infections. Less frequent pathogens are Staphylococ-
cus aureus and Branhamella or Moraxella catarrha-
lis. Inoculation of the middle ear results in an inflam-
matory exudate and increased middle ear pressure,
leading to bulging of the tympanum, pain and vari-
able deafness. Secondary infection of the middle ear
may occur with a variety of organisms found in the
upper respiratory tract.
In practice all patients with acute otitis media will
have a degree of mastoiditis because of the free com-
munication of the mastoid air cells with the middle
ear. However, the term "mastoiditis" is now generally
taken to mean coalescent disease with bone erosion,
and not just simple mucoperiosteal inflammation.
Glue ear, or chronic secretory otitis media, is
believed to arise as a result of low middle ear pres-
sure due to eustachian tube dysfunction. This leads
to secretion of serous fluid into the middle ear cavity,
which causes impaired ossicular function and vari-
able deafness.
Chronic otitis media in childhood is multifactorial
in origin, but may in part be due to the more hori-
D. Grier
zontal course of the eustachian tube in children, with
consequent accumulation and impaired drainage of
middle ear secretions.
5.4
Treatment
The management of acute otitis media remains con-
troversial. Many consider that, since viral infection
is the commonest cause, symptomatic treatment is
all that is required and the condition is self-limit-
ing. Analgesia is a very important aspect of man-
agement, with paracetamol being commonly admin-
istered. There is some evidence that non-steroidal
analgesia may be of benefit (O'NEILL 2000).
There is evidence that over 80% of episodes
of acute otitis media resolve spontaneously within
3 days (O'NEILL 2000). Despite this, antibiotic ther-
apy is almost universally prescribed, though whether
this influences the course of the condition in most
cases is unknown. In the absence of proof of bac-
terial infection their use has been questioned. How-
ever, their use in individual cases needs to be weighed
against the overall reduction in the incidence of com-
plications of acute otitis media in children since their
introduction. The issue of antibiotic resistance is
also a growing problem. Antibiotics may reduce the
number of children in pain for 2-7 days and may
also reduce the incidence of contralateral disease
(O'NEILL 2000). On the other hand, side effects of
antibiotics may be unpleasant and significant and
include diarrhoea and vomiting.
Analgesia is very important, as pain usually causes
much morbidity. Treatment with paracetamol usu-
ally suffices. Drainage of the middle ear cavity may
occur spontaneously if the tympanic membrane rup-
tures. In uncomplicated acute otitis media, resolu-
tion of symptoms and of middle ear inflammation
should be complete with no sequelae. Imaging may
be required if complications or non-resolution of dis-
ease are suspected, to help plan further management
of the child.
Chronic secretory otitis media may be treated
by insertion of grommet tubes into the tympanic
membrane to normalise pressure in the middle ear
and to improve drainage of secretions (MAW et al.
1999).
The management of chronic otitis media depends
on determining the nature of the underlying com-
plication, by a combination of clinical and cross-sec-
tional imaging. Treatment is usually surgical.
Otitis Media (Acute and Chronic)
5.5
Complications
Complications of acute otItIs media are given in
Table 5.1. They are rare, are generally acute and relate
to aggressive or untreated disease. Their incidence has
decreased since the introduction of antibiotics. Com-
plications are characterised by the spread of infection
outside the middle ear cavity, throughout the petrous
bone and beyond, into the cranium or the soft tissues of
the neck. Prompt diagnosis and treatment is required;
the latter usually involves surgical drainage in addition
to antibiotic therapy and the outcome is excellent.
Table 5.1. Complications of acute otitis media
Acute mastoiditis (almost invariably present)
Coalescent mastoiditis
Petrous apicitis
Subperiosteal abscess
Bezold abscess
Epidural abscess
Subdural abscess
Meningitis
Dural venous sinus thrombosis
Cerebral!cerebellar abscess
Complications of acute otItIS media requIrIng
admission to hospital and specific therapy probably
occur in less than 1:2,500 patients (GOLDSTEIN et al.
1998). Those confined to the temporal bone alone are
three to four times more common than intracranial
complications, though the latter usually coexist with
temporal bone changes.
Intracranial complications are severe and may
be life-threatening. They include dural venous sinus
thrombosis, subdural empyema, epidural abscess and
cerebellar and temporal lobe abscess. Children with
these complications are usually very unwell; clinical
findings include spiking fevers, meningeal signs,altered
mental state and cranial nerve palsies (especially the
facial nerve). Complications may present with no clear
antecedent history of otitis media, the cause only being
detected during management of the complication.
Clinical findings of complicated acute otitis media
may be suggestive, but laboratory tests such as white
cell count, erythrocyte sedimentation rate and other
parameters are variably abnormal and are not gen-
erally helpful for diagnosis or in planning therapy.
Children may display little in the way of systemic
signs of illness and may be afebrile (NADEL et al.
1990) even in the presence of severe sepsis and
abscess formation. Pain is variable and may be absent,
particularly in the presence of a mastoid abscess.
57
Complications of chronic otitis media (Table 5.2)
are more protracted and typically result in degrees of
conductive hearing loss. Progression may be halted
by prompt diagnosis and treatment, which is largely
based upon accurate cross-sectional imaging.
The main complication of chronic secretory otitis
media (glue ear) is variable deafness in the affected
ear, which may be ameliorated by the insertion of
grommets (MAW et al. 1999).
Table 5.2. Complications of chronic otitis media
Giant cholesterol cyst
Granulation tissue
Cholesteatoma
Labyrinthine fistula
Facial nerve palsy
Ossicular fixation and erosion
Tympanic membrane retraction
Chronic secretory otitis media
5.6
Role of Imaging
Imaging is not required in the majority of children
with acute otitis media as the cases are diagnosed clini-
cally, confirmed otoscopically and resolve either spon-
taneously or after antibiotic therapy. Imaging only
becomes important if symptoms fail to resolve, if
complications are suspected or if there are recurrent
episodes suggesting the possibility of an underlying
cause. In principle imaging should be employed only if
it is likely to result in a change in patient management.
This is especially true of computed tomography (CT)
because of its high radiation dose, particularly to
the eye. Another important consideration in children
is that cross-sectional imaging in children, whether
CT or magnetic resonance imaging (MRI), frequently
requires sedation or anaesthesia if it is to be performed
satisfactorily. A request for imaging studies must be
based on a clear idea of the value of the imaging and
with a particular clinical question to answer.
Imaging has a greater role to play in the manage-
ment of chronic otitis media and its complications.
5.7
Imaging Techniques
Imaging may be performed using plain radiographs,
conventional pluridirectional tomography, CT and
58 D. Grier

MRI. In practice plain radiographs are generally

unhelpful in the management of otitis media in chil-
dren. Good-quality views may be difficult to obtain
in young children, pneumatisation of the middle ear
and mastoid air cells may be poorly developed and
variable and overlying bone structures obscure much
detail. The use of conventional tomography is now
of historic interest, having been replaced by the
increased resolution and speed of CT.

5.7.1
Computed Tomography Fig. 5.2. Extensive pneumatisation of the temporal bone
extending from the posterior aspect of the temporal bone to
Thin-section (l-2mm) imaging in the axial plane the petrous apex
performed with a high-resolution (bone) algorithm
provides excellent detail of the structures of the
petrous temporal bone (middle ear, ossicles, inner
ear, petrous apex and mastoid air cells) (Figs. 5.1-5.4).
It may be supplemented by coronal reconstructions
or direct coronal images if reconstructions are
inadequate. It also permits evaluation of the intra-
cranial structures when complications are suspected,
although slice thickness and reconstruction algo-
rithm will need adjusting. Images should be reviewed
on bone and soft tissue windows so as to maximise
the detection of small soft tissue masses and subtle
bone destruction. In practice CT is the most useful Fig. 5.3. Extensive pneumatisation of the temporal bone
technique in children for the evaluation of the com- extending into the base of the zygomatic process
plications of acute otitis media and for management
of chronic otitis media. Sedation or anaesthesia may
be required for young or ill children.
Intravenous contrast medium is required for the
evaluation of acute otitis media if extension of inflam-
mation outside the temporal bone is suspected. A
dose of 1 ml kg- 1 is generally sufficient.

Fig. 5.4. Extensive pneumatisation of the temporal bone with

congenital defects in both the inner and outer mastoid cortex
on the left

5.7.2
Magnetic Resonance Imaging

MRI allows optimal imaging of the intracranial struc-

Fig. 5.1. Normal anatomy of the temporal bone, showing aera-
tion of the middle ear and mastoid air cells. The communica-
tion between the middle ear and the mastoid air cells is clearly
seen
tures, including the dural venous sinuses, and pro-
vides better soft tissue detail than CT, particularly in
the posterior fossa. Because cortical bone returns a
Otitis Media (Acute and Chronic) 59

signal void on all MRI pulse sequences, and because of the ear in infants, irritability, anorexia and vomit-
MRI has a lower spatial resolution than CT, the former ing (GOLDSTEIN et al. 1998). Sometimes there are no
is less able than the latter to delineate the anatomy particular localising signs. Discharge of inflamma-
and structure of the mastoid air cells and ossicles or tory debris from the ear following tympanic mem-
allow estimation of bone erosion or destruction. In brane perforation may occur.
fact, most of the temporal bone appears as a signal The vast majority of children with acute otitis
void. However, MRI is very sensitive for the detection media either improve spontaneously or get better
of inflammation in the middle ear, mastoid air cells with antibiotic therapy. Imaging is required only
and elsewhere. Unfortunately MRI has poor specific- in the minority who do not respond to therapy or
ity, and high signal (mucosal thickening and inflam- in whom a complication is suspected. CT remains
matory fluid) may be detected incidentally in the the most useful first imaging investigation (Fig. 5.5)
middle ear and mastoid air cells in children with no (MAFEE et al. 1985), though this may be supple-
relevant symptoms (poor specificity). mented with MRI in selected cases.
MRI has a complementary role to CT in the man-
agement of inflammation in the middle ear and
its complications. It has the advantage that it does
not employ ionising radiation and images can be
obtained in any plane without moving the patient.
Like CT, the use of MRI in young children may require
sedation or anaesthesia.
For both CT and MRI, intravenous contrast
medium is helpful in identifying and delineating
complications of otitis media, particularly those that
extend into the cranial cavity and those that involve
the dural venous sinuses and the soft tissues of the
neck. The advantages and disadvantages of CT and
Fig. 5.5. Simple acute otitis media and mastoiditis. There is
MRI are listed in Table 5.3. fluid in the left middle ear, mastoid air cells and the external
auditory canal
Table 5.3. Advantages and disadvantages of CT and MRI in
otitis media
CT MRI

Advantages
5.8.1
Fine bone detail
Complications
(ossicles, trabeculae) Excellent contrast resolution
Excellent spatial resolution Sensitive for inflammation
5.8.7.7
Good for intracranial! Excellent for intracranial! Acute Mastoiditis
neck anatomy neck anatomy
Widespread availability No ionising radiation Acute mastoiditis occurs by direct extension of
Disadvantages inflammatory material from the middle ear cavity
Large radiation dose Long scan time into the mastoid air cells. The extent of disease is
Need for anaesthesia/ Need for anaesthesia/
limited by the degree of pneumatisation of the mas-
sedation sedation toid air cells, which varies enormously between chil-
dren, and by the virulence of the infecting organism.
Poor bone detail
Inflammation is limited to the mucosa and perios-
teum lining the cavities of the temporal bone (i.e. it
is mucoperiosteal, not involving the bone itself) and
5.8 probably occurs to a greater or lesser extent in all
Acute Otitis Media cases of acute otitis media. There may be a history
of recurrent otitis media.
The term "acute otitis media" refers simply to inflam- Symptoms and clinical findings include otalgia,
mation of the middle ear space. Onset is usually postauricular pain, fever, mastoid tenderness and
rapid. Typical symptoms include fever, pain, tugging minimal overlying soft tissue swelling. They there-
60
fore overlap with those of uncomplicated acute otitis
media, with which this complication coexists. Symp-
toms are generally acute and of the order of several
days' duration (GOLDSTEIN et al. 1998).
Plain radiographs are not indicated. If obtained
they may show opacification of the mastoid air cells,
though this will only be evident if the latter were
pneumatised in the first place. Sclerosis of the mas-
toid bone may suggest chronic inflammatory disease.
Cavities and bone erosion are much less likely to be
demonstrated than on CT. Comparison with the con-
tralateral side may help. In uncomplicated acute mas-
toiditis plain radiographs add little and rarely lead to
a change of management.
CT will more clearly demonstrate inflammatory
fluid and debris in the middle ear cavity and mas-
toid air cells (Fig. 5.6). This is present to a variable
extent in all affected patients, and air-fluid levels may
be present (GOLDSTEIN et al. 1998). There is no evi-
dence of destruction or erosion of the ossicles or of
the bone septa between air cells in otherwise uncom-
plicated acute mastoiditis. However, CT is not indi-
cated unless a complication or non-resolution is
suspected, in view of the large burden of ionising
radiation it incurs and the possible need for sedation
or anaesthesia.
Similar findings will be demonstrated by MRI,
with inflammatory fluid and debris producing high
signal on T2-weighted spin-echo sequences. The bone
trabeculae of the mastoid air cells and the middle ear
ossicles will not be shown, making evaluation of bone
destruction impossible. Up to half of affected chil-
dren will show changes in the contralateral middle
ear and mastoid air cells (GOLDSTEIN et al. 1998).
The imaging findings in acute otitis media and acute
mastoiditis overlap and cannot be used to differenti-
ate these conditions.
Fig. 5.6. Acute otitis media and mastoiditis. Fluid replaces air
in the right middle ear and mastoid air cells
D. Grier
Treatment is primarily antibiotic, though drain-
age of the middle ear cavity by myringotomy may be
required (GOLDSTEIN et al. 1998). More formal mas-
toidectomy is more likely to be required for compli-
cations discussed below.
5.8.1.2
Coalescent Mastoiditis
Acute mastoiditis may progress to involve destruc-
tion of the bone trabeculae of the mastoid air cells,
a condition termed "coalescent mastoiditis". This
occurs in approximately 25% of cases. Bone loss may
arise indirectly because of hyperaemia and resorp-
tion or directly by erosion in an analogous manner
to osteomyelitis. Both imply aggressive disease, and
coalescence has been considered analogous to the
formation of an intramastoid empyema (SWARTZ et
al. 1998). Inflammatory debris may block the com-
munication between the mastoid air cells and the
middle ear cavity at the aditus ad antrum, and so
prevent drainage of the mastoid air cells through
the eustachian tube. The more pneumatised the mas-
toid air cells are, the more rapidly inflammation can
spread and the quicker an abscess can form (HOLT
and YOUNG 1981).
Clinical evaluation may be difficult as the tym-
panic membrane may only appear otoscopically
abnormal in one-third of patients or it may be
obscured (SPIEGEL et al. 1998). Postauricular swell-
ing, erythema, tenderness and protrusion of the
auricle are the most constant clinical findings
(GOLDSTEIN et al. 1998).
CT will demonstrate variable fluid in the middle
ear and mastoid air cells as in uncomplicated acute
mastoiditis. Superimposed upon this will be thin-
ning and erosion of the mastoid bone septa with
the development of a cavity (Figs. 5.7-5.9). The
findings are often subtle, and abnormalities may
be more easily identified by comparison with the
other side.
The detection of bone erosion is almost impossi-
ble with MRI as there is normally a signal void from
the thin mastoid septa, which may be "lost" against
the background of increased signal from inflam-
matory material in the mastoid air cells. However,
MRI will clearly demonstrate the extent of inflamma-
tory disease on images with T2 weighting, or on Tl-
weighted images after intravenous contrast medium.
Coalescent mastoiditis is an indication for surgi-
cal drainage of the mastoid cavity. If inadequately
treated, it may progress to erosion of the outer or
inner mastoid plates. This may in turn lead to sub-
Otitis Media (Acute and Chronic)
Fig.5.7. Early coalescent mastoiditis. There is fluid in both
mastoid air cells, with early rarefaction of the bone trabeculae
on the left
Fig. 5.9. Coalescent mastoiditis. There is fluid in the left middle
ear and mastoid cells with destruction of the bone trabeculae
of the latter, forming a small cavity
cutaneous or intracranial complications, depending
upon which direction offers the least resistance to the
spread of infection.
5.8.1.3
Subperiosteal and Bezold Abscess
Extension of infection outside of the mastoid air cells
into the soft tissues of the neck may happen at the
time of acute infection but may become apparent
clinically several weeks or sometimes months later, so
that cause and effect may not be immediately appar-
ent (SPIEGEL et al. 1998). This was initially noted
by BEZOLD (1908) in his original description and is
still true today. Low-grade infection, partial antibi-
otic treatment, failure to recognise the possibility of
such complication or misinterpretation of the clinical
signs may be responsible for these delays.
61
Fig. 5.8. Coalescent mastoiditis. There is fluid in the left mas-
toid air cells, with destruction of some of the bone trabecu-
lae
Erosion of the outer cortex of the mastoid air cells
leads directly to a subperiosteal abscess. In children
such abscesses occur most commonly subcutaneously
(i.e. superficially) in the postauricular region where
the temporal bone is thinnest. If an abscess occurs
at the tip of the mastoid process (or on its medial
aspect), pus is prevented from reaching the skin
because of muscle insertions and fascial planes and
may then extend inferiorly a variable distance into the
deep soft tissues of the neck. Pus may track along the
sternomastoid or the digastric muscles. In this con-
text it is termed a Bezold abscess. In extreme cases
pus may pass inferiorly into the mediastinum. There
is direct continuity between both the intramastoid
and soft tissue collections. Collections may rarely
extend anteriorly under the temporalis muscle (Luc
abscess) or into the base of the zygomatic process of
the temporal bone if this is pneumatised (MAFEE et
al. 1985; SPIEGEL et al. 1998). Subperiosteal abscesses
are anecdotally reported to be more common in chil-
dren with poorly pneumatised mastoids, the rationale
being that infection has nowhere to spread except into
the adjacent soft tissues. They may also develop even
though the original acute otitis media has resolved if
the drainage of the mastoid air cells is impaired - so-
called masked mastoiditis.
Clinical examination may demonstrate soft tissue
swelling and tenderness overlying the mastoid tip,
extending inferiorly. This is much more marked than
that seen in otherwise uncomplicated coalescent mas-
toiditis. Imaging with CT shows typical changes of
coalescent mastoiditis with superadded erosion of
the outer mastoid cortex. A subperiosteal fluid collec-
tion will be identified at the level of the defect, with
variable enhancement of its margins if intravenous
contrast medium is used (Figs. 5.10,5.11). This rep-
 62 D. Grier

b c
Fig. 5.IOa-c. Coalescent mastoiditis with external cortical erosion and subperiosteal abscess. a There is destruction of mastoid
septa on the right with a very clear zone of erosion of the external mastoid cortex. Moderate overlying soft tissue swelling
is noted. b A sagittal oblique reconstruction shows the mastoid septal destruction, cortical erosion and overlying soft tissue
swelling. c There is a well-defined soft tissue mass overlying the right temporal bone. It has an enhancing rim with material
of low attenuation within it - a subperiosteal abscess

a b
Fig.5.11a,b. Coalescent mastoiditis with large mastoid cavity, external cortical destruction and subperiosteal abscess. a Soft
tissue window shows the enhancing margin of the subperiosteal abscess and its continuity with the mastoid cavity. b Bone
window demonstrates more clearly the degree of bone destruction. There is also some ossicular erosion. (a, b Courtesy of Dr.
K. Bradshaw)
Otitis Media (Acute and Chronic)
resents inflamed periosteum. MRI shows similar fea-
tures though the cortical defect may not be appar-
ent. The extent and location of the collection will
be better demonstrated by MRI because of its supe-
rior contrast resolution and its multiplanar capabil-
ity. Surgical treatment is directed at draining both
the intramastoid and the external components of the
abscess.
5.8.7.4
Acute Labyrinthitis
Spread of inflammation through the round or oval
window will lead to acute labyrinthitis. This uncom-
mon complication is apparent clinically with hearing
loss, tinnitus and vertigo, otalgia, vertigo or dizzi-
ness, nausea and vomiting (GOLDSTEIN et al. 1998).
Labyrinthitis may be serous or suppurative, the latter
being much more serious, having the potential for
spread of infection direct to the subarachnoid space
and development of meningitis.
CT may show no labyrinthine abnormality, even
with intravenous contrast medium enhancement,
though associated inflammatory disease will be iden-
tified in the middle ear and mastoid (GOLDSTEIN et
al. 1998).
Unenhanced MRI will delineate inflammatory
middle ear and mastoid disease but show no abnor-
mality in the labyrinth. Mural enhancement of the
bony labyrinth has been reported with contrast-
enhanced MRI on Tl-weighted images (GOLDSTEIN
et al. 1998; SWARTZ et al. 1998).
Treatment involves antibiotic therapy and drain-
age of the middle ear and mastoid cavities. Cochle-
otomy may be required if suppurative labyrinthitis is
present or if there is no initial response to therapy.
5.8.7.5
Petrous Apicitis
Extension of infection into the petrous apex results
in petrous apicitis. In theory this should only occur
in children in whom pneumatisation of the mastoids
extends to the petrous apex. In practice, abscesses
in the petrous apex may also occur in the absence
of such extensive pneumatisation, presumably via
direct bone destruction. Direct extension of bone
destruction from coalescent mastoiditis or indirect
spread via thrombophlebitis may be responsible.
Petrous apicitis is rare. The classical clinical findings
of petrous apicitis are otitis media, abducens nerve
palsy and pain in the distribution of the trigeminal
nerve (Gradenigo syndrome). However this combina-
63
tion of findings is uncommon, and more often symp-
toms are non-specific. Retrobulbar pain and diplo-
pia may be present. Inflammation may extend to the
adjacent cavernous sinus.
CT will demonstrate variable bone destruction
with cavity formation in the medial aspect of the
petrous temporal bone, together with evidence of
inflammation in the middle ear and mastoid air cells
(GOLDSTEIN et al. 1998). Air-fluid levels may be pres-
ent. Bone destruction will be more easily identified
by CT than MRI for the reasons discussed previously.
Contrast enhancement of the adjacent meninges may
be identified (SWARTZ et al. 1998).
MRI will demonstrate similar inflammatorychanges,
including cavity formation, in the petrous apex. There
may be variable local enhancement of the meninges
with intravenous contrast medium. Intracranial exten-
sion may occur if the internal cortex is breached. This
may be identified with either CT or MRI.
Treatment involves antibiotics and decompression
of the mastoid and petrous temporal bone.
5.8.2
Intracranial Complications
Intracranial complications of acute otitis media are
given in Table 5.1. They are rare and much less
common than temporal bone complications (GOLD-
STEIN et al.1998). They are serious and have high mor-
bidity, and require prompt diagnosis and treatment
for optimal outcome. Patients with these complica-
tions are very ill and have altered levels of conscious-
ness, variable neurological signs and papilloedema.
Infection may spread intracranially by erosion or
destruction of the internal mastoid cortex or petrous
apex. Alternatively, retrograde spread of infection may
occur by thrombosis and infection of communicating
veins bridging the internal mastoid cortex.
Cross-sectional imaging is required for the confir-
mation of suspected intracranial disease complicat-
ing acute otitis media. CT will demonstrate temporal
bone destruction, though MRI is more sensitive for
the evaluation of the posterior cranial fossa, includ-
ing the dural venous sinuses. Whichever modality is
used, images should be obtained before and after the
administration of intravenous contrast medium.
5.8.2.7
Venous Sinus Thrombosis
Dural venous sinus thrombosis is an uncommon but
very serious complication of acute otitis media. It is
64
probably under-recognised. It usually arises in the
lateral or sigmoid sinuses, which are contiguous with
the internal mastoid cortex and the petrous tempo-
ral bone. Affected children are usually very unwell
and may present with headache, fever, vomiting
and altered consciousness. Neck stiffness, aural dis-
charge, meningeal signs, mastoid tenderness and
papilloedema may be evident on clinical examination
(KAPLAN et al. 1999). These findings are non-specific
and overlap those of other intracranial complications
of acute otitis media for which brain imaging is indi-
cated.
The pathological process involves extension of
infection through the internal mastoid cortex, lead-
ing to inflammation and fluid around the venous
sinuses. Inflammation of the vessel wall causes depo-
sition of fibrin and platelets on the intima and the
development of thrombus, which may be partially
or completely occlusive (SWARTZ and HARNSBERGER
1998).
Thrombus may be infected or sterile and may
extend retrogradely into the sagittal sinus, distally
into the internal jugular vein or into the cavernous
sinus via the petrosal sinuses. Extensive thrombus
may lead to cerebral infarction and haemorrhage.
Intracranial hypertension may develop because of
impaired reabsorption of cerebrospinal fluid. A high
index of suspicion is required when evaluating CT or
MR images so as not to overlook venous thrombosis.
Thrombus may coexist with other intracranial com-
plications (KAPLAN et al. 1999).
On unenhanced CT images thrombus may be
identified by its increased attenuation in the affected
sinus lumen. With intravenous contrast enhancement
thrombus may be outlined by peripheral luminal
enhancement and enhancement of the affected vessel
wall (delta sign) (Fig. 5.12a). Beam hardening arte-
facts and the axial plane of the transverse sinuses
may make it difficult to identify small non-occlusive
thrombus.
MRI is probably more sensitive than CT for the
detection of venous sinus thrombosis. The appear-
ance depends on the age of the thrombus, the pulse
sequence used and the scanner employed. In general,
acute thrombus may be very difficult to detect on all
conventional spin-echo sequences. There may be loss
of the normal flow void within the sinus lumen,
but this may occur with slow-flowing blood as
well as thrombus. Magnetic resonance venography
(Fig. 5.12c) may show absent or reduced flow in the
affected sinus. However, there is enormous variation
in the size and relative flow in the transverse and
lateral sinuses in normal individuals, which may
D. Grier
make scans difficult to interpret. High-signal inten-
sity within the vessel lumen on Tl-weighted images
is very suggestive of subacute thrombus (SWARTZ and
HARNSBERGER 1998). There may be enhancement of
vessel wall following intravenous gadolinium admin-
istration - the MR delta sign (IRVING et al. 1991)
(Fig. 5.12b).
Treatment of venous sinus thrombosis involves
dealing with the underlying inflammatory process in
the temporal bone (antibiotics and surgical drain-
age). Direct removal of thrombus from the venous
sinus has been advocated, as has ligation of the inter-
nal jugular vein if thrombus extends into it (Fig. 5.13)
(KAPLAN et al. 1999). Anticoagulants may be used to
prevent propagation and embolism of thrombus.
5.8.2.2
Meningitis
Intracranial spread of infection may lead to local
inflammation of the meninges. This may be aseptic
or pyogenic and may become generalised, and is
one of the more common intracranial complications
of acute otitis media (SWARTZ and HARNSBERGER
1998). A different spectrum of organisms is respon-
sible, which includes Proteus and Pseudomonas spp.,
staphylococci and anaerobes.
Clinical findings that suggest meningeal inflam-
mation include headache, neck stiffness and photo-
phobia. CT and MRI may demonstrate the associ-
ated changes of infection in the temporal bone. There
may be focal or generalised meningeal enhancement
with intravenous contrast medium, and small subdu-
ral effusions may be present. However, imaging find-
ings may be normal even in the presence of con-
firmed meningitis.
Diffuse meningeal inflammation is an uncommon
complication of acute otitis media. Clinical findings
are those of acute meningitis. CT or MRI may demon-
strate diffuse enhancement of the meninges, together
with any associated parenchymal or extra-axial com-
plication.
Similarly, cerebellar and temporal lobe abscesses
are important but uncommon complications of acute
otitis media. Both may be identified by contrast-
enhanced CT or MR imaging.
5.8.2.3
Extra-axial Collections
Extra-axial collections arise in the subdural and
extradural spaces and develop following direct exten-
sion of temporal bone inflammation through its
Otitis Media (Acute and Chronic) 65

Fig.5.12a-c. Dural venous sinus thrombosis. a CT demon-

strates central non-enhancement of the left sigmoid sinus,
with some peripheral enhancement present. There is soft
tissue swelling overlying the temporal bone left. b MRI (Tl
spin-echo with i.v. gadolinium enhancement) shows a signal
void in the left sigmoid sinus. There are inflammatory changes
in the overlying soft tissues of the skull left. c Magnetic reso-
nance venography shows normal flow in the sagittal and right
transverse and sigmoid sinuses, but absent flow on the left.
(a-c Courtesy of Dr. S. Renowden)

Fig.5.13. Extension of dural venous thrombus into the left

internal jugular vein (different patient to Fig. 5.12). CT shows
faint peripheral enhancement of the left internal jugular vein,
the lumen of which contains thrombus. (Courtesy of Dr. K.
Bradshaw)
66
inner cortex. The unossified petrosquamous suture
may also allow direct communication between the
middle ear cavity and the middle cranial fossa.
Extra-axial fluid collections will be identified by
CT and MRI, though the latter is more sensitive,
particularly in the posterior fossa. Differentiation of
sterile from infected collections is not possible on the
basis of imaging alone as both may show a variable
degree of peripheral enhancement with intravenous
contrast medium. Correlation of imaging with clini-
cal and laboratory findings is required to determine
need for drainage.
Subdural collections are typically crescentic and
will not cross the midline, whereas extradural collec-
tions are more likely to be biconvex and may cross
the midline. Absolute differentiation of one from the
other may not be possible, but makes little difference
to patient management.
Extradural collections are less common than sub-
dural collections, but are more likely to be infective
(BIZAKIS et al. 1998) and may be clinically silent,
being detected only when imaging is being performed
to evaluate the temporal bone for other reasons.
5.8.2.4
Facial Nerve Palsy
Palsy of the facial nerve may complicate acute otitis
media and mastoiditis and may be complete or
incomplete, the latter having the greater potential for
recovery. The cause is believed to be raised pressure
in the facial canal in the temporal bone, probably due
to sympathetic oedema of the nerve and surround-
ing tissues. Treatment is decompression of the mas-
toid and middle ear with concomitant antibiotic ther-
apy. Decompression of the facial nerve canal may be
required, but probably benefits only a minority of
patients whose symptoms persist despite maximum
therapy (GOLDSTEIN et al. 1998). Imaging has little
role in the diagnosis and management of this condi-
tion.
5.9
Chronic Otitis Media
5.9.1
Introduction
Chronic otitis media is primarily a disease of eusta-
chian tube dysfunction (PAPARELLA 1980; HOLLIDAY
and REEDE 1989; SWARTZ et al. 1998), though acute
D. Grier
inflammation may complicate it. There is imbalance
of pressure across the tympanic membrane and inad-
equate drainage of secretions via the eustachian tube,
resulting in low intramastoid pressure. Obstruction
of drainage of the eustachian tube by enlarged ade-
noids contributes to the problem and is associated
with bacterial colonisation and superinfection with
Pseudomonas and Staphylococcus spp. (O'DONOGHUE
et al. 1987, LEIGHTON et al. 1993). The result is
the accumulation of inflammatory debris within the
middle ear and mastoid air cells, which can give rise
to a number of pathological conditions (Table 5.2).
These are discussed below, with the exception of cho-
lesteatoma, which is reviewed in Chap. 6 and not
addressed in depth here.
The presentation of chronic otitis media is typi-
cally with variable conductive hearing loss and aural
discharge.
5.9.2
Complications
5.9.2.1
Granulation Tissue
Granulation tissue constitutes a foreign body
response to blood and inflammatory debris within
the middle ear cavity (MARTIN et al.1990). It is prob-
ably the commonest manifestation of chronic otitis
media. It may be isolated, but often accompanies
other complications of chronic otitis media such as
cholesteatoma. Granulation tissue may be "normal"
or cholesterol-rich, the latter having a tendency to
bleed. The clinical appearance is variable, from a non-
vascular fibrous mass to a hypervascular mass which
may simulate a vascular tumour.
CT demonstrates a variable amount of non-spe-
cific soft tissue within the middle ear which is typi-
cally non-dependent (SWARTZ et al.1983). There is no
evidence of bone or ossicular destruction when the
granulation tissue is confined to the middle ear or
mastoid air cells (in contrast to giant cholesterol cyst
at the petrous apex). Fluid levels may be present. The
two kinds of granulation tissue cannot be differen-
tiated from one another on CT, nor from a choleste-
atoma in the absence of bone or ossicular destruc-
tion (SWARTZ et al. 1983), though the presence of
a retracted tympanic membrane is suggestive of
normal granulation tissue and a bulging membrane
supportive evidence for cholesterol granulation tissue
(MAFEE et al. 1986). The use of intravenous contrast
medium is not helpful in this context.
Otitis Media (Acute and Chronic)
MRI may permit differentiation of normal from
cholesterol granulation tissue (SWARTZ and HARNS-
BERGER 1998). Normal granulation tissue is of low
to intermediate signal on Tl-weighted spin-echo
sequences and enhances intensely with intravenous
contrast medium because of its vascularity (MARTIN
et al. 1990). Cholesterol-rich granulation tissue is of
increased signal intensityon unenhanced TI-weighted
images because of its fat content, and will not show
such marked enhancement. Absolute differentiation
of normal granulation tissue from cholesteatoma is
only possible if bone or ossicular erosion or destruc-
tion is seen, which make cholesteatoma more likely.
5.9.2.2
Cholesterol Cyst
A giant cholesterol cyst is a rare complication of
chronic otitis media and has the same histological
appearance as cholesterol granulation tissue, but
characteristically arises in the petrous apex rather
than in the middle ear cavity or mastoid air cells. In
fact, the middle ear and mastoid air cells may appear
normal in this condition. If they do become involved,
however, even in the absence of clinical findings,
cranial nerve dysfunction may occur (SWARTZ and
HARNSBERGER 1998).
Cross-sectional imaging with CT or MRI typically
demonstrates a well-defined expansile entity in the
petrous apex (SWARTZ et al.I998). There maybe con-
siderable bone erosion, which may threaten the carotid
canal and the cavernous sinus (LATACK et al. 1985).
It is usually of increased signal intensity on all spin-
echo pulse sequences at MRI because it contains fluid,
cholesterol and breakdown products of blood. The
appearances of a cholesterol cyst are identical on both
CT and MRI to those of a cholesterol granuloma aris-
ing elsewhere in the temporal bone, and it is probably
false to consider these cysts as separate entities. A giant
cholesterol cyst forms part of the differential diagno-
sis of lesions at the petrous apex, which includes epi-
dermoid and arachnoid cysts and mucocoeles.
5.9.2.3
Secretory Otitis Media
"Glue ear" refers to a form of chronic secretory otitis
media in young children which interferes with ossic-
ular conduction of sound and causes variable hear-
ing loss. There mayor may not be a prior history of
acute otitis media. Reduced pressure in the middle
ear cavity because of eustachian tube dysfunction
leads to a serous exudate which interferes with ossic-
67
ular function and leads to variable conductive deaf-
ness (PAPARELLA 1980). Adenoidal hypertrophy may
further compromise middle ear drainage and lead to
colonisation with bacteria. Superadded episodes of
acute infection may also occur.
The diagnosis is made clinically and imaging is
not required for therapy. If performed, both CT and
MRI will show a variable amount of fluid in the
middle ear cavity with extension into the mastoid
air cells. Air-fluid levels may be present. The appear-
ances will be identical to those seen in acute otitis
media and so are completely non-specific.
Treatment includes myringotomy to equalise pres-
sure across the tympanic membrane and so abolish
the stimulus to further fluid accumulation. Myringot-
omy is conventionally achieved by the placement of
metal or plastic grommet tubes in the tympanic mem-
brane, which have a characteristic appearance on CT.
5.9.2.4
Cholesteatoma
A full description of the imaging appearances of cho-
lesteatomas is given elsewhere (Chap. 6) and is not
within the remit of this chapter. Diagnosis is usu-
ally clinical and may be confirmed by CT when the
characteristic combination of a soft tissue mass with
ossicular and bone destruction are identified. Bone
destruction may be extensive. However, rarely ossicu-
lar destruction may occur with non-cholesteatoma-
tous inflammatory changes found in chronic otitis
media, and so these findings alone are not specific.
5.9.2.5
Labyrinthine Fistula
Episodic vertigo associated with chronic otitis media
suggests the possibility of a labyrinthine fistula. A
labyrinthine fistula may occur as a complication of
acute otitis media (associated with serous or suppu-
rative labyrinthitis), but is also a recognised compli-
cation of chronic otitis media, particularly in asso-
ciation with a cholesteatoma. The commonest site
is in relation to a lateral semicircular canal, though
occasionally the cochlea may be involved.
5.9.2.6
Facial Nerve Dysfunction
Facial nerve dysfunction may occur as a complica-
tion of acute otitis media, probably due to a direct
inflammatory effect on the nerve in the facial canal.
This in turn causes swelling and nerve compression.
68
It may also develop in children with chronic otitis
media, especially if there is an associated cholestea-
toma and extension into the facial canal. Atrophy
of the nerve may develop if the underlying cause is
untreated (TELISCHI et al. 1995).
5.9.2.7
Tympanic Membrane Retraction
The diagnosis of tympanic membrane retraction is
made by otoscopic examination and imaging is not
usually required. Retraction in the region of the attic
(pars flaccida) may be associated with a cholesteatoma,
in which case CT may be useful for confirming or
refuting this association. The more common pars tensa
retractions may be associated with ossicular erosion.
CT is the best imaging modality when associated
pathology in the middle ear is thought likely. Retrac-
tion is visible on CT images, which may also demon-
strate thickening of the tympanic membrane. Tym-
panic membrane retraction may be so severe as to
completely obliterate the middle ear cavity.
5.9.2.8
Post-inflammatory Ossicular Fixation and Non-cho-
lesteatomatous Ossicular Erosion
A non-specific sequela of chronic middle ear inflam-
mation is fixation of the ossicles, leading to conduc-
tive deafness. This most commonly occurs in the
region of the attic or oval window. Erosion of the
ossicles may also occur for the same reason, most
frequently affecting the distal incus.
5.10
Summary
Imaging is able to provide valuable information
about the presence, nature and extent of abnormali-
ties related to acute and chronic otitis media. CT is
the most useful modality for the initial evaluation of
the temporal bone, but MRI provides clearer detail of
intracranial and soft tissue complications.
References
Bezold F, Siebenmann F (1908) Lecture XIX: Empyaema of
the mastoid process in acute inflammation of the middle
D. Grier
ear. Textbook of otology for physicians and students. Cole-
grove, Chicago, pp 179-188
Bizakis JG, Velegrakis GA, Papadakis CE, et al (1998) The silent
epidural abscess as a complication of acute otitis media in
children. Int J Pediatr OtorhinolaryngoI45:163-166
Goldstein NA, Casselbrant ML, Bluestone CD, et al (1998)
Intratemporal complications of acute otitis media in infants
and children. Otolaryngol Head Neck Surg 119:444-454
Holliday RA, Reede DL (1989) MRI of mastoid and middle ear
disease. Radiol Clin North Am 27: 283-299
Holt GR, Young WC (1981) Acute coalescent mastoiditis. Oto-
laryngol Head Neck Surg 89:317-321
Irving RM, Jones NS, Hall-Craggs MA, et al (1991) Imaging of
the lateral sinus. J Laryngol Otol 105:693-695
Kaplan DM, Kraus M, Puterman M, et al (1999) Otogenic lat-
eral sinus thrombosis in children. Int J Pediatr Otorhino-
laryngoI49:177-183
Latack JT, Graham MD, Isemink JC, et al (1985) Giant cho-
lesterol cysts of the petrous apex. Am J Neuroradiol
6:409-417
Leighton SEJ, Robson, Anslow P, et al (1993) The role of CT
imaging in the management of chronic suppurative otitis
media. Clin OtolaryngoI18:23-29
Mafee MF, Singleton EL, Valvassori GE, et al (1985) Acute oto-
mastoiditis and its complications: role of CT. Radiology
155:391-397
Mafee MF, Aimi K, Kahlen HL (1986) Chronic otomastoiditis:
a conceptual understanding of CT findings. Radiology
160:193-200
Martin N, Sterkers 0, Nahum H (1990) Chronic inflamma-
tory disease of the middle ear cavities: gadolinium-DTPA
enhanced MR imaging. Radiology 176:399-405
Maw R, Stewart I, Schildre A, et al (1999) Surgical treatment
of chronic otitis media with effusion. Int J Paediatr Otorhi-
nolarygol49 (suppll):S239-241
Nadel D, Herman P, Baumann A, et al (1990) Acute mastoid-
itis: clinical, microbiological and therapeutic aspects. Eur J
Paediatr 149:560-564
O'Donoghue GM, Bates GJ,Anslow P, et al (1987) The predictive
value of high resolution computed tomography in chronic
suppurative ear disease. Clin Otolaryngol 12:89-96
O'Neill P (2000) Clinical evidence: acute otitis media. Br Med
J 319:833-835
Paparella MM (1980) The middle ear effusions. In: Paparella
MM, Shumrich DA (eds) Otolaryngology, vol 2: The ear,
2nd edn. Saunders, Philadelphia
Spiegel JH, Lustig LR, Lee KC, et al (1998) Contemporary
presentation and management of a spectrum of mastoid
abscesses. Laryngoscope 108:822-828
Swartz JD, Harnsberger HR (1998) The middle ear and mas-
toid. In: Swartz JD, Harnsberger HR (eds) Imaging of the
temporal bone, 3rd edn. Thieme, New York, pp 63-107
Swartz JD, Wolfson RJ, Russell KB, et al (1983) High resolution
computed tomography of the middle ear and mastoid. Part
III: surgically altered anatomy and pathology. Radiology
148:461-464
Swartz JD, Harnsberger HR, Mukherji SK (1998) The tempo-
ral bone - contemporary diagnostic dilemmas. Radiol Clin
North Am 36:819-853
Telischi FF, Arnold DJ, Sittler S (1995) Inflammatory neuroma
of the facial nerve associated with chronic otomastoiditis.
Otolaryngol Head Neck Surg 113:319-322
6 Cholesteatoma
N. WRIGHT

CONTENTS tory canal or inner ear. The sac contains keratinised,

stratified squamous epithelium and is more accu-
6.1 Introduction 69 rately described as a keratoma. The problem is that
6.2 Acquired Cholesteatoma 69 the sac of a cholesteatoma is capable of considerable
6.2.1 Background and Clinical Features 69
6.2.2 Aetiology 70 enlargement and may produce extensive destruction
6.2.3 Pars Flaccida (Attic) Acquired Cholesteatoma 70 of the surrounding tissues. This potential, combined
6.2.4 Pars Tensa Acquired Cholesteatoma 71 with the close proximity and intimate relationship
6.2.5 Imaging 71 of the structures in the middle ear and petrous tem-
6.2.6 Complications 73 poral bone, can lead to a substantial morbidity and
6.2.6.1 Ossicular Damage 73
6.2.6.2 Inner Ear Fistulae 73 occasional mortality.
6.2.6.3 Facial Nerve Involvement 73 Cholesteatoma has traditionally been divided into
6.2.6.4 Petrous Apex Extension 74 the congenital and acquired forms, but this method
6.2.6.5 Complete Hearing Loss 74 of classification has been questioned and remains
6.2.6.6 Automastoidectomy 74 controversial. The difficulties in differentiating these
6.2.6.7 Intracranial Extension 74
6.2.7 Differential Diagnosis 74
two classical forms of disease arise particularly when
6.3 Congenital Cholesteatoma 75 the disease process is advanced, and indeed for man-
6.3.1 Background and Clinical Features 75 agement purposes it may be unnecessary distinguish
6.3.2 Site and Origins 75 them, as the treatment is largely determined by the
6.3.3 Imaging 76 extent of the disease itself.
6.3.4 Differential Diagnosis 76
6.4 Postoperative Features 77 The majority of cholesteatomas in the general
References 77 population are considered to be acquired abnormali-
ties, with only a small number being congenital (in
the order of 2%-5%) (McDONALD et al. 1984). How-
ever, in the paediatric age group, the frequency of
congenital lesions is undoubtedly higher.
6.1
Introduction

Superficially the pathological description of a cho- 6.2

lesteatoma seems to imply a rather innocuous lesion:
a cholesteatoma is a sac lined by skin which is present
in an abnormal site - but this apparent innocuous-
ness can be far from reality. Cholesteatomas can arise
in many sites, but for the purposes of this chapter, the
discussion will be restricted to those arising in the
middle ear cavity or other pneumatised area of the
petrous temporal bone. Occasionally they can occur
in other ear-related sites, such as the external audi-
N. WRIGHT
Consultant Paediatric Radiologist, Department of Radiology,
Royal Liverpool NHS Trust, Alder Hey, Eaton Road, Liverpool,
Ll2 2AP, UK
Acquired Cholesteatoma
6.2.1
Background and Clinical Features
Acquired cholesteatoma can arise in the pars ftaccida
or pars tensa of the tympanic membrane (Fig.6.1)
and can be further subdivided into those which are
primarily acquired, with no history of otitis media,
and those which are secondarily acquired, with a his-
tory of otitis media.
The child affected typically has conductive hearing
loss, which may develop a sensorineural element if dis-
ease complications occur. Some cholesteatomas may
70
Tympati<
Mmbrane
a
Cholesteatoma
nd Retraction
PO<tet
b
Fig. 6.1a, b. Attic cholesteatoma. a Normal appearance, b cho-
lesteatoma formation with a retraction pocket and close prox-
imity of ossicles and the facial nerve canal
develop silently, however, going undetected for years.
There may be no evidence of discharge or otalgia.
Lesions in the pars tensa are inclined to present ear-
lier, since there is a tendency to early ossicular damage,
otitis media and aural discharge. Attic (flaccida) lesions
tend to be less symptomatic. Some children will pres-
ent with the complications of a cholesteatoma, with
clinical features of facial paralysis, vertigo, headache
and vomiting, suggesting a lesion in the petrous apex
or an advanced lesion in the middle ear cavity.
There is also a hereditary component in the devel-
opment of cholesteatoma, with a greater incidence in
males and in children with familial airway allergy,
Down's syndrome and cleft palate, possibly due to
eustachian tube dysfunction. Often there is no obvi-
ous cause, however. Interestingly, the presence of
chronic otitis media and other middle ear problems
does not necessarily imply a greater risk of cholestea-
toma, as some ethnic groups with a high incidence of
middle ear problems, such as Native American Indi-
ans and Australian Aborigines, have a relatively low
rate of cholesteatoma formation.
Acquired cholesteatomas are generally more
aggressive in young children, with the pars flaccida
N. Wright
type being particularly susceptible to this, although
slightly less common. It has been suggested that the
reason why lesions are more aggressive in children
is that extensive disease is more frequently found at
the time of surgery and is therefore more difficult
to treat, and that there is consequently a higher inci-
dence of residual and recurrent disease.
6.2.2
Aetiology
The pathophysiological cause for developing acquired
middle ear cholesteatoma is not clearly understood.
Four major theories have been proposed; they are,
in brief:
1. The invagination theory
Eustachian tube dysfunction leads to a reduced
intratympanic pressure which causes retraction of
the tympanic membrane. A retraction "pocket"
develops which, provided normal skin migration
can occur, is no problem, but once this fails or is
impeded, a cholesteatoma can develop. Retraction
pockets are often seen in children who have had
numerous grommet insertions, and are clearly seen
on otoscopy as defects in the tympanic membrane.
Clinically differentiating a pocket from a perforation
can be difficult, especially if the pocket is deep.
2. Perforation theory
A localised perforation of the tympanic mem-
brane allows epithelial invasion to occur through
the hole in the membrane and lead to cholestea-
toma formation.
3. Basal cell hyperplasia
Microscopic defects in the tympanic membrane
allow epithelial cells to proliferate in the subepi-
thelial connective tissue. This allows cholesteato-
mas to form in the presence of a clinically intact
tympanic membrane.
4. Squamous metaplasia
The pluripotential nature of epithelial cells of the
middle ear allows squamous metaplasia to occur
as a response to inflammation, and this may result
in cholesteatoma formation.
It seems likely that a combination of the above the-
ories underlies the development of a cholesteatoma.
6.2.3
Pars Flaccida (Attic) Acquired Cholesteatoma
The pars flaccida acquired cholesteatoma is occasion-
ally termed the "attic cholesteatoma", because of its
Cholesteatoma
tendency to extend posteriorly into the attic. The
lesion begins in Prussak's space, which is the space
deep to the pars fiaccida of the tympanic membrane,
bounded medially by the neck of the malleus and
superiorly by the lateral mallear ligament. Cholestea-
tomas can then encroach posteriorly into the epitym-
panum and characteristically produce medial dis-
placement of the ossicular chain (BUCKINGHAM and
VALVASSORI 1973). They can extend further posteri-
orly either above or below the incus, via the supe-
rior or inferior incudal space respectively. Although
usually extension is via the superior space in adults,
in children extension via the inferior space is more
common. The disease then progresses into the pos-
terior tympanic recess. Extension through the supe-
rior space leads into the attic, aditus and mastoid
regions.
6.2.4
Pars Tensa Acquired Cholesteatoma
There are two types of pars tensa cholesteatoma,
those arising posterosuperiorly and those anterior to
the head of the malleus. Overall, pars tensa choles-
teatomas are more common in children than the pars
fiaccida type, with the posterosuperior type being
four times as common as the anterior type.
1. Posterosuperior or sinus cholesteatoma
Posterosuperior cholesteatomas are due to postero-
superior retractions of the tympanic membrane
and involve the posterior tympanum, including the
lateral facial recess and medial sinus tympani. They
extend to the mastoid antrum via the aditus and
characteristically produce lateral displacement of
the ossicular chain (KICHUCHI et al. 1993), which
distinguishes them from the attic cholesteatoma.
The aditus may be widened and there may be mas-
toid infection secondary to poor aeration.
2. Anterior and inferior cholesteatoma
Cholesteatomas arising anterior and inferior to
the malleus head are unusual and can be compli-
cated by facial nerve involvement at the level of
the geniculate ganglion.
6.2.5
Imaging
The definitive role of imaging in the assessment of
cholesteatoma is uncertain. Many institutions do not
perform routine systematic preoperative imaging,
but more recently WATTS et al. (2000), suggested this
71
should be done, and in their practice it has become
the norm.
The main imaging modality for assessing choles-
teatoma is high-resolution computerised tomogra-
phy (HRCT) in the transverse and coronal planes,
with 1- to 1.5-mm slice thickness being appropriate
(ALEXANDER et al.I998). Using modern third-gener-
ation CT scanners, images in the coronal plane can
be reconstructed from the transverse data set with-
out resorting to direct coronal imaging. This reduces
the radiation exposure. Direct coronal imaging is also
uncomfortable for the child and may be technically
difficult to perform in the acute setting. The trans-
verse data set that is obtained can be utilised to pro-
duce two-dimensional (2D) multiplanar and sagittal
maximum intensity projection (MIP) reformations
(DASTIDAR et al. 1997), which give excellent images
in the sagittal and coronal planes.
Previously plain radiographs and conventional
tomography of the ear and mastoid regions were
used to assess to bony destruction and thus infer the
extent of the disease, but they have been superseded
by computed tomography (CT) and magnetic reso-
nance imaging (MRI) (PHELPS and WRIGHT 1990).
The following CT features suggest the presence of a
cholesteatoma in the middle ear (JACKLER et al. 1984):
1. A homogeneous soft tissue density mass within
the middle ear cavity and possibly extending into
the mastoid region (Fig. 6.2). Small lesions in the
early stages may simply appear in the tympanic
cavity adjacent to the tympanic membrane, in
Prussak's space or the facial recess. Small lesions
in Prussak's space are well shown on coronal CT.
Fig.6.2. Acquired cholesteatoma. Transverse CT image shows
soft tissue attenuation material throughout the middle ear
cavity and mastoid regions. Note the relatively rarefied ossicles
72 N. Wright

2. Bone destruction. This is the cardinal feature of

cholesteatoma, rarely occuring with granulation
tissue alone. The features to note are the erosion
of the scutum, which is an early feature best seen
on coronal CT (Fig. 6.3a), the state of the ossicles
and the mastoid cavity (Fig. 6.3b) and whether
destruction of the tegmen tympani and exten-
sion of disease into the middle cranial fossa has
occurred.
a
3. Remodelling of the middle ear cavity with wid-
ening of the aditus if disease extends into the
antrum.
4. Ossicular displacement (Fig.6.3a). This occurs
medially with pars flaccida (attic) lesions and lat-
erally with pars tensa (sinus) cholesteatoma.

Some areas within the tympanic cavity are espe-

cially difficult for the surgeon to assess clinically, par-
ticularly the posteromedial wall or posterior tym-
panum. This includes the sinus tympani and facial
recess, which may be a source of recurrent choles-
teatoma. Fortunately these areas are clearly seen on
transverse CT images (BROGAN and CHAKERES 1989)
(Fig. 6.4). Most of the complications of cholesteatoma
are also best demonstrated by CT. b
Although CT is able to demonstrate the extent of
Fig. 6.3a, b. Bony destruction. a Coronal CT image shows ero-
disease and is excellent at evaluating bony changes, it
sion of the scutum and medial displacement of the ossicular
is a poor discriminator of soft tissue types. This is par- chain. b Transverse CT image shows destruction of the mas-
ticularly evident when attempting to distinguish cho- toid cavity
lesteatoma from serous otitis (PHELPS and WRIGHT
1990). In contrast,MRI has shown some, albeit limited,
ability in differentiating tissue types. In broad terms,
cholesteatomas have a low to isointense signal on TI-
weighted sequences, are hyperintense on T2-weighting
and fail to enhance following contrast administration
(Table 6.1), except occasionally for the periphery of the
lesion and in automastoidectomy (see Sect. 6.2.6). In
contradistinction to this, granulation tissue enhances,
and cholesterol granuloma shows high signal on T1
and T2 sequences. Serous otitis shows relatively high
signal on T2 sequences. It must be emphasised that
these features are a generalisation and should not be
used didactically, particularly as cholesteatomas, cho-
lesterol granuloma, serous otitis and granulation tissue
may all co-exist in the same middle ear cavity.
MRI also has an important role in evaluating
the intracranial cavity, if there is suspected disease
extending through the tegmen tympani into the
extradural space (BOWES et al. 1987) or through the
sinus plate. Additionally, if there is unexplained sen- Fig.6.4. Transverse CT image shows a normal pneumatised
sorineural hearing loss, MRI may be helpful. middle ear cavity and sinus tympani
Cholesteatoma
Table 6.1. MR appearances of cholesteatoma and associated pathology
T1 signal T2 signal
characteristics characteristics
Cholesteatoma Low to isointense Moderately high signal
Cholesterol granuloma High signal High signal
Granulation tissue Low to isointense Variable
Serous otitis Low to isointense High signal
Fat High signal Low to isointense
6.2.6
Complications
A number of complications can arise from choles-
teatomas, most being related to bony erosion and
associated secondary effects.
6.2.6.1
Ossicular Damage
The pattern of ossicular damage varies with the type
and extent of the cholesteatoma. In pars flaccida
lesions, classically the body of the incus and malleus
head are disconnected from the ossicular chain. In
pars tensa lesions the long process of the incus and
the stapes are affected first. Ossicular chain disrup-
tion is common in both pars tensa and pars flaccida
lesions, occurring in about 90% and 70% of cases
respectively. Erosion of the ossicles also occurs more
frequently when the cholesteatoma is associated with
chronic otitis media. CT will show rarefaction of the
ossicles, destruction and displacement (Figs. 6.2,6.3).
There is some evidence that the incidence of cho-
lesteatoma recurrence is greater in those children
with ossicular erosion and thus they require closer
follow-up (ROSENFIELD et al. 1992).
6.2.6.2
Inner Ear Fistulae
Fistulae between the middle ear cavity and and inner
ear structures can occur as a result of bony erosion;
labyrinthine fistula should be clinically suspected in the
presence of episodic vertigo associated with chronic
otitis media. The proximity of the lateral semicircular
canal to the attic means it is particularly susceptible to
fistula formation secondary to bone destruction, with
an incidence of 5%-10%. Fistulae in general are best
visualised byCT in the transverse plane (SWARTZ 1984).
A cochlear fistula is more common with pars tensa cho-
lesteatoma, usually via the promontory. Oval window
fistulae can be confirmed by identifying the stapes or a
73
Enhancement
pattern
Occasional peripheral enhancement
Uniform enhancement
No enhancement
No enhancement
fragment in the vestibule, usually on coronal CT images
(SILVER et al' 1987).
6.2.6.3
Facial Nerve Involvement
Facial nerve dysfunction can occur as a result of sec-
ondary inflammatory effects or compression and may
not be due to bony erosion. Occasionally inflammatory
neuromas can develop. Facial nerve paresis is unusual
in cholesteatoma, occurring in about 1% of cases, usu-
ally as a result of erosion of the intratemporal por-
tion of the facial nerve canal. Less commonly, the tym-
panic segment of the facial nerve canal is affected
(Fig. 6.5), especially when the anterior epitympanic
recess is involved. Perineural infiltration along the
facial canal may result in disease extension into the
petrous apex. In either event bony destruction is best
demonstrated by CT. However, contrast enhanced MRI
can be helpful in identifying inflammatory change in
the facial nerve itself (DANIELS et al. 1987).
Fig. 6.5. Facial nerve canal involvement. Transverse CT image
shows extensive soft tissue within the middle ear cavity and
mastoid with rarefaction/destruction of the lateral wall of the
tympanic portion of the facial nerve canal. This appearance
can be normal and needs clinical correlation
6.2.6.4
Petrous Apex Extension
The extension of cholesteatoma along the petrous
apex occurs via planes ofleast resistance as a function
of the pneumatisation pattern. There are three poten-
tial routes; infralabyrinthine, anterosuperior and pos-
terosuperior. Infralabyrinthine extension leads to dis-
ease in the clivus and sphenoid sinus. Anterosuperior
extension can result in extradural disease in the
middle cranial fossa. Posterosuperior disease occurs
between the limbs of the superior semicircular canal
and can result in involvement of the internal auditory
meatus, leading to sensorineural hearing loss. Rarely
the cochlea is involved via the same route.
6.2.6.5
Complete Hearing Loss
Complete hearing loss can occur secondary to
petrous apex extension of disease (posterosupe-
rior), labyrinthine fistulae and invasion of the round
window. Resultant labyrinthitis leads to hearing loss,
with CT showing ossification (osteoneogenesis) in
the late stages. MRI may show labyrinthine enhance-
ment with contrast in the early phase.
often only a very thin crust of bone overlying the
lesion, and it can be difficult to confirm whether
the tegmen is genuinely breached (Fig.6.7). Con-
trast-enhanced MRI is helpful in identifying intra-
cranial abscess formation, but cholesteatoma tissue
and necrotic brain tissue can appear very similar (DE
CARPENTIER et al. 1999). Venous thrombosis can be
demonstrated noninvasively by contrast-enhanced
CT or by MR venography (Fig. 6.8).
6.2.7
Differential Diagnosis
The main differential diagnosis for the imaging find-
ings in children with suspected cholesteatoma is
inflammatory granulation tissue. This typically shows
enhancement following the administration of intrave-
nous contrast medium and enhancement is best dem-
onstrated by MRI (MAFEE et al. 1988). The problems
generally arise when trying to differentiate abnormal-
ities on CT. On CT a cholesteatoma may be indistin-
guishable from granulation tissue, cholesterol granu-

6.2.6.6
Automastoidectomy

Rarely the contents of the cholesteatoma sac are dis-

charged externally leaving an empty shell. The resul-
tant appearances, which include remodelling of the
middle ear cavity and mastoid in the absence of a soft
tissue mass, give features which simulate those of a
mastoidectomy (NARDIS et al. 1988), hence the term
"automastoidectomy". An aggressive mural mem-
brane persists, however, which is best shown by con-
trast-enhanced MRI.

6.2.6.7
Intracranial Extension

The use of antibiotics has significantly reduced the

complications of cholesteatoma related to intracra-
nial extension. Meningitis, intracranial abscess for-
mation and lateral sinus thrombosis are rare (less
than 0.3%), but if clinically suspected should be
imaged with CT (Fig.6.6) or MRI. Coronal CT can Fig.6.6. Transverse contrast-enhanced head CT shows a left
also be helpful in identifying bony destruction of the transverse sinus thrombosis and small extradural empyema.
tegmen, but evaluation can be difficult as there is Extracranial soft tissue swelling is also present
Cholesteatoma
Fig. 6.7. Coronal CT image shows extensive soft tissue attenu-
ation material in the middle ear cavity extending up to the
tegmen, which appears breached
Fig. 6.8. Magnetic resonance venography showing right trans-
verse sinus and internal jugular venous occlusion
75
lorna, mucosal oedema and effusion, (see Table 6.1,
Sect. 6.2.5.) (JACKLER et al.1984; PHELPS and WRIGHT
1990). The important distinguishing feature to look
for however, is bony destruction, with erosion of the
scutum being an early feature. MRI has a developing
role in distinguishing the various tissue types encoun-
tered, although it is unable to demonstrate the fine
detail of the bony abnormalities.
6.3
Congenital Cholesteatoma
6.3.1
Background and Clinical Features
Congenital cholesteatomas arise from aberrant embry-
onic epithelial rests and are identical to epidermoids,
occurring intracranially and within the diploic space.
They are rarely bilateral and are presumed to be present
from birth. The incidence is greater in males in a ratio of
3: 1. Although they can present at any age, the typical age
at detection is 4 years. They are often found on routine
otoscopy in asymptomatic children, or in children with
unilateral or bilateral otitis media or conductive hearing
loss. Occasionally the cholesteatoma is visualised as an
opaque or white area behind the tympanic membrane
(McDONALD et al. 1984). In one study (ROSENFIELD et
al. 1992), 18% of paediatric cholesteatomas occurred
in the presence of an intact tympanic membrane, sug-
gesting that the incidence of congenital cholesteatoma
may be greater in the paediatric population than the
generally quoted figure of 2%-5%.
Rarely a congenital cholesteatoma may develop in
the petrous apex, in which case presentation is usu-
ally in the older child with headache, hearing loss and
symptoms of facial nerve dysfunction.
6.3.2
Site and Origins
Within the temporal bone, congenital cholesteatomas
are typically described as arising in five sites (MAFEE
1993): the middle ear, the middle ear and mastoid,
the petrous apex, the mastoid alone and the external
auditory canal. Occasionally they arise in the inter-
nal auditory canal and inner ear. The usual site for
development of a congenital cholesteatoma is in the
middle ear, either adjacent to the eustachian tube
at the site of an embryonic rest of stratified squa-
mous epithelium (MICHAELS 1988), in the perista-
pedial region or in the anterior epitympanum. The
propensity for lesions to arise in the epidermoid for-
mation has been attributed to migration of external
canal ectoderm into the middle ear at the junction of
the first and second branchial arches (AIMI 1983).
Peristapediallesions often result in increased con-
ductive hearing loss because of their proximity to the
ossicular chain and oval window. Congenital choles-
teatomas in the anterior epitympanum may involve
the facial nerve canal.
When the disease is encountered early in its devel- a
opment, it is usually well encapsulated and can be
dealt with relatively easily by surgery. This is some-
times termed a "closed" cholesteatoma. Later on the
lesion may rupture, becoming an "open" lesion, which
is much more destructive and difficult to eradicate. At
this stage the cholesteatoma resembles an acquired
lesion, and this is why there is some confusion regard-
ing the true incidence of congenital cholesteatomas.
b
6.3.3 Fig. 6.9a, b. Congenital cholesteatoma. a Transverse and b cor-
Imaging onal CT images of two children with well-defined soft tissue
lesions adjacent to the tympanic membrane in the middle ear
cavity with no bony destruction
If it presents in the early stages, the diagnosis of
congenital cholesteatoma by CT is relatively straight-
forward, with a soft-tissue density lesion localised to Congenital cholesteatomas developing in the
the anterior mesotympanum. The soft tissue mate- petrous apex should be evaluated with CT and MRI.
rial is similar to that of an acquired cholesteatoma. CT will show the extent of bony involvement, typ-
The differentiating features which suggest the lesion ically showing a "punched-out", slightly expansile
is congenital in origin include an intact tympanic lesion. MRI is helpful in defining tissue characteris-
membrane, a well pneumatised mastoid and an tics and is said to clearly distinguish cholesteatoma
origin clearly in the middle ear cavity (DERLACKI from cholesterol granuloma. Cholesterol granulomas
and CLEMIS 1965; SWARTZ et al.1986) (Fig. 6.9). When are more common in this site than cholesteatoma and
the disease is advanced, the same problems occur in mucoceles, and typically show high signal on Tl and
differentiating cholesteatoma from other associated T2 sequences (AMEDEE et al. 1987; PISANESCHI and
pathology (Table 6.1), especially in the presence of LANGER 2000). The high signal is thought to be due
co-existing serous otitis. to either cholesterol-rich fluid in the cyst or the
The most frequent complication of middle ear con- presence of free methaemoglobin acting as a para-
genital cholesteatoma is destruction of the incus and magnetic contrast agent. The importance of distin-
stapes, and therefore close scrutiny of these regions is guishing cholesterol granuloma is that it requires less
important. As with acquired lesions, damage to the tym- radical surgery than a cholesteatoma.
panic portion of the facial nerve canal and bony erosion
into the lateral semicircular canal and the middle cra-
nial fossa may all occur (McDONALD et al.1984). 6.3.4
Magnetic resonance appearances are also similar Differential Diagnosis
to those of acquired cholesteatoma, with low to inter-
mediate signal on Tl-weighted and high signal on In a child with no history of ear infection and
T2-weighted images (ROBERT et al. 1995). The rare a mass in the middle ear cavity behind an intact
tegmen defects that extend intracranially also benefit tympanic membrane, the differential diagnosis
from contrast-enhanced MRI. includes congenital cholesteatoma, paraganglioma
Cholesteatoma
and schwannoma of the facial nerve. Contrast
enhancement on MRI and the site of origin help to
differentiate the nonenhancing cholesteatoma from
the other possibilities.
In isolated lesions of the petrous apex, cholesterol
granulomas are more common than cholesteatoma
and show relatively characteristic MR features (see
above). Mucoceles should also be considered.
6.4
Postoperative Features
Imaging of the postoperative middle ear cavity and
mastoid region is difficult to interpret as the CT and
MR appearances of most postoperative changes are
nonspecific. In practical terms, a well-pneumatised
postoperative cavity is generally an encouraging fea-
ture. The presence of soft tissue material within the
cavity makes exclusion of recurrent cholesteatoma
more difficult (Fig. 6.10). Contrast-enhanced MRI
may help to distinguish granulation tissue from cho-
lesteatoma and CT will help define the bony limits of
surgery or ongoing disease. Recurrent cholesteatoma
in the middle ear cavity is usually related to pars
tensa lesions, and recurrences in the mastoid to pars
flaccida lesions (SCHURING et al. 1990). Recurrent
disease in the posterior tympanum, such as the sinus
tympani, is a difficult area to assess clinically but
is well demonstrated on transverse CT images. Com-
plications such as fistulae are also well shown by CT.
Fig.6.1O. Transverse postoperative CT image of the middle
ear and mastoid showing the presence of extensive soft tissue
attenuation material. Differentiating recurrent disease from
postoperative change is difficult. Note the bony defect in the
lateral wall of the mastoid
77
Suspected extension into the sigmoid sinus or middle
cranial fossa should be assessed with MRI.
References
Aimi K (1983) Role of the tympanic ring in the pathogenesis
of congenital cholesteatoma. Laryngoscope 93:1140-1146
Alexander AE Jr, Caldemeyer KS, Rigby P (1998) Clinical
and surgical application of reformatted high-resolution
CT of the temporal bone. Neuroimaging Clin North Am
8:631-650
Amedee RG, Marks HW, Lyons GD (1987) Cholesterol granu-
loma of the petrous apex. Am J Otol 8:48-55
Bowes AK, Wiet PJ, Monsell SM, et al (1987) Brain herniation
and space-occupying lesions eroding the tegmen tympani.
Laryngoscope 97:1172-1175
Brogan M, Chakeres DW (1989) Computed tomography and
magnetic resonance imaging of the normal anatomy of the
temporal bone. Semin Ultrasound CT MR 10:178-194
Buckingham RA, Valvassori GE (1973) Tomographic evalua-
tion of cholesteatomas of the middle ear and mastoid. Oto-
laryngol Clin North Am 6:363-368
de Carpentier J, Axon PR, Hargreaves SP, et al (1999) Imaging
of temporal bone brain hernias: atypical appearances on
magnetic resonance imaging. Clin Otolaryngol Allied Sci
24:328-334
Daniels DL, Czervionke LT, Pojunas KW (1987) Facial nerve
enhancement in MR imaging. AJNR 8:605-607
Dastidar P, Pertti R, Karhuketo T (1997) Axial HRCT, two-
dimensional and maximum intensity projection recon-
structions in temporal bone lesions. Acta Otolaryngol
Suppl 529:43-46
Derlacki EL, Clemis JD (1965) Congenital cholesteatoma of
the middle ear and mastoid. Ann Otol Rhinol Laryngol
74:706-727
Jackler RK, Dillon WP, Schindler RA (1984) Computerised
tomography in suppurative ear disease: a correlation of sur-
gical and radiographic findings. Laryngoscope 94:746-752
Kichuchi S, Yamasoba T, Numa T (1993) An analysis of bone
destruction in cholesteatomas by high resolution com-
puted tomography. Auris Nasus Larynx 20:1-7
Mafee MF (1993) MR and CT in the evaluation of acquired and
congenital cholesteatomas of the temporal bone. J Otolar-
yngoI22:239-248
Mafee MF, Levin BC, Applebaum EL, et al (1988) Choleste-
atoma of the middle ear and mastoid. Otolaryngol Clin
North Am 21:265-293
McDonald TJ, Cody DTR, Ryan RE (1984) Congenital choles-
teatoma of the ear. Ann Otol Rhinol Laryngol 93:637-640
Michaels L (1988) Origin of congenital cholesteatoma from
a normally occurring epidermoid rest in the developing
middle ear. Int J Paediatr OtolaryngoI15:51-65
Nardis PF, Teramo N, Guinta S, et al (1988) Unusual cho-
lesteatoma shell: CT findings. J Comput Assist Tomogr
12:1084-1087
Phelps PD, Wright A (1990) Imaging cholesteatoma. Clin
RadioI41:156-162
Pisaneschi MJ, Langer B (2000) Congenital cholesteatoma and
cholesterol granuloma of the temporal bone: role of magnetic
resonance imaging. Top Magn Reson Imaging 11:87-97
78
Robert Y, Carcasset S, Rocourt N, et al (1995) Congenital cho-
lesteatoma of the temporal bone: MR findings and com-
parison with CT. AJNR Am J Neuroradiol 16:755-761
Rosenfield RM, Moura RL, Bluestone CO (1992) Predictors of
residual-recurrent cholesteatoma in children. Arch Otolar-
yngol 118:384-391
Schuring AG, Rizer FM, Lippy WH, et al (1990) Staging for
cholesteatoma in the child, adolescent and adult. Ann Otol
Rhinol Laryngol 99:256-261
Silver AJ, Janecka I, Wazen J, et al (1987) Complicated cho-
N. Wright
lesteatomas; CT findings in inner ear complications of
middle ear cholesteatomas. Radiology 164:47-51
Swartz JO (1984) Cholesteatomas of the middle ear: diagnosis,
etiology and complications. Radiol Clin North Am 22:15-35
Swartz JO, Glazer AU, Faerber EN, et al (1986) Congenital
middle ear deafness: CT study. Radiology 159:187-190
Watts S, Flood LM, Clifford K (2000) A systematic approach
to interpretation of computed tomography scans prior
to surgery of middle ear cholesteatoma. J Laryngol Otol
114:248-253
7 Tumours of the Temporal Bone
S. J. KING

CONTENTS than benign. Imaging is important in tumour diagno-

sis, staging of malignant lesions and follow-up after
7.1 Introduction 79 treatment.
7.2 Squamous Temporal Bone and External Ear 79 The following discussion will consider tumours
7.2.1 Benign Neoplasms 79
7.2.1.1 Exostoses 79 according to their usual anatomical site in the tempo-
7.2.1.2 Haemangiomas, Haemangioendotheliomas and ral bone and their imaging features. Of course, while
Lymphangiomas 80 some tumours are found in a particular location in the
7.2.1.3 Other Tumours 80 temporal bone, others may affect more than one site.
7.2.2 Malignant Neoplasms 81
7.2.2.1 Langerhans' Cell Histiocytosis and
Rhabdomyosarcoma 81
7.2.2.2 Adenoid Cystic Carcinoma 81
7.2.2.3 Ewing Sarcoma 81 7.2
7.2.2.4 Fibrosarcoma 81 Squamous Temporal Bone and
7.2.2.5 Yolk Sac Tumour 81
External Ear
7.3 Middle Ear and Mastoid 82
7.3.1 Benign Neoplasms 82
7.3.1.1 Cholesteatoma 82 Tumours of the squamous temporal bone and exter-
7.3.1.2 Glomus Tumour (Paraganglioma) 82 nal auditory canal in children are listed in Table 7.1.
7.3.1.3 Other Tumours 83
7.3.2 Malignant Neoplasms 83
7.3.2.1 Rhabdomyosarcoma 83 Table 7.1. Tumours of the squamous temporal bone and exter-
7.3.2.2 Langerhans' Cell Histiocytosis 84 nal ear
7.3.2.3 Endolymphatic Sac Tumour 84
7.3.2.4 Melanotic Neuroectodermal Tumour 84 Benign neoplasms Malignant neoplasms
7.3.2.5 Other Tumours 85 Exostosis Langerhans' cell histiocytosis
7.4 Tumours of the Cerebellopontine Angle 85 Osteoblastoma Rhabdomyosarcoma
7.4.1 Epidermoid 86 Chondroblastoma Adenoid cystic carcinoma
7.4.2 Arachnoid Cyst 86 Aneurysmal bone cyst
7.4.3 Lipomas and Dermoids 86 Lymphangioma Ewing sarcoma
7.4.4 Schwannomas 86 Haemangioma
7.4.4.1 Vestibular Schwannomas 86 Haemangioendothelioma
7.4.4.2 Other Schwannomas 87 Myofibromatosis Fibrosarcoma
7.4.5 Neurofibrosarcoma 87 Neurofibroma
7.4.6 Choroid Plexus Papilloma 87 Meningioma Yolk sac tumour
7.4.7 Other Tumours 87
References 88

7.2.1
7.1 Benign Neoplasms
Introduction
7.2.1.1
Temporal bone tumours are unusual in children, and Exostoses
unfortunately they are more commonly malignant
Exostoses are the most frequent solid tumour of the
S.J. KING external auditory canal in adults and may also affect
Consultant Paediatric Radiologist, Bristol Royal Children's children (DI BARTOLOMEO 1979). Commonly they
Hospital, Upper Maudlin Street, Bristol, BS2 8BJ, UK are bilateral lesions, but they usually present with
80
unilateral symptoms of hearing loss, pain, external
otitis and tinnitus. Patients often have a history of
frequent participation in water sports, and the con-
dition has been called "surfer's ear" (TURETSKY
et al. 1990). The external auditory canal is not usu-
ally occluded by the exostosis, but surgery may be
required to alleviate symptoms.
7.2.1.2
Haemangiomas, Haemangioendotheliomas and
Lymphangiomas
Haemangiomas and lymphangiomas are common
tumours in the head and neck in children and may
involve the external auditory canal (Fig. 7.1). Ultra-
sound is the first-line investigation in the assessment
of a cystic mass in the head and neck region and
is frequently diagnostic. Haemangioendothelioma of
the squamous temporal bone and external auditory
canal has also been reported in childhood (ELIASHAR
et al. 1997). Vascular lesions of the head and neck
are covered in Chap. 20 and will not be discussed
further here.
Lymphangiomas are typically multilocular and
may extend over the face or into the neck. They pres-
ent clinically with painless swelling. Magnetic reso-
Fig. 7.1. Haemangioma. Three-month-old child with a vascular
soft tissue mass on ultrasound involving the right squamous
temporal bone and pinna. CT with intravenous contrast shows
an enhancing soft tissue mass with an intracranial component
(arrow)
S. J. King
nance imaging (MRl) with T2-weighted sequences is
particularly valuable for evaluating deep extension of
a lesion.
7.2.1.3
Other Tumours
Other benign tumours of the squamous temporal
bone or external ear are uncommon. They include
osteoblastomas, chondroblastomas, aneurysmal bone
cyst, myofibromatosis, neurogenic tumours and
meningiomas.
Osteoblastomas and chondroblastomas of the tem-
poral bone are extremely rare lesions. Computed
tomography (CT) and MRI have been useful for bone
and soft tissue definition respectively (MIYAZAKI et
al. 1987; FLOWERS et al. 1995).
Aneurysmal bone cysts most frequently involve
the long bones and spine in teenagers and young
adults. They have been described involving the tem-
poral bone. The lesion is characteristically multiloc-
ulated and expands the diploic space. Fluid-fluid
levels are seen on CT and MRI. Haemorrhage into
the cyst may also be appreciated on MRI (CHATEIL et
al. 1997). Treatment is surgical and usually successful
(Fig. 7.2).
Fig. 7.2. Aneurysmal bone cyst. Tl-weighted MRI with gado-
linium of a 4-year-old child. There is an enhancing soft tissue
mass in the right temporal bone that involves the pinna and
extends intracranially. The mass contains cystic spaces and
fluid-fluid levels seen better on unenhanced scans. (Courtesy
of Dr. K. Bradshaw)
Tumours of the Temporal Bone
Infantile myofibromatosis is a benign condition
affecting infants and young children. Benign myofi-
broblastic tumours affect soft tissues, bones and occa-
sionally the viscera. Lesions are characteristically pain-
less firm swellings and comprise proliferations of a
mixture of mesenchymal cells. The imaging character-
istics of infantile myofibromatosis are similar to those
of Langerhans' cell histiocytosis, which is described in
Sect. 7.3.2.2 (QUERALT and POIRER, 1995).
Children with neurofibromatosis type I can develop
a variety of lesions in the head and neck. Neurofibro-
mas of the ear are rare; they most frequently affect
the external auditory canal and pinna (SMULLEN et
al. 1994) and lesions may cause conductive deafness
(LuSTIG and JACKLER 1996).
Rarely, intraosseous meningioma may present as a
solitary osteolytic lesion in the squamous temporal
bone (KUZEYLI et al. 1996).
7.2.2
Malignant Neoplasms
7.2.2.1
Langerhans' Cell Histiocytosis and
Rhabdomyosarcoma
Malignant lesions affecting the squamous temporal
bone and external auditory canal include Langer-
hans' cell histiocytosis and rhabdomyosarcoma. The
former is included here because children with this
condition are usually under the care of a paediatric
oncologist. Both rhabdomyosarcoma and Langer-
hans' cell histiocytosis will be discussed in detail in
Sect. 7.3.2.
Rhabdomyosarcoma of the external auditory canal
is unusual. Occasionally rhabdomyosarcoma of the
skull base may advance undetected and present as a
mass in the external auditory canal (REMLEY et al.
1998).
7.2.2.2
Adenoid Cystic Carcinoma
Malignancies of the parotid gland frequently spread
to involve the temporal bone and, particularly, the
external auditory canal. Parotid malignancy is very
unusual in children, but may follow surgical resec-
tion of a benign pleomorphic adenoma, the most
frequent parotid tumour in children. The malignant
lesion in these cases is adenoid cystic carcinoma.
Clinicopathological parameters and DNA analysis
may be helpful to predict the likelihood of aggressive
81
behaviour in salivary pleomorphic adenomas (JUN-
QUERA et al. 1999).
The best imaging investigations for tumour
involving the parotid gland and external auditory
canal are CT for bone detail and MRI with gadolin-
ium enhancement for delineation of soft tissue, vas-
cular and intracranial structures (HOROWITZ et al.
1994).
7.2.2.3
Ewing Sarcoma
There are a few reports in the literature of Ewing
sarcoma of the temporal bone. The zygomatic arch,
external auditory canal and squamous temporal
bone may be involved (CARROLL and MIKETIC 1987;
KUZEYLI et al. 1997). The clinical presentation is as a
rapidly enlarging, painful mass (Fig. 7.3).
7.2.2.4
Fibrosarcoma
Fibrosarcomas usually present in the 1st year of life
and usually involve the extremities. Less than 2%
involve the head and neck. Fibrosarcoma has been
described in the squamous temporal bone (Op DE
BEECK et al. 1996), middle ear and external audi-
tory canal (SINGH et al. 1989) and the cerebellopon-
tine angle (WASSERMAN 1989). Clinical symptoms
depend on the anatomical site involved. A 2-year-
old child with fibrosarcoma of the temporal bone
presented with a hard, painless, preauricular mass
(Op DE BEECK et al. 1996). The appearances of the
lesion on CT and MRI were non-specific, showing an
enhancing soft tissue mass with destruction of the
inner and outer tables of the temporal bone.
Fibrosarcoma in children appears to be a less
aggressive tumour than in adults and carries a better
prognosis.
7.2.2.5
Yolk Sac Tumour
Germ cell tumours, particularly teratomas, are some
of the commoner tumours of childhood. The tempo-
ral bone is a rare site of yolk sac tumour (endoder-
mal sinus tumour). A recent report describes yolk sac
tumour presenting with peripheral facial nerve palsy
and a polypoid mass in the external auditory canal
in a child of 18 months (FRANK et al. 2000). The
mass appeared following a myringotomy. CT and MRI
revealed tumour in the external auditory canal, which
had spread from the middle ear and mastoid air cells.
 82
a b
Fig.7.3a,b. Ewing sarcoma. a There is an osteolytic lesion involving the left squamous temporal bone and mastoid process
(arrows). b II-weighted MRI with gadolinium. Tumour involves the external auditory canal, petrous bone and mastoid
7.3
Middle Ear and Mastoid
7.3.1
Benign Neoplasms
7.3.1.1
Cholesteatoma
A mass lesion in the middle ear and mastoid is
most frequently a cholesteatoma. Increasingly chil-
dren are referred for imaging when cholesteatoma is
suspected. Cholesteatoma is covered fully in Chap. 6.
Briefly, cholesteatoma has been classified as primary
(congenital) and secondary (acquired) types. Middle
ear cholesteatoma is considered congenital if the
tympanic membrane is intact and the child has not
had ear infections. There has been recent debate
about the validity of this classification, and some
authors have suggested that a high proportion of
cholesteatomas classified as acquired are congenital
lesions (McDoNALD et al. 1984; PHELPS 1997).
7.3.1.2
Glomus Tumour (Paraganglioma)
Glomus tumours or paragangliomas are exceedingly
rare in children. They arise from glomus bodies sit-
uated in the inferior temporal bone involving the
cochlear promontory, jugular foramen and carotid
S. J. King
sheath. Glomus bodies comprise chemoreceptor cells
derived from primitive neural crest (HARNSBERGER
and SWARTZ 1998). Glomus tumours are referred to
as glomus tympanicum when they affect the middle
ear via the cochlear promontory, and glomus jugu-
lotympanicum when they affect both the middle ear
and jugular foramen.
Clinical symptoms are variable depending on
which areas are involved. In children, symptoms
appear to be those of chronic middle ear infection,
and otitis media may co-exist and obscure a glomus
tumour. Diagnosis may be delayed in children because
clinical findings of a red, bulging tympanic mem-
brane usually suggest middle ear infection.
Glomus tumours may be bilateral and in the young
appear more likely to secrete catecholamines than the
same tumours in adults (BARTELS and GURUCHARRI
1988; MAGLIULO et al. 1996).
The characteristic imaging features of glomus
tumours are bone destruction and an enhancing soft
tissue mass. However, bone destruction is unusual in
glomus tympanicum tumours. CT is useful to dem-
onstrate the extent of the mass and may be per-
formed without intravenous contrast together with
gadolinium-enhanced MRI. In contrast to cholestea-
tomas, with glomus tympanicum tumours the ossi-
cles are usually preserved. Glomus tumours have a
characteristic "salt and pepper" appearance on Tl-
weighted MRI. The "pepper" represents signal voids
of arteries and the "salt" signal voids of haemorrhage
Tumours of the Temporal Bone 83

(methaemoglobin) in the tumour (HARNSBERGER
and SWARTZ 1998). MRI with gadolinium is useful to
differentiate a paraganglioma, which enhances, from
cholesteatoma ,which usually does not.
7.3.1.3
Other Tumours
Several other tumours have been described in the
middle ear and mastoid, but they are rare. They
include osteoma (HARLEY and BERKOWITZ 1997),
osteoblastoma (KHASHABA et al. 1995), haemangi-
oma (BUCHANAN et al. 1992), and chondroblastoma
(FLOWERS et al. 1995).
Schwannomas are unusual tumours in the middle
ear and mastoid. Schwannomas typically arise from
the facial nerve or its branches and the location of the
tumour may help in making the diagnosis. Charac-
teristically they enhance with gadolinium on MRI.
Salivary gland choristoma is an interesting devel-
opmental abnormality where there is heterotopic
normal salivary tissue in the middle ear. It usually
presents in the first and second decades with hearing
loss that is not necessarily present from birth. Other
symptoms include tinnitus and serous otitis media.
Salivary gland choristoma is associated with con-
genital ear abnormality including anomalies of the
ossicles, facial nerve, middle ear muscles and lab-
yrinthine windows (SUPIYAPHUN et al. 2000). The
imaging features have not been described and the
diagnosis is made surgically. Salivary choristoma
should be considered in the differential diagnosis of
mass in middle ear, especially if there are co-existing
ear or facial nerve abnormalities.
Table 7.2. Malignant tumours of the middle ear and mastoid
Rhabdomyosarcoma
Langerhans' cell histiocytosis
Endolymphatic sac tumour
Ewing sarcoma
Osteogenic sarcoma
Lymphoma
Leukaemia
Chondrosarcoma
Fibrosarcoma
Germ cell tumour (yolk sac tumour)
Malignant neuroectodermal tumour
myosarcomas originate in the middle ear and mas-
toid, but they are the most common primary malig-
nant tumour of this site (SCHWARTZ et al. 1980).
Rhabdomyosarcomas in the temporal bone are fre-
quently large, invasive and associated with extension
to regional lymph nodes (DONALDSON and ANDER-
SON 1997). Clinical symptoms may suggest unilateral
chronic otitis media, but hearing loss, facial nerve
dysfunction and invasion of the brain, intratemporal
fossa and parapharyngeal space may ensue (MENA
and BORNE 1998). CT and MRI provide useful infor-
mation about the tumour (Fig. 7.4).
Characteristicallyrhabdomyosarcomacausesexten-
sive bone destruction seen well on CT, but the multi-

7.3.2
Malignant Neoplasms

Malignant tumours of the middle ear and mastoid

are, thankfully, uncommon. Paediatric radiologists
are most likely to encounter children with rhabdo-
myosarcoma or Langerhans' cell histiocytosis. Other
malignant tumours are exceedingly rare, they are
listed in Table 7.2.

7.3.2.1
Rhabdomyosarcoma

Rhabdomyosarcomas are relatively common tumours

in children and are highly aggressive, malignant neo-
plasms. They occur in the head and neck in 50% of Fig. 7.4. Rhabdomyosarcoma. CT demonstrates tumour in the
cases, usually in the orbit. Less than 10% of rhabdo- right temporal bone and mastoid
84
planar capacity of MRI is more useful to detect
intracranial spread of tumour. Lesions are characteris-
tically isointense to muscle on Tl-weighted sequences
and of higher signal intensity than muscle on T2-
weighted scans (McHuGH and BOOTHROYD 1999).
7.3.2.2
Langerhans' Cell Histiocytosis
Head and neck involvement with Langerhans' cell
histiocytosis (LCH) is common. Aggregates of abnor-
mal proliferating Langerhans' cells and inflammatory
cells may involve the temporal bone as a solitary
site, but more frequently it is part of a multisystem
disease. LCH involvement of the external and middle
ear has a reported incidence of 61 % (MCCAFFREY
and McDoNALD 1979).
The presenting symptoms of LCH include ear dis-
charge resistant to medical treatment, mastoid swell-
ing, aural polyps and auricular eczema. The diagnosis
may be delayed because the symptoms are confused
with those of ear or mastoid infection (FERNANDEZ-
LATORRE et al. 2000).
Radiographically, LCH lesions are typically osteo-
lytic with well-defined non-sclerotic margins, and
they may erode the mastoid process, tegmen and
facial nerve canals. Inner ear involvement is rare but
important to recognise, as prompt treatment may
prevent permanent deafness (NANDURI et al. 1998).
CT provides excellent demonstration of bone LCH
lesions, which typically have indistinct margins and
associated enhancing soft tissue masses (Fig. 7.5).
Fig. 7.5. Langerhans' cell histiocytosis. CT demonstrates lytic
areas in both petrous pyramids and the left squamous tempo-
ral bone. The right orbit is also affected and is in a phase of
healing
S. J. King
Extradural extension is seen in a minority of cases
(FERNANDEZ-LATORRE et al. 2000). MRI is superior
to CT for diagnosing early intracranial spread of LCH
(MOORE et al. 1989) and is essential for detecting
LCH involvement of the hypothalamic-hypophyseal
axis.
7.3.2.3
Endolymphatic Sac Tumour
Only recently has it been recognised that most
aggressive adenomatous tumours of the temporal
bone arise from the endolymphatic sac. There have
been a few reports in the literature of endolymphatic
sac tumours in older teenagers. The tumour is vas-
cular and is centred on the posterior surface of the
petrous pyramid in the vestibular aqueduct. Tumoral
calcifications are seen on CT (MUKHERJI et al. 1997).
Lesions typically destroy the posterior petrous bone
and may extend into the posterior fossa (HEFFNER
1989; LI et al. 1993). The main differential diagnosis
is paraganglioma, although, if it is appreciated that
the centre of the lesion is in the vestibular aqueduct,
the diagnosis can be suggested.
7.3.2.4
Melanotic Neuroectodermal Tumour
Melanotic neuroectodermal tumour is a rare lesion
of neuroectodermal origin most frequently seen in
the maxilla (69%). Lesions occur in the skull in
around 10% of cases. Tumours are usually benign,
with reported local recurrence rates of up to 15%
and rates of malignant change of 3% (CUTLER et al.
1981).
Skull-based tumours invade brain by local intra-
cranial extension. The temporal bone may be affected
together with secondary invasion of the brain
(GEORGE et al. 1994). CT findings include calvarial
hyperostosis, sclerosis, expansion and calcification,
and the tumour enhances with contrast medium.
On MRI the part of the tumour centred on bone
is low-signal on Tl- and T2-weighted scans, cor-
responding to areas of dense calcification. Central
areas of the tumour appear hyperintense to brain
on Tl-weighted scans and hypointense to brain on
T2-weighted scans, corresponding to areas of mel-
anin on histological examination (GEORGE et al.
1994). Melanin appears to have a paramagnetic effect
because it acts as a free-radical trap that chelates
paramagnetic metal ions, enhancing proton relax-
ation and producing high signal on Tl-weighted
scans (Fig. 7.6) (ATKINSON et al. 1989).
 Tumours of the Temporal Bone 85

a b
Fig.7.6a,b. Melanotic neuroectodermal tumour. a Tl-weighted MRI demonstrates tumour in the right temporal bone and
mastoid. b T2-weighted MRI. The centre of the tumour is hypointense to brain due to deposits of melanin. (Courtesy of Dr.
K. Bradshaw)

7.3.2.5
Other Tumours

A range of malignant neoplasms have been reported

involving the middle ear and mastoid. They are all
rare and include osteogenic sarcoma, Ewing sar-
coma, lymphoma, leukaemia and germ cell tumours
(ZAPPIA et al. 1990; DAVIDSON 1991; KAUFMAN et
al. 1993; BOCKMUHL et al. 1995; SHARMA et al. 1997;
FRANK et al. 2000).
The temporal bone may occasionally be the site of
a second malignant tumour in a child who has been
treated with cranial irradiation for a primary brain
tumour (Fig. 7.7).

7.4
Tumours of the Cerebellopontine Angle
The cerebellopontine angle (CPA) is a region roughly
triangular in shape. The pons is the medial and ante-
rior boundary and the cerebellum is posterior. The
medial wall of the petrous pyramid and porus of
the internal auditory meatus form the lateral border
and the tentorium and jugular tubercle the roof and
floor respectively. Cranial nerves V-VIII are located
superiorly and cranial nerves IX-XI run inferiorly
before they enter the jugular foramen.
Fig. 7.7. Osteogenic sarcoma. CT demonstrates tumour in the
right petrous bone and mastoid process. Previously the child
had received radiotherapy for a cerebellar astrocytoma
Clinical symptoms of CPA mass lesions include
sensorineural hearing loss, vertigo, tinnitus, cranial
nerve palsy of nerves V-XII, ataxia, headaches and
obstructive hydrocephalus (BELLET et al. 1992).
CPA tumours are shown in Table 7.3.
86
Table 7.3. Tumours of the cerebellopontine angle
Epidermoid
Arachnoid cyst
Dermoid
Lipoma
Acoustic schwannoma
Trigeminal schwannoma
Meningioma
Neurofibrosarcoma
Choroid plexus papilloma
Craniopharyngioma
Teratoma
Fibrosarcoma
Granulocytic sarcoma
7.4.1
Epidermoid
Although they are congenital lesions, epidermoids
usually present in adults, in whom they are the third
commonest CPA tumour after acoustic schwannoma
and meningioma. Intracranial epidermoids are most
frequently seen at the CPA, and lesions here are a rare
cause of trigeminal neuralgia in children (RESNICK
et al. 1998).
Epidermoids do not enhance on CT and show
little or no enhancement on MRI, which distinguishes
them from acoustic schwannomas and meningio-
mas. Differentiating epidermoids from arachnoid
cysts can be more difficult. Both lesions may have
higher density than cerebrospinal fluid (CSF) on CT,
although epidermoids are usually higher-signal than
CSF on II-weighted MRI sequences. Arachnoid cysts
have CSF signal on all MRI sequences (TONG et al.
1998). Fluid attenuated inversion recovery (FLAIR)
and constructive interference in steady state (CISS)
MRI sequences are useful to differentiate between
epidermoids and arachnoid cysts and demonstrate
epidermoid tumours in the subarachnoid space better
than spin-echo sequences (IKUSHIMA et al. 1997).
7.4.2
Arachnoid Cyst
Arachnoid cysts of the CPA are congenital lesions,
and affected children present with a variety of clinical
features. These include sensorineural hearing loss,
vertigo, tinnitus, cranial nerve palsy of nerves V-XII,
ataxia, headaches and hydrocephalus (BELLET et al.
1992; JALLO et al. 1997).
CPA arachnoid cysts have CSF density on CT and
CSF signal intensity on all MRI sequences (Fig. 7.8).
S. J. King
Fig.7.8. Arachnoid cyst. T2-weighted MRI demonstrates a
right cerebellopontine angle cyst
In a recent study of five children with CPA arachnoid
cysts,MRI demonstrated brain stem or cerebellar com-
pression by the lesion in each case (JALLO et al. 1997).
7.4.3
Lipomas and Dermoids
Lipomas and dermoids are congenital lesions of the
CPA. Lipomas have been reported more frequently
than dermoids (PENSACK et al. 1986). Characteristi-
cally they have fat density on CT and fat signal on
MRI. Lipomas may extend into the internal auditory
canal and typically infiltrate around neurovascular
structures.
Dermoids are ectodermal inclusion cysts. They are
usually found near the midline and are rarely seen at
the CPA (HAMEL et al. 1980). Typically they have
fat density on CT and fat signal on MRI and they
may contain calcifications and other ectodermal ele-
ments including teeth (AMIRJAMSHIDI et al. 1995).
Dermoids exert greater mass effect than lipomas and
are not infiltrative.
7.4.4
Schwannomas
Schwannomas are benign nerve sheath tumours. In
the CPA schwannomas most frequently arise from the
vestibular nerve (acoustic or vestibular schwannoma)
or trigeminal nerve (trigeminal schwannoma).
7.4.4.1
Vestibular Schwannomas
Vestibular schwannomas in children are frequently
associated with neurofibromatosis. It appears that
there may be as many as eight different clinical sub-
Tumours of the Temporal Bone 87

types of neurofibromatosis, but over 99% of cases are

types 1 and 2 (NF-l and NF-2). NF-l is an autosomal
dominant condition with an incidence of 1 in 3,000
and is associated with a mutation of chromosome 17.
In children with NF-l, vestibular schwannomas are
characteristically unilateral. In cases ofNF-2, the lesion
is bilateral in at least 90% and may be associated with
meningiomas (BELLET et al. 1997). NF-2 has autoso-
mal dominant inheritance, an incidence of 1 in 50,000
and is associated with a deletion on chromosome 22.
Bilateral acoustic schwannomas are by far the most
common intracranial lesions associated with NF-2.
They present in the second and third decades of life
and arise in the internal auditory canal. Children pres-
ent with symptoms including progressive sensorineu-
ral deafness, unsteadiness, dizziness and facial nerve
and trigeminal nerve dysfunction (BELLET et al. 1997).
Ataxia may ensue when the tumour compresses the
cerebellar peduncle and cerebellum.
Vestibular schwannomas enlarge into the CPA from
the internal auditory canal and are well seen on both
CT and MRI. MRI is the better investigation for dem-
onstrating vestibular schwannomas of the internal Fig. 7.9. Vestibular schwannoma. T2-weighted MRI in a child
auditory canal and CPA. Lesions are isointense to brain with neurofibromatosis 2. The tumour on the left is partly
on Tl-weighted sequences, slightly hyperintense to cystic and is distorting the cerebellar peduncle and cerebel-
lum. The fourth ventricle is displaced to the right
brain with T2 weighting and enhance with gadolin-
ium. Vestibular schwannomas typically have an "ice
cream in a cone" appearance on MRI, where the "cone"
represents the part of the lesion in the internal audi- acoustic schwannoma, and a malignant lesion was not
tory canal and the "ice cream" the CPA component. suspected before surgery (SMULLEN et al. 1994).
Lesions sometimes appear cystic on MRI and CT.
Cystic tumours are more difficult to remove surgically
than solid lesions and are more likely to compromise 7.4.6
the facial nerve (KAMEYAMA et al. 1996) (Fig. 7.9). Choroid Plexus Papilloma

7.4.4.2
Other Schwannomas
Although bilateral schwannomas of the acoustic
nerves are characteristic lesions of NF-2, schwanno-
mas may affect cranial nerves V and, very rarely,
X (HERRON et al. 2000). CT is useful to show bone
changes such as erosion of the petrous apex, whereas
MRI demonstrates the relationship of the tumour to
brain and CSF spaces.
The CPA is a very rare site for choroid plexus papil-
loma, which is far more frequently seen in the lateral
and fourth ventricles. When the lesion occurs in the
CPA it presumably derives from the choroid plexus
of the fourth ventricle, in the foramina of Luschka.
Common clinical features in the few cases that have
been reported in the literature include hearing loss
and facial nerve dysfunction. Imaging features are
of an enhancing CPA mass and bone destruction of
the petrous and mastoid parts of the temporal bone
(PLESZAR et al. 1984).

7.4.5
Neurofibrosarcoma 7.4.7
Other Tumours
Neurofibrosarcoma has been reported as a very rare
complication of NF-2. The preoperative MRI in a single Other types of lesion are very rare in the CPA
child with neurofibrosarcoma suggested a benign in children. They include craniopharyngioma, tera-
88
toma, fibrosarcoma and granulocytic sarcoma (chlo-
roma).
Craniopharyngiomas are usually suprasellar
lesions and are exceptionally unusual in the CPA.
There are occasional reports in the literature of cra-
niopharyngioma in this location. The lesion appears
cystic and solid on CT (ALTINORS et al. 1984). CT
is useful to demonstrate calcifications, typical of
craniopharyngiomas.
Teratomas, fibrosarcomas and granulocytic sarco-
mas are all very rare in the CPA (Fig. 7.10). Granu-
locytic sarcoma, or chloroma, is associated with sys-
temic clinical features of leukaemia and may present
with symptoms of facial nerve dysfunction (ROMA-
NIUK 1992; KAUFMAN et al. 1993).
Fig.7.10. Teratoma. Ii-weighted MRI shows a mixed signal
intensity tumour in the right cerebellopontine angle. The right
cerebellar peduncle is displaced by the tumour. (Courtesy of
Dr. K. Bradshaw)
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8 Temporal Bone Trauma
S. J. KING

CONTENTS 8.2
Clinical Presentation
8.1 Introduction 91
8.2 Clinical Presentation 91 Clinical features suggesting a temporal bone fracture
8.3 Types of Imaging Investigation 91
8.3.1 Plain Radiographs 91
are conductive deafness, discharge of cerebrospinal
8.3.2 Computed Tomography 92 fluid (CSF) or bleeding from the ear, or facial paral-
8.3.3 Magnetic Resonance Imaging 92 ysis. Temporal bone fractures in children have a
8.4 Temporal Bone Fractures 93 variety of causes including falls, road traffic acci-
8.4.1 Classification 93 dents, missiles and non-accidental injury (NICHOL
8.4.1.1 Longitudinal, Transverse and Oblique Fractures 93
8.4.1.2 External Auditory Canal Fracture 93
and JOHNSTONE 1994). Non-accidental injury is a
8.5 Complications 94 common problem in paediatric practice. Base of skull
8.5.1 CSF Fistula 94 fractures in general and temporal bone fractures
8.5.2 Deafness 94 in particular are unusual in this clinical context.
8.5.3 Facial Nerve Injury 95 NICHOL and JOHNSTONE identified only one child
8.5.4 Intracranial Injury 95
8.6 Temporal Bone Pseudofractures 95
with a temporal bone fracture due to abuse in their
References 96 study of 34 children with temporal bone fractures.
Unfortunately the radiographic features of skull
fractures do not help to differentiate accidental from
non-accidental injury. Therefore the latter should be
suspected when any child, particularly one under
8.1 2 years of age, has a temporal bone fracture and no
Introduction history or an inappropriate history of trauma. Trauma
at birth is an exceptionally rare cause of temporal
Head injury is a common problem in children, but bone fracture (SILVERMAN 1985). Occasionally a frac-
skull fractures are rare. In a large study of over 6,000 ture of the temporal bone is suspected when a neonate
children with head injury referred for skull radiog- presents with facial nerve injury (KORNBLUT 1977).
raphy, 2.7% had skull fracture (LLOYD et al. 1997). Significant cranial trauma at delivery is now very rare,
A tiny proportion of skull fractures involve the tem- probably due to improvements in obstetric care.
poral bone. This chapter will discuss the clinical pre-
sentation of temporal bone fractures with reference
to specific causes of injury relevant in the young,
including birth trauma and non-accidental injury. 8.3
This will be followed by a discussion of the types Types of Imaging Investigation
of imaging investigation and classification of tempo-
ral bone fractures seen in children. The last section An algorithm for imaging of temporal bone trauma
deals with bone markings seen on CT scans that may in children is given in Fig. 8.1.
mimic fractures.

S.J. KING
Consultant Paediatric Radiologist, Bristol Royal Children's
Hospital, Upper Maudlin Street, Bristol, BS2 8BJ, UK
8.3.1
Plain Radiographs
Temporal bone fractures are difficult to detect on
plain radiographs and are not indicated routinely if
92 S. J. King

Trauma

Suspected intracranial complications

a for detection of fracture/

brain injury/intracranial collections

+/- MRI for detection of brain

injury/intracranial collections

Fig.8.l. Algorithm for imaging of temporal a

bone trauma in children

a basal skull fracture is suspected. A temporal bone

fracture may be seen on X-ray, but usually in situa-
tions where there has been severe trauma, such as a
road traffic accident, and there are complex fractures
of the skull vault and base.

8.3.2
Computed Tomography

High resolution CT is the investigation of choice to diag-

nose a temporal bone fracture and has a high sensi-
tivity of around 90% (BETZ and WEINER 1991). Chil-
dren are usually referred for imaging with CT when
intracranial complications are suspected following head
trauma. The role of imaging is not primarily to detect
a fracture (unless non-accidental injury is suspected),
but rather to identify intracranial sequelae following
trauma (Fig. 8.2). However, CT is the best imaging inves-
tigation for evaluating temporal bone fractures and
demonstrating the status of the ossicular chain.
8.3.3
Magnetic Resonance Imaging
b
Fig. 8.2a, b. Right temporal and bilateral frontal bone fractures,
subdural and intraventricular haemorrhage and right frontal
lobe contusion. A 2-year-old fell out of a first-floor window. a
Haemorrhage subjacent to the right frontal bone fracture and
marked scalp swelling. Subdural haemorrhage is seen along the
posterior falx (large arrow) and there is blood in the left lat-
eral ventricle (small arrows). Brain swelling on the right cere-
bral hemisphere has produced midline shift to the left. b CT
through the petrous pyramids showing a longitudinal fracture
on the right, a left frontal bone fracture and scalp swelling

Children requiring imaging for suspected temporal pected, MRI is more useful than CT, and it may
bone fracture are usually unwell and may be unsta- have a role to document pre-existing temporal lobe
ble clinically. It is impractical to perform MRI in injury and potential morbidity if operative treatment
the acute situation. When intracranial injury is sus- is required (JONES et al. 2000).
Temporal Bone Trauma 93

8.4
Temporal Bone Fractures

8.4.1
Classification

8.4.1.1
Longitudinal, Transverse and Oblique Fractures

Temporal bone fractures have been classified as lon-

gitudinal or transverse with respect to the long axis of
the petrous bone (PROCTOR et al. 1956). This classi-
fication is rather artificial; more commonly the frac-
ture plane lies obliquely (WILLIAMS et al. 1992).
In general, the radiographic features of temporal
bone fractures in children are no different from those
in adults. The imaging characteristics of these inju-
ries are well described (SWARTZ and HARNSBERGER
1998).A typical temporal bone fracture in the young
is an oblique or mixed fracture. It involves the squa-
mous temporal bone and petrous pyramid (Fig. 8.3).
Longitudinal, transverse and oblique fractures are Fig. 8.4. Long oblique fracture of the left temporal bone. There
usually well seen on axial CT (LIEBETRAU et al.1993) is ossicular chain disruption (arrow)
(Figs. 8.4, 8.5).

8.4.1.2
External Auditory Canal Fracture

Longitudinal fractures of the temporal bone are asso-

ciated with fractures of the external auditory canal,

Fig. 8.5. Longitudinal fracture of the left petrous pyramid and

squamous temporal bone with overlying scalp swelling

usually its posterior superior aspect (BACKOUS et al.

Fig. 8.3. Temporal bone fracture involving the right squamous
temporal bone and petrous pyramid. There is some material
in the tympanic cavity, presumably blood. Very slight widen-
ing is seen between the malleus and incus, representing mal-
leoincudal disruption (arrow)
1996) (Fig. 8.6). The anterior and superior walls of the
external auditory canal are formed by the tympanic
plate. Fractures of the tympanic plate have received
less attention in the radiological literature than other
temporal bone fractures. They are due to impact of the
mandibular condyle on the anterior wall of the external
auditory canal and should be suspected when there is
94
Fig. 8.6. Fracture of the posterior superior aspect of the left
external auditory canal associated with a longitudinal fracture
of the petrous pyramid. Haemorrhage and small bone frag-
ments are present in the external auditory canal
a history of direct blow to the mandible and bleeding
from the ear. A mandibular fracture or fracture dislo-
cation of the temporomandibular joint is not always
present. It is important to recognise because hearing
impairment may ensue as a result of damage to the
tympanic membrane or ossicles, or the presence of
haematoma following posterior dislocation of the man-
dibular condyle (CHONG and FAN 2000) (Fig. 8.7).
8.5
Complications
8.5.1
(SF Fistula
Children appear to be at less risk of CSF fistula than
adults. This is thought to be because the skull is more
resilient and air cells are incompletely developed in
childhood (MCGUIRT and STOOL 1995).
High-resolution CT may detect fluid in the middle
ear or mastoid air cells but will not differentiate
between CSF and blood. MRI may be more useful
than CT in this respect. Radiological diagnosis of CSF
leak is difficult. CT cisternography following injec-
tion of contrast medium during lumbar puncture or
heavily T2-weighted MRI sequences can sometimes
be helpful, but are rarely requested in children.
CSF fluid leaks usually resolve spontaneously
within a week of the fracture and conservative treat-
ment is required (MCGUIRT and STOOL 1995).
S. J. King
Fig. 8.7. Right tympanic plate fracture (arrow). There is soft
tissue density - presumably haemorrhage - in the external
auditory canal. The child fell on his face. There was also a frac-
ture of the right mandibular condyle
8.5.2
Deafness
Hearing loss is reported in 68%-96% of children fol-
lowing temporal bone fracture, but after 1 month
deafness persists in a minority (GLARNER et al. 1994;
LEE et al. 1998; WILLIAMS et al. 1992). Conductive
hearing loss appears to be the most frequent pat-
tern of deafness following temporal bone fracture.
Conductive deafness may be caused by haemorrhage
in the middle ear or disruption of the ossicular
chain. In most children, hearing loss is restored
within weeks as haemorrhage resolves. A minority
of children have persistent deafness due to ossicular
damage. They may require surgery to reconstruct
the ossicular chain. Hydroxyapatite prostheses and
cartilage autografts are used if the ossicles cannot be
reoriented to reconstitute the ossicular chain (LI and
BAXTER 2000).
Children with conductive hearing loss of more
than 30 dB persisting several months following the
injury may benefit from surgical intervention (LI and
BAXTER 2000; LEE et al. 1998).
Sensorineural hearing loss is less common than
conductive hearing loss and is reported in 17% of
children in a recent study of paediatric temporal
bone fractures (LEE et al. 1998). Sensorineural deaf-
ness appears more likely to persist than conductive
deafness (LEE et al.1998).
Mixed hearing loss develops in up to 13% of chil-
dren following temporal bone fractures and persists
in 7% (GLARNER et al.1994).
Temporal Bone Trauma 95

It is very important to detect hearing loss in chil-
dren because it can be associated with adverse devel-
opmental outcomes. Follow-up of children with tem-
poral bone fractures should include an audiology
assessment.
8.5.3
Facial Nerve Injury
brain injury following temporal bone fracture. In a
recent study, temporal lobe contusion was a frequent
finding, seen in 46% of patients who had sustained a
fracture of the temporal bone (JONES et al. 2000). The
authors found MRI was more sensitive than unen-
hanced CT for demonstrating brain injury and sug-
gest it is useful for pre-operative assessment of tem-
poral lobe damage in patients who require surgical
treatment following injury.

Facial nerve injury appears to be a less frequent com-

plication of temporal bone fracture in children than
adults (WILLIAMS et al. 1992). Facial nerve paraly-
sis was seen in 3% of children with temporal bone
fractures in a recent study (LEE et al. 1998). Surgi-
cal treatment may be required if there is immediate
onset of complete paralysis of the facial nerve. CT
or MRI is useful before surgery to demonstrate the
site of the lesion and guide surgical decompression
of the facial nerve (NICHOL and JOHNSTONE 1994).
Electroneuronography can be performed reliably in
children and may be useful to diagnose facial nerve
degeneration when there is immediate onset of facial
nerve paralysis. Children who have delayed onset of
facial nerve dysfunction or partial facial paralysis
are usually managed conservatively with repeat nerve
conduction studies (LEE et al. 1998).
8.5.4
Intracranial Injury
Intracranial complications following temporal bone
fracture are more frequent than was previously
thought. MRI is more useful than CT for diagnosing
8.6
Temporal Bone Pseudofractures
There are a number of lines or markings seen on
CT of the temporal bone that may be mistaken for
fractures. Some of these may be more apparent in
children than adults (HILDING 1987), and in general
the unfused sutures of a child's skull may be confused
with fractures.
Normal markings can be divided into sutures,
channels and fissures. Fissures may be internal or
external to the temporal bone (SWARTZ and HARNS-
BERG ER 1998). These normal appearances may mimic
fractures and it is important to be able to differenti-
ate them from fractures when interpreting CT in chil-
dren. Children who require imaging following tem-
poral bone trauma are likely to be very unwell,
and direct high-resolution CT scanning is frequently
only possible in the transverse plane. It is particu-
larly important that the radiologist should recognise
normal appearances on the axial CT projection.
Temporal bone pseudofractures are described in
Table 8.1 and Figs. 8.8-8.11

Table 8.1. Temporal bone "pseudofractures" seen on axial CT (adapted from [16], with permission)
Structure Comment
Extrinsic fissures/sutures
Temporoparietal fissure AP-orientated defect in the posterior part of the squamous temporal bone.
Petro-occipital fissure Contains the inferior petrosal sinus which drains the cavernous sinus.
Sphenopetrosal fissure Separates the sphenoid sinus from the petrous apex.
Occipitomastoid suture Also seen on coronal CT.
Intrinsic sutures
Tympanosquamous In anterior superior wall of the external auditory canal.
Tympanomastoid In posterior superior wall of the external auditory canal.
Petrosquamous Horizontal defect in posterior squamous temporal bone extending to the mastoid.
Petrotympanic Contains chorda tympani nerve and anterior tympanic artery. Difficult to see on axial or coronal CT.
Best seen in sagittal plane.
Intrinsic channels
Cochlear aqueduct Located inferior to the internal auditory canal. Opens on medial surface of the petrous bone.
Vestibular aqueduct Located on the posterior surface of the petrous bone.
Petromastoid canal Represents a vestigial subarcuate fossa of the neonate. Contains subarcuate branch of anterior
inferior cerebellar artery and subarcuate vein.
Singular canal Contains the posterior ampullary nerve (nerve of the posterior semicircular canal).
Seen also on coronal CT.
Mastoid canaliculus Contains the nerve of Arnold (branch of tenth cranial nerve). Seen also on coronal CT.
96
Fig. 8.8. Petro-occipital fissure (arrows), occipitomastoid
suture (0) and tympanosquamous fissure (t)
Fig. 8.10. Vestibular aqueduct (arrows) opens onto the poste-
rior surface of the petrous temporal bone
References
Backous DD,Minor LB,Niparko JK (1996) Trauma to the exter-
nal auditory canal and temporal bone. Otolaryngol Clin
North Am 29:853-866
Betz BW, Weiner MD (1991) Air in the temporomandibular
fossa: CT sign of temporal bone fracture. Radiology
180:463-466
Chong VFH, Fan Y-F (2000) External auditory canal fracture
secondary to mandibular trauma. Clin Radiol 55:714-716
Glarner H, Meuli M, Hof E, et al (1994). Management of
petrous bone fractures in children: analysis of 127 cases. J
Trauma 36:198-201
Hilding DA (1987) Petrous apex and subarcuate fossa matura-
tion. Laryngoscope 97:1129-1135
Jones RM, Rothman MI, Gray WC, et al (2000). Temporal bone
injury in temporal bone fractures. Arch Otolaryngol Head
Neck Surg 126:131-135
Kornblut AD (1977) Facial nerve injuries in children. Ear Nose
Throat J 56:267-274
Lee D, Honrado C, Har-El G, et al (1998) Pediatric temporal
bone fractures. Laryngoscope 108:816-821
s. J. King
Fig. 8.9. Cochlear aqueduct (arrows) opens on the medial sur-
face of the petrous temporal bone
Fig. 8.11. Petromastoid canal. Typical curvilinear appearance
of the canal (arrows). S, superior semicircular canal
Li S-T, Baxter AB (2000) Traumatic ossicular disruption. Am J
Roentgenol174:1296
Liebetrau R, Draf W, Kahle G (1993) Temporal bone fractures:
high resolution CT. J Otolaryngol 22:249-252
Lloyd DA, Carty H, Patterson M, et al (1997) Predictive value of
skull radiography for intracranial injury in children with
blunt head injury. Lancet 349:821-824
McGuirt WF, Stool SE (1995) Cerebrospinal fluid fistula: the
identification and management in paediatric temporal
bone fractures. Laryngoscope 105:359-364
Nichol JW, Johnstone AJ (1994) Temporal bone fractures
in children: a review of 34 cases. J Accid Emerg Med
11:218-222
Proctor B, Gurdjian ES, Webster JE (1956) The ear in head
trauma. Laryngoscope 66:16-59
Silverman FN (1985) The skull. In: Caffey's pediatric X-ray
diagnosis, 8th edn. Year Book, Chicago, pp 63-64
Swartz JD, Harnsberger HR (1998) Trauma. In: Swartz JG,
Harnsberger HR (eds) Imaging of the temporal bone, 3rd
edn. Thieme, New York, pp 318-344
Williams WT, Ghorayeb BY, Yeakley JW (1992) Pediatric tem-
poral bone fractures. Laryngoscope 102:600-603
Part 2 Nose
9 Congenital Malformations of the Face
S. BLASER and D. ARMSTRONG

CONTENTS vasculature or the dura is indicated. Masses involving

the midline or which extend to involve the skull base
9.1 Imaging Considerations 99
require CT to evaluate bone integrity and magnetic
9.2 Considerations Regarding Sedation
and Anesthesia for Imaging 99 resonance imaging (MRI) to evaluate the soft tissue
9.3 Embryology and Facial Development 100 component and potential intracranial extension. MRI
9.3.1 General 100 of the brain is extremely useful for those patients
9.3.2 Facial Development in Detail 100 with abnormal interocular distance, as these patients
9.3.3 Clefting 101
have a much higher risk of intracranial malfor-
9.3.4 Classification of Facial Clefting 104
9.3.5 Association of Facial Clefts mation. Particular care is needed in planning the
and Brain Maldevelopment 105 sedation and anesthesia for the necessary imaging
9.3.6 Congenital Atresias and Stenoses 108 studies, because of the frequently associated airway
9.3.7 Congenital Nasolacrimal Duct Obstruction 111 anomalies in these patients (MACPHERSON 1991).
9.4 Congenital Nasal Masses 111
9.4.1 Hamartomas and Other Congenital Masses 113
9.4.2 Craniosynostoses 116
9.4.3 Selected Syndromes with Craniosynostosis 116
9.4.4 Brain Abnormalities in Synostosis Syndromes 117
References 118 9.2
Considerations Regarding Sedation
and Anesthesia for Imaging

9.1 Nasal airway obstruction in the neonate is usually

Imaging Considerations
Routine plain film evaluation is of limited utility in
the evaluation of the infant or child with complicated
congenital facial malformations. Most complicated
processes require multiplanar computed tomography
(CT) preoperatively for full definition of bone and
soft tissue involvement. Targeted, small-field-of-view
(FOV), high-resolution axial and direct coronal views
are obtained in bone algorithm. Coronal reconstruc-
tions from sub-millimeter multislice scanners may
be used if image quality permits. Three-dimensional
(3D) reconstructions of bone and skin surface are
obtained for surgical planning and postoperative
evaluation. Intravenous contrast material is used
when masses are identified or when demonstration of
S. BLASER, MD, FRCPC
Consultant Paediatric Neuroradiologist, Hospital for Sick Chil-
dren, 555 University Avenue, Toronto M5G 1X8, Canada
D. ARMSTRONG, MD, FRCPC
Consultant Paediatric Neuroradiologist, Hospital for Sick Chil-
dren, 555 University Avenue, Toronto M5G 1X8, Canada
congenital in origin, whether as an isolated entity or
as part of an underlying syndrome, with a wide range
of organ system involvement or even involvement of
multiple regions of the upper airway. Nasal airway
obstruction is common in the facial malformations
and is of particular importance during the first sev-
eral months of life as neonates and young infants
are obligate nasal breathers. Even partial obstruction
of the nares may, therefore, lead to acute respira-
tory compromise. Airway support is therefore criti-
cally important when sedating or even positioning
small infants for radiographic evaluation of craniofa-
cial anomalies, whether or not airway obstruction is
known. Airway control with oral airway or orol-tra-
cheal intubation should be undertaken on a planned
basis rather than as an emergency procedure in the
CT or MRI suite. Blind placement of nasal airways
should be avoided because of the potential for serious
complications such as cerebrospinal fluid (CSF) leaks
and meningitis if unsuspected nasal cavity encepha-
loceles or defects and dehiscence of the skull base
should be present (BANNISTER et al. 1993).
100
9.3
Embryology and Facial Development
9.3.1
General
Cytodifferentiation, differential growth, and apopto-
sis are involved in facial development, and the end
result is tempered by genetic, functional, and envi-
ronmental factors. Environmental factors such as
maternal diabetes, TORCH (toxoplasmosis, other
agents, rubella, cytomegalovirus, herpes simplex)
infections, maternal cigarette smoking and ingestion
of alcohol, and maternal medications including folic
acid antagonists, phenytoin, salicylate, quinine, high-
dose contraceptives, steroids, and retinoic acid are
known to have an adverse effect on craniofacial
development.
Craniofacial development follows closure of the
anterior neuropore, around the time of the II-somite
stage or 25 days after conception. Neural crest cells
arise from the crests of the neural folds, migrate from
their dorsal position, and induce formation of the
branchial arch formations upon contact with pharyn-
geal endoderm. Neural crest ectomesenchyme and
the first branchial arch, stimulated by the morpho-
gens expressed by the homeobox and paired box
genes, give rise to the five prominences which sur-
round the stomodeum or future mouth. These promi-
nences are the single midline frontal prominence, the
paired maxillary prominences, and the paired man-
dibular prominences. The facial prominences will
eventually merge and fuse by disintegration of the
contacting epithelial surfaces by apoptosis or pro-
grammed cell death and mesenchymal transforma-
tion. The intervening grooves fill in by migration
of cells into the grooves and proliferation of subja-
cent mesenchyme. Failure of disintegration prevents
tissue merging and grooves persist as palatal and
facial clefts (Fig. 9.1). Trapping of epithelial residue
6 Fig. 9.la-c. Facial development. a Facial
7
S. Blaser
causes cyst formation along the nasolabial folds, mid-
line mandible, or globulomaxillary lines (CASTILLO
and MUKHERJI 2000; LUI et al. 1997; NAIDICH et al.
1996; SPERBER 1989).
9.3.2
Facial Development in Detail
Facial development is dependent upon the influences
of the organizing centers of the rostral notochord.
The prosencephalic organizing center induces the
upper third of the face while the caudal rhomben-
cephalic center induces the viscerofacial skeleton of
the middle and lower thirds of the face. The frontal
prominence surrounds the forebrain and provides
the median structures of the face including the fore-
head, glabella, and nasal bridge. Olfactory nerves
induce ectodermal thickenings or nasal placodes to
form at the inferolateral border of the frontal process
at about 3 weeks' gestational age. The lateral and
medial limbs of these thickened inverted-U-shaped
thickenings are called the lateral and median nasal
prominences. The inferior tip of the somewhat longer
medial nasal limb is known as the globular process.
Growth of the maxillary prominence causes medial
displacement of the nasal processes, which then are in
position to fuse with the frontal process to complete
the frontonasal process. The paired median nasal
prominences and globular processes proceed to fuse
with each other and with the maxillary prominence
to form the median nasal ridge, the nasal tip, col-
umella, and the anterior nasal spine. Additionally
formed are the median tubercle and philtrum of the
upper lip, the central portion of the superior alveolar
ridge, and the triangular primary palate.
The medial and lateral nasal prominences also
fuse inferiorly with each other and the maxillary
prominence to complete the anterior nares or nos-
trils. As the medial and lateral nasal prominences
prominences at 5-6 weeks' gestational
age; b embryo at 6-7 weeks' gestational
age; c completed facial development.
The lines of fusion (dotted lines) are
potential lines of defting. 1, Mandibular
prominence; 2, maxillary prominence;
3, lens; 4, frontonasal prominence; 5, lat-
eral nasal prominence; 6, medial nasal
prominence; 7, stomodeum; 8, globular
process
Congenital Abnormalities of the Nose and Paranasal Sinuses and Maxillofacial Abnormalities Including Facial Cleft 101

become elevated, the nasal pits sink to form primitive

nares and come in contact with the stomodeum. They
are continuous with the stomodeum until around 6
weeks, when the primitive palate begins to form.
The separation of the nares from the stomodeum by
formation of the palate is intricately involved with
the formation of the overlying facial structures. The
frontonasal and maxillary prominences develop hor-
izontal extensions into the stomodeal chamber, form-
ing the median primary palate and lateral palatal
shelves respectively. These lateral palatal shelves are
held in the vertical position by the tongue until the
stomodeum enlarges and the tongue descends. They
then take up a horizontal orientation and fuse with
the primary palate and the nasal septum. Palatal
fusion begins around 6 weeks and is completed at
around 3 months of intrauterine age. There is a resul-
tant Y-shaped line of palatal fusion. The soft palate
and uvula remain unattached to the nasal septum.
Fig. 9.2. Pierre Robin anomalad. CT 3D reconstruction dem-
onstrates severe micrognathia
9.3.3
(Iefting

Failure of merging and fusion lead to predictable

patterns of clefting. Facial clefting disorders may
be isolated or syndromic, congenital or secondary
to teratogens or pregnancy factors. Syndromes and
sequences associated with clefting are extremely
numerous: literally hundreds have been described.
Certain patterns of clefting are more likely to be asso-
ciated with syndromes and anomalads, and genetic
counselling for recurrence risk and prognosis is
therefore possible in many cases. In one study, 14%
of children with cleft lip, 55% with cleft palate, and
83% with atypical clefting had multiple malforma-
tion syndromes. A few specific central clefting syn-
dromes are Pierre Robin anomalad (Fig. 9.2), in
which there is restricted mandibular development
with resultant failure of the tongue to descend out
of the way of the fusion line of the secondary palate,
and Mohr's orofacial digital syndrome II, with true
Fig. 9.3. Treacher Collins syndrome. CT 3D reconstruction
midline cleft lip and duplicated hallux. Lateral cleft- shows absence of the zygomatic arch
ing syndromes have deficiencies in the first and
second pharyngeal arches leading to characteristic
facies. These include the Treacher Collins or France- 22q11.2, the syndrome is associated with a broad
schetti syndrome of mandibulofacial dysostosis (Fig. nasal bridge, hypoplastic philtrum, hypertelorism,
9.3) and syndromes of hemifacial microsomia such as and palatal deficiency with or without overt palatal
Goldenhar's syndrome (Fig. 9.4). Seventy-five percent clefting. In addition to these deficiencies of the fron-
of patients with velopharyngeal insufficiency have tonasal process, there are other midline anomalies
multiple malformation syndromes involving cranio- including cardiac defects, midline displacement of
facial structures. One in particular, velo-cardio-facial the cervical carotid arteries, frontal lobe white matter
syndrome, is relatively common. Due to deletion of plaques and cysts, and occasionally a small posterior
 102 S. Blaser

a b

Fig. 9.4a-c. Goldenhar's syndrome. a Oblique and b antero-

posterior (AP) views demonstrate mandibular shortening of
the involved side as well as unilateral absence of the zygomatic
arch. The zygomatic arch is present on the uninvolved side (c).
c An anterior open bite is present

fossa vault with Chiari I malformation and second-
ary syringohydromyelia. Attention to the position of
the carotid arteries prior to palatal reconstruction is,
obviously, critical (Fig. 9.5).
Facial clefting, whether isolated or not, leads to
significant difficulties with infant feeding, with early
childhood upper respiratory infections, and with
speech development. There is compromise of facial
growth, in particular of the midface and airway.
Simple clefts involving the upper lip and/or palate
comprise the majority of facial clefts. Failure of the
medial nasal prominence to merge with the maxil-
lary prominence leads to cheiloschisis or unilateral
upper lip clefting. Lip clefting is commonly associ-
ated with palatal clefting, although either may occur
in isolation. Lip clefting typically extends from the
lateral border of the philtrum into the nostril. Palatal
clefts usually are located between the incisors and the
canines and are the result of failure of fusion of one
side of the primary palatal process with the second-
Congenital Abnormalities of the Nose and Paranasal Sinuses and Maxillofacial Abnormalities Including Facial Cleft 103

processes laterally to create the oral commissures

leads to unilateral or bilateral macrostomia, while
overfusion leads to microstomia. Persistence of the
groove between the maxillary and lateral nasal prom-
inences, which contribute the nasal alae, causes
oblique facial clefts extending from the nasal ala to
the medial canthus. In cases of nonanatomic clefts,
where facial clefts do not respect the usual fusion
patterns, the possibility of amniotic band syndrome
should be considered. The clue to diagnosis is usu-

Fig. 9.5. Velo-cardio-facial syndrome. AP 3D reconstruction

of the carotid arteries following bolus dynamic scanning of
the neck demonstrates significant medial deviation of the left
carotid artery. The right side is normal

ary process supplied by the maxillary prominence

(Fig. 9.6). More extensive palatal clefting occurs when
there is failure of fusion between the secondary pal-
atal shelves. Bilateral complete clefts of the lip and
palate are less common and are more severe, with
a
total lack of fusion of the primary and secondary pal-
atal shelves and the maxillary and frontonasal pro-
cesses. A midline globular component results, as well
as a primary palatal remnant with alveolar tissue
and teeth. The unfused tissue combination consisting
of midline lip and alveolar tissue, incisors, and pri-
mary palate is known as the intermaxillary segment
(Fig. 9.7).
Other clefts are less common, but are still pre-
dicted by the fusion patterns of the facial promi-
nences. Failure of fusion of the mandibular processes,
for example, leads to midline mandibular clefting.
Failure of fusion of the mandibular and maxillary

Fig.9.6a,b. Unilateral cleft lip and palate. Axial (a) and direct
coronal (b) CT views show unilateral clefting of the lip, alveo-
lar ridge, and palate in a child with unilateral involvement.
The cleft extends between the incisors and canine tooth in
the region of expected fusion of the primary and secondary
palate b
 104 s. Blaser

a b

c d

ally the presence of intrauterine digital amputations,
atypical facial clefts, and off-midline encephaloceles
(EpPLEY et al. 1998; FOKSTUEN et al. 2001; JONES
1988).
9.3.4
Classification of Facial Clefting
Several different classification systems for midline
clefting are in use. The Tessier system documents
the topographical location of clefts. The clefts are
numbered 1 to 14 with clefts 1 through 7, the facial
clefts, below the orbit and 8 through 14, the cra-
nial clefts, above (Fig. 9.8). The DeMyer system
classifies midline lesions according to the posi-
tion of nasal clefting and the presence of cranium
bifidum. The Sedano system classifies clefting
with relation to specific brain abnormalities. The
choice of classification system varies amongst
institutions (COLEMAN and SYKES 2001; NAIDICH
et al. 1996; SEDANO and GORLIN 1988; TESSIER
1976).
 Congenital Abnormalities of the Nose and Paranasal Sinuses and Maxillofacial Abnormalities Including Facial Cleft 105

e f

Fig. 9.7a-g. Bilateral cleft lip and palate. a AP and b lateral

views in CT 3D reconstruction show unfused intermaxillary
segment in an infant with an unrepaired cleft lip and palate.
Axial CT (c) shows fusion of the intermaxillary segment to
the nasal septum, while coronal CT (d) demonstrates a wide
defect of the secondary palate and deficiency of the poste-
rior septum/vomer. Similar findings are present on axial (e)
and coronal (f, g) CT of a teenager who has undergone earlier
repair. The bone segments remain unfused, demonstrating the
g Y-shaped lines of fusion of the primary and secondary palate

9.3.5 these underlying brain malformations, the holopros-

Association of Facial Clefts
and Brain Maldevelopment
Brain anomalies are, fortunately, relatively uncom-
mon in association with facial malformations and are
usually limited to the 1% in which hyper- or hypo-
telorism is present. Midline brain anomalies, such
as holoprosencephaly and agenesis of the corpus
callosum, lead to dysgenesis of those structures
induced by the prosencephalic organizing center.
Hypotelorism is associated with the most severe of
encephaly spectrum, with failure of normal telence-
phalic splitting of the forebrain.
Alobar holoprosencephaly, at one end of this
spectrum, consists of a single ventricle, absent falx,
crista galli, corpus callosum, and septum pellucidum,
fused thalami/basal ganglia, azygous anterior cere-
bral arteries, absent midline venous sinuses, and
dorsal cyst. The more severe forms are more likely
to be associated with midline facial defects as fail-
ure of normal olfactory bulb and paired optic vesicle
formation causes failure of induction of the normal
 106
a b
Fig. 9.8a,b. Tessier 4 facial cleft. a Bone and b skin-surface 3D reconstructions in a child with a Tessier 4 facial cleft show
unilateral lip and palatal cleft and left maxillary deficiency. The overlying soft tissue deficiency extends from the cleft towards
the orbit, lateral to the displaced nose
facial skeleton and midline structures. Up to 90%
of patients with the alobar form are reported to
have severe facial anomalies, including cyclopia,
hypotelorism, proboscis, flat nose with absent nasal
bridge/ridge/tip/septum, and midline cleft lip and
palate. The midline lip/palate clefts in midline defi-
ciency syndromes are due not to large bilateral clefts
but to true absence of the intermaxillary segment.
Rather than globular midline tissue with teeth and
alveolar ridge and primary palate, there is lack of
formation of the structures usually formed by the
intermaxillary segment (Fig. 9.9). At the other end of
the spectrum are those patients with progressively
better midline brain formation, with lobar holopros-
encephaly as the mildest of the classical holopros-
encephalies. These patients usually, although not
always, have milder facial anomalies, often exhib-
iting only hypotelorism. Patients with septo-optic
dysplasia may have very mild hypotelorism or, more
likely, normal facies. Infants with anterior piriform
recess stenosis, classified as a very mild variant of
the holoprosencephalies, have stenosis of the ante-
rior piriform recess and a flat or small nose (Fig.
9.10). They also frequently have Chiari I malforma-
tion and deficiencies of the hypothalamic-pituitary
s. Blaser
axis (CASTILLO and MUKHERJI 2000; LIU et al. 1997;
NAIDICH et al. 1996; SPERBER 1989).
Hypertelorism predicts underlying dysgenesis/
agenesis of the corpus callosum, cranium bifidum,
encephaloceles, dermoids, or rare anomalies such
as duplicated pituitary stalk. Midline clefting syn-
dromes associated with underlying brain anomalies
include the midline cleft lip (inferior or A group)
and the median cleft face (superior or B group)
syndromes. Patients with anomalies in the superior
group have hypertelorism, broad nasal root, median
cleft or furrowed nose, cranium bifidum and fronto-
nasal encephaloceles. Callosal lipomas occur, and the
upper lip may be involved (Fig. 9.11). The lip defor-
mity in the inferior group may be a notch, cleft, or
deficiency of the midline upper lip vermilion, tuber-
cle, and occasionally philtrum. It is associated with
basal encephaloceles, callosal agenesis, and retinal or
optic nerve dysplasias such as colobomata and Rer-
sistent hyperplastic Rrimary yitreous (PHPV). There
are syndromes including more than one of the above
associations, e.g., morning glory syndrome, which
includes basal encephaloceles, optic nerve colobo-
mata, and absence of portions of the skull base such
as the carotid canal (NAIDICH et al. 1996).
 Congenital Abnormalities of the Nose and Paranasal Sinuses and Maxillofacial Abnormalities Including Facial Cleft 107

a b

c
Fig.9.9a-d. Midline facial deficiency in holoprosencephaly. a Tilted AP 3D reconstruction in a patient with lobar holoprosen-
cephaly shows absence rather than nonfusion of the intermaxillary segment. b Sagittal Tl-weighted and c axial T2-weighted
MRI show a flattened nasal bridge and hypoplastic maxilla. Absence of the nasal septum is also seen d. T2-weighted axial MRI
view demonstrates fusion of gray matter across the midline in the region of the expected genu of corpus callosum. The septum
pellucidum is absent and the thalami are not fused
 108 s. Blaser

a b
Fig. 9.10a,b. Anterior piriform recess stenosis. a Axial CT in a neonate with respiratory distress due to nasal obstruction
demonstrates focal bony anterior recess stenosis. b Coronal CT shows the central midline incisor. This feature would not
be noted clinically until eruption of the primary teeth and is an important marker for the frequent association of midline
pituitary/hypothalamic deficiencies

9.3.6 imaging may be useful in planning nasal construc-

Congenital Atresias and Stenoses
The congenital atresias and stenoses of the midline
structures result from tissue deficiencies along the
lines of fusion or failure of resorption of epithelial
plugs filling primitive cavities such as the choanae.
Nasal agenesis, as an isolated anomaly, is extremely
uncommon. It is more commonly associated with the
previously discussed holoprosencephaly malforma-
tions. Arrhinia with proboscis, single-nostril nose,
or a flat nose with lack of bony/cartilaginous sup-
port are most commonly seen in association with the
more severe grades of holoprosencephaly (see Fig.
9.9). Neurological outcome is usually dismal in the
severe cases, which are also associated with retarda-
tion, poikilothermy, diabetes insipidus, seizures, and
panhypopituitarism. Variable presence of the pre-
maxilla, and even of the degree of symptoms related
to airway obstruction, has been described. CT is
useful in defining the absence of nasal bones as well
as the presence and thickness of bony atresia plates.
Coronal MRI confirms the presence or absence of
olfactory nerves. Multiplanar CT or MRI is used to
fully define the intracranial contents for prognostica-
tion. In cases where the central nervous system devel-
opment is actually normal or near normal, 3D CT
tion or reconstruction (COLE et al. 1989; HENGERER
and NEWBURG 1990).
More common are the bony atresias and stenoses
of the nasal cavity. Posterior choanal stenosis/atresia
is the most frequent of the bony atresias and stenoses
of the nasal cavity. Unilateral or bilateral, these steno-
ses are predominantly bony and are due to defective
development of the oronasal membrane at the level of
the posterior choanae. Rare atresias posterior to this
are membranous and are caused by a persistent buc-
copharyngeal membrane. Unilateral atresia/stenosis
presents later in life with unilateral nasal obstruction
and a chronic nasal discharge. In the past, positive
contrast choanography was used to demonstrate the
funnel shape of the stenotic posterior nasal cavity.
More accurate imaging is now performed with mul-
tiplanar, high-resolution CT sequences. Direct axial
and coronal views are necessary to demonstrate
the presence or absence of complete bony bridging.
Patients with suspected choanal atresia are scanned
following the instillation of vasoconstrictive nasal
drops at an age-appropriate dose or strength. CT fea-
tures of posterior choanal atresia/stenosis include
medial deviation of the medial maxillary wall, best
identified at the level of the pterygopalatine fissure
on the axial view. Also present are lateral deviation
 Congenital Abnormalities of the Nose and Paranasal Sinuses and Maxillofacial Abnormalities Including Facial Cleft 109

a b

Fig. 9.11a-c. Frontonasal dysplasia. a Oblique 3D CT refor-

matted view shows hypertelorism. b II -weighted sagittal MRI
demonstrates lipomatous replacement of tissue in the region
of a bifid, flattened nose as well as absence of the corpus callo-
sum. c Callosal agenesis is also demonstrated on T2-weighted
c coronal MRI

and thickening or splitting of the vomer, fusion or
bridging of the vomer to the perpendicular plate of
the palatine bone, and posterior choanal obstruction
by a bony bridge or soft tissue membrane. Air-fluid
level within the obstructed nasal cavity, elevation of
the ipsilateral hard palate, and hypoplasia of the infe-
rior turbinates are also seen (Fig. 9.12).
Infants with bilateral disease present at birth
or during their first feed with respiratory distress,
although they are able to breathe while crying. Seda-
tion is contraindicated, and axial and coronal scans
are usually performed with oral airway tubes in place
(Fig. 9.13). Anomalies or syndromes are present in
approximately 50% of patients with posterior cho-
anal atresia/stenosis and are more frequent in chil-
dren with bilateral involvement. Asignificant number
of patients with bilateral posterior choanal stenosis
have the CHARGE association (coloboma, heart
defects, atresia choanae, retarded growthl develop-
ment, genital hypoplasia, ear anomalies). High-reso-
lution CT imaging of the petrous bone is therefore
performed at the time of initial documentation of
the posterior choanal obstruction, if at all possible.
Other associated anomalies include Treacher Collins
 110
a b
c branous obstruction
syndrome and Pierre Robin anomalad. Defect of the
anterior skull base with congenital absence of the
cribriform plate and crista galli has been described in
one infant with bilateral atresia. Due to the more con-
tracted nasopharynx and narrow posterior choanal
region in patients with bilateral obstruction, there is
a higher prevalence of both preoperative obstruction
and surgical failures (CARPENTER and MERTEN 1991;
CONIGLIO et al. 1988; DUNHAM and MILLER 1992;
HENGERER and STROME 1982; TADMORE et al. 1984).
Overgrowth or underdevelopment of the nasal pro-
cess of the maxilla narrows the nasal piriform aperture.
Patients with congenital anterior piriform recess steno-
S. Blaser
Fig. 9.12a-c. Unilateral choanal stenosis. a Medial deviation of
the right medial maxillary sinus wall is seen on the right on
axial CT and leads to a funnel-like configuration of the nasal
cavity. b, c Elevation of the ipsilateral hard palate, hypoplasia
of the inferior turbinate, and narrowing of the posterior nasal
cavity are also demonstrated on coronal views. A focal bony
bridge from fusion of the right plate of the vomer to the per-
pendicular palatine plate is demonstrated on axial (a) and cor-
onal (c) views, although it is incomplete and there is no mem-
sis or central midline incisor syndrome have a small
nasal bridge, nasal piriform aperture stenosis, and fre-
quently a single midline incisor (see Fig. 9.10). The
single midline incisor is a marker for a mild form of
holoprosencephaly associated with hypopituitarism. In
order to identify patients at risk of developing hypopi-
tuitarism, the syndrome should be sought during the
neonatal period in children with piriform aperture ste-
nosis by including the unerupted maxillary dentition
on CT imaging. MR imaging may reveal posterior pitu-
itary ectopia, medial deviation of the cavernous carotid
arteries, and Chiari I malformation (ARTMAN and
BOYDEN 1990; BROWN 1989; HAMILTON et al.1998).
 Congenital Abnormalities of the Nose and Paranasal Sinuses and Maxillofacial Abnormalities Including Facial Cleft III

a b
Fig. 9.I3a,b. Bilateral choanal stenosis. a Axial CT shows bilateral medial deviation of the medial maxillary sinus walls and
thickening of the posterior vomer. Significant bony stenosis is seen and there is membranous obstruction noted on axial (a) and
direct coronal (b) views through the level of the posterior choanae. Note the oral airway tube visible on both views

Diffuse nasal cavity narrowing, or stenosis, may 9.3.7

be associated with underdevelopment, as in prema-
turity (Fig. 9.14), or with midface hypoplasia, as in
syndromes such as Crouzon's craniofacial dysostosis,
Treacher Collins mandibulofacial dysostosis, kleeb-
lattschadel (cloverleaf) deformity, and Apert's acro-
cephalosyndactyly. Shortened or absent nasal bones
lead to a characteristic "saddle nose" in Down's syn-
drome. CT evaluation of patients with midface hypo-
plasia is frequently performed to provide 3D recon-
structions prior to calvarial vault reshaping, and to
assess ventricular size and the presence of any associ-
ated midline anomalies. A careful history relating to
symptoms of airway obstruction should be obtained
before these patients are sedated in the radiology
department. Any child with a midface hypoplasia
syndrome and a history of obstruction should be
referred for anesthetic management of airway during
imaging. The presence of coexisting foci of airway
stenosis or obstruction should be considered. Tra-
cheal stenosis due to a completely cartilaginous tra-
chea lacking rings has been reported in a patient
with Crouzon's syndrome, and mandibular anoma-
lies may make emergency airway access in children
with Treacher Collins syndrome difficult (CARPEN-
TER and MERTEN 1991; DEVINE et al. 1984).
Congenital Nasolacrimal Duct Obstruction
Congenital nasolacrimal mucocele is an uncommon
medial canthal mass with intranasal extension. Tears
drain through the canaliculi and common canalicu-
lus, and enter the lacrimal sac and duct via the valve
of Rosenmiiller. The outlet valve of Hasner leads into
the inferior meatus and nasal cavity and prevents ret-
rograde flow of nasal secretions. Failure of perfora-
tion of Hasner's valve leads to dilation of the lacri-
mal duct and intranasal fluid-filled masses. These
masses may be unilateral or bilateral, are also called
dacryocystoceles, and may cause nasal obstruction
(Fig. 9.15). CT is diagnostic, demonstrating the intra-
nasal cystic mass, as well as cystic dilatation of the
lacrimal sac, and dilatation of the bony nasolacrimal
duct (RAND et al. 1989).
9.4
Congenital Nasal Masses
Nasal encephaloceles, nasal dermoids, and nasal glio-
mas are anomalies of nasofrontal development which
result from incomplete regression of a transient pro-
jection of dura known to traverse the prenasal space
during the end of the second gestational month. Her-
niation of brain parenchyma into this dural projec-
 112
a b
Fig. 9.14a,b. Diffuse nasal stenosis of prematurity. a Axial II-weighted and b coronal T2-weighted MRI of the nasal cavity show
diffuse nasal stenosis. Examination was performed for evaluation of the brain in this survivor of prematurity
tion results in nasal encephalocele, while nasal glio-
mas, also known as nasal cerebral heterotopias, result
from regression of the craniad portion of the projec-
tion, sequestering herniated glial tissue either within
the nasal cavity or in the subcutaneous preglabellar
tissue (Fig. 9.16). If the projection of dura remains
adherent to the skin, a dermal sinus tract is formed
which may terminate anywhere along the path of the
dural projection. Desquamation of lining cells results
in the formation of dermoid/epidermoid tumors
along the tract. There is the potential for infection of
these sinus tracts, which mayor may not be associ-
ated with the presence of a tuft of hair. These lesions
commonly cause widening of the nasal bridge and
palpable masses over the dorsum of the nose. Masses
associated with nasal encephaloceles, dermoids, and
gliomas may present with intranasal involvement, but
are most often extranasal.
Basal encephaloceles, such as transethmoidal, sphe-
noethmoidal, and nasoethmoidal encephaloceles, her-
niate into the nasal cavity and may cause significant
obstruction. Imaging features include: deficiency or
"drooping" of the floor of the cribriform plate in
the instance of frontonasal encephaloceles; persistent
sphenopharyngeal foramen in the floor of the sella
turcica in association with sphenoid encephaloceles;
and enlargement of the foramen cecum or, less com-
monly, the fonticulus frontalis in association with a
deformed or bifid crista galli with intracranial extent
S. Blaser
of dermal sinuses. The actual content of the nasal
component of the mass is well visualized on MRI,
allowing differentiation of nasal glioma, which has
mixed-signal-intensity contents, from encephalocele.
MRI of encephaloceles demonstrates continuity of
brain tissue as well as, occasionally, mixed signal
intensity from gliosis and dysgenesis. Nasal encepha-
loceles are also lateral to the crista galli, while nasal
dermoids tend to be midline with splitting of the
crista galli (Fig. 9.17). In the presence of large frontal
defects, such as seen in frontonasal dysplasia, the
course of the anterior cerebral arteries should be
documented preoperatively as well as any midline
anomalies of the corpus callosum and hypothalamic
pituitary axis (see Fig. 9.11). Difficulties with image
interpretation include fatty signal within the sinuses
during development, normal marrow within the
crista galli simulating a fatty tract, normal nasal bone
sutures, and normal incomplete ossification of the
cribriform plate during infancy.
CT and MRI are both able to detect these masses
as well as define the extent of possible nasal cavity
involvement and suggest intracranial connections.
Targeted CT best defines the enlargement of the fora-
men cecum and deformity of the crista galli which
suggest intracranial continuity. MRI, however, more
fully defines the pathway of these intracranial con-
nections on direct sagittal and coronal images, and
precludes any need for administration of intravenous
 Congenital Abnormalities of the Nose and Paranasal Sinuses and Maxillofacial Abnormalities Including Facial Cleft 113

a b

Fig. 9.15a-d. Dacryocystocele. a Axial CT demonstrates intra-

nasal extension of dacryocystocele. Note enlargement of the
bony lacrimal duct. Medial canthal mass with displacement of
the globe is seen on axial (b, c) and coronal (d) views d

contrast material to identify the dura or intrathecal
contrast to differentiate encephaloceles from nasal
gliomas (BARKOVICH et al.1991; LOWE et al. 2000).
9.4.1
Hamartomas and Other Congenital Masses
Nasal hamartomas, or abnormal developmental rests
of tissue arising in the septum, vestibule, and, rarely,
from the paranasal sinuses, occur and may cause
nasal obstruction. Congenital chondromesenchymal
hamartomas are rare tumefacient lesions of the nasal
passages and contiguous sinuses. Lesions present
during infancy. Imaging reveals complex solid and
cystic masses with erosion of bone and an intracra-
nial component. Surgical resection is curative. The
tissue characteristics, with nodules of cartilage, giant
cells, and erythrocyte-filled spaces, are similar to
those of the mesenchymal hamartoma of the chest
wall). Pedunculated skin masses in the spectrum of
midline facial defting may also be found within
the nasal passages. Nasal lipomas may be markers
for intracranial lipomas and midline anomalies as
seen in syndromes with neurocutaneous lipomato-
sis. Additionally, neoplasms such as hemangioperi-
 114 S. Blaser

a b

c d

e f
 Congenital Abnormalities of the Nose and Paranasal Sinuses and Maxillofacial Abnormalities Including Facial Cleft 115

Fig. 9.I7a-e. Nasal encephalocele. a Axial and b coronal CT

views show displacement of the crista galli, left cribriform
plate defect, and widening of the left nasal cavity. c Tl-
weighted sagittal, d T2-weighted sagittal, and e T2-weighted
coronal MRI views show predominantly fluid content. Hernia-
c tion of a tiny amount of brain tissue is present

Fig. 9.16a-f. Nasal dermoid. a, b Axial CT shows nasal tip mass and enlarged foramen cecum. c Coronal view also shows a split
crista galli. d Tl- and e T2-weighted sagittal MRI demonstrate the course of an enlarged tract from the nasal tip intracranially.
f T2-weighted coronal view demonstrates splitting of the crista galli
116 S. Blaser

cytoma have been described during infancy and may,

if midline, simulate congenital midline nasal masses.
Differentiation with contrast administration is useful
(HOLLIS et al.1996; McDERMOTT et al. 1998; OHSAKI
et al. 1992; TERRIS et al. 1993).

9.4.2
Craniosynostoses

Sutures are the site of appositional osteogenesis and

contribute to bone growth. Growth ceases at the time
of closure and occurs by intramembranous ossifica-
tion. The metopic suture starts fusing sometime after
the first year of life, and is obliterated by 7 years of age.
The sagittal, coronal, and lambdoid sutures fuse sig-
nificantly later, at between 20 and 40 years of age. Pre-
mature sutural fusion or synostosis leads to arrested
bone growth at the site of fusion, with compensatory
growth at other, as yet unfused sutural lines.
Premature sutural synostosis may be syndromic
or nonsyndromic. Characteristic skull deformity pat-
terns occur. Premature metopic synostosis leads to
hypotelorism and a "quizzical" appearance of the
orbits on plain films (Fig. 9.18). Sagittal sutural syn- Fig. 9.18. Metopic synostosis. Hypotelorism is present after
metopic synostosis. The orbits are drawn medially and
ostosis gives rise to a narrow, long skull (Fig. 9.19), upward, giving a "quizzical" appearance
an appearance is known as scaphocephaly. Unilateral
coronal or lambdoidal synostosis results in asymmet-
ric skull growth, known as plagiocephaly (Fig. 9.20).
Bilateral coronal synostosis causes a skull shortened
in the anterior-posterior direction, known as brachy-
cephaly, and "Harlequin" (diamond-shaped) orbits
on plain films. The associated excess compensatory
growth results in oxycephaly or turricephaly, a tower-
ing skull. Synostoses of the skull base lead to max-
illary underdevelopment, exophthalmia, and maloc-
clusions (SPERBER 1989).

9.4.3
Selected Syndromes with Craniosynostosis

There are syndromes with multiple synostoses,

thought to result from abnormalities of mesenchy-
mal migration to the skull base and face. The most
common pattern of syndrome-related sutural syn-
ostosis is bicoronal. This is seen in Apert's, Crou-
zon's, and Pfeiffer's syndromes, in all of which there is
widening of the lateral orbital angle and protruding
globes. Children with Apert's syndrome have wid-
ened metopic and sagittal sutures (Fig. 9.21). Crou- Fig. 9.19. Sagittal synostosis. Lateral 3D reconstruction dem-
zon's syndrome is often associated with metopic syn- onstrates elongated skull in a child with complete sagittal syn-
ostosis. Synostosis may be extensive in Apert's and ostosis
Congenital Abnormalities of the Nose and Paranasal Sinuses and Maxillofacial Abnormalities Including Facial Cleft 117

Fig. 9.20. Unilateral coronal synostosis. 3D bird's-eye view

demonstrates patency of the left coronal suture and fusion
of the right coronal suture. Note the deviation of the sagittal
suture as well as the relative overgrowth of the calvarium and
forehead on the unfused side

Crouzon's syndrome, even to the point of cloverleaf

deformity. Additional noncranial features are useful
in differentiating some of these syndromes. Children
with Apert's syndrome, for example, have hand/feet
syndactyly. Crouzon's children have may have bifid
uvula or cleft palate. Children with Saethre-Chotzen
syndrome also have facial asymmetry, low hairline,
ptosis, and syndactyly of the second and third fingers.
Those with Carpenter's syndrome have foot polydac-
tyly, mild finger syndactyly, obesity, hypogenitalism,
and congenital heart disease. In Jackson-Weiss syn-
drome children have broad great toes and mild syn-
dactyly of the feet. Children with Pfeiffer's syndrome
also have deformities of the thumb and great toe. Cof-
fin-Lowry syndrome is associated with fibular aplasia.
Cervical spine fusions are common in both Apert's and
Crouzon's syndromes, C6-7 in the former and C2-5 in Fig. 9.2Ia,b. Apert's syndrome. Maxillary deficiency, towering
the latter (LOWE et al. 2000; TOKuMARu et al. 1996). skull, and delayed ossification of the anterior fontanelle are
seen in 3D bone reconstructions in an infant with Apert's syn-
drome

9.4.4
Brain Abnormalities in Synostosis Syndromes
Brain anomalies and abnormalities due to mechani-
cal distortion occur not infrequently in children with
craniofacial syndromes. Obviously, those who have
brain anomalies have a poorer outcome than those in
whom brain imaging is normal. Knowledge of these
anomalies and other abnormalities such as hydro-
118
cephalus is therefore extremely useful prior to com-
plete and complicated craniofacial surgical repair.
One of the more common findings on brain imag-
ing of children with syndromic sutural stenosis is
ventriculomegaly.Ventricular dilatation may be stable
or progressive and is often due to distortion rather
than obstruction. In some children, the etiology of
progressive ventricular dilatation is impaction of
brain tissue in the incisura or foramen magnum.
Tonsillar herniation is also not uncommon, being
seen particularly with Crouzon's syndrome. Venous
obstruction, either before or after cranial vault
reshaping, will also contribute to progressive ventric-
ular enlargement. Midline brain anomalies such as
callosal or septum pellucidum agenesis occur, par-
ticularly in association with Apert's syndrome. Hip-
pocampal hypoplasia and optic nerve hypoplasia or
atrophy should also be sought. Calvarial thinning
and subsequent pseudoencephaloceles through skull
defects are described in Apert's, Crouzon's, and Pfei-
ffer's syndromes, and in kleeblattschadel (cloverleaf
deformity). Small white-matter lesions have also been
described, possibly related to ischemic change, and
cranial neuropathies from compression in skull base
foramina are common (LOWE et al. 2000; TOKuMARu
et al. 1996).
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Hengerer AS, Newburg JA (1990) Congenital malformations of
the nose and paranasal sinuses. In: Bluestone CD, Stool SE
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Hengerer AS, Strome M (1982) Choanal atresia: a new embry-
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Laryngoscope 92:913-921
Hollis LJ, Bailey CM, Albert DM et al (1996) Nasal lipomas
presenting as part of a syndromic diagnosis. J Laryngol
Otol 110:269-271
Jones MC (1988) Etiology of facial clefts: prospective evalua-
tion of 428 patients. Cleft Palate J 25:16-20
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cial appearance on MR and 3-D CT. AJNR Am J Neuroradiol
18:543-546
Lowe LH, Booth TN, Joglar JM, et al (2000) Midface anomalies
in children. Radiographies 20:907-922
McDermott MB, Ponder TB, Dehner LP (1998) Nasal chon-
dromesenchymal hamartoma: an upper respiratory tract
analogue of the chest wall mesenchymal hamartoma. Am
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Macpherson RI (1991) Radiologic aspects of airway obstruc-
tion. In: The pediatric airway, chap 3. Saunders, Philadel-
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embryology and congenital lesions. In: Som PM, Curtin HD
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10 Facial Injury
B.J. FREDERICKS

CONTENTS ing craniofacial complex. The distribution of frac-

tures during childhood has been well documented.
10.1 Introduction 119 In the preschool child, with primary dentition
10.2 Background 119 (0-5 years), fractures are extremely rare, constitut-
10.2.1 Developmental Anatomy 119
10.2.2 Aetiology 120 ing approximately 1% of all facial fractures. In the
10.2.3 Prevalence 120 older age group, up to the point where the primary
10.3 Diagnosis 120 dentition is exfoliated (6- to ll-year-olds), fractures
10.3.1 Clinical Assessment 120 become more common, with an approximately 4%
10.3.2 Indications for Imaging 121 incidence. After puberty the incidence and types of
10.3.2.1 Diagnosis 121
10.3.2.2 Treatment 121 fracture tend to conform to a more adult distribu-
10.3.2.3 Postoperative Evaluation 121 tion (ROWE 1968). Early literature concerning facial
10.3.2.4 Follow-up 121 fractures related to the adult population, but there
10.4 Radiological Investigation 121 has since been increasing interest in the aetiology,
10.4.1 Introduction 121 incidence and methods of prevention of childhood
10.4.2 X-Radiography 121
10.4.3 Computed Tomography 122 facial fractures. This has resulted in the recognition of
10.4.4 Magnetic Resonance Imaging 123 different behavioural and physiological factors which
10.5 Regional Facial Fractures 123 are important in the paediatric age group and has
10.5.1 Dentoalveolar Injuries 123 identified technical aspects of surgical management
10.5.2 Nasal Fractures 124 which differ from those applicable to the adult popu-
10.5.3 Mandibular Fractures 124
10.5.4 Zygomatic Complex Fractures 125 lation (KABAN 1993).
10.5.5 Orbital Fractures 125
10.5.6 Anterior Cranial Vault and
Supraorbital Fractures 127
10.5.7 Midfacial Fractures 128
10.2
10.5.7.1 Maxillary (Le Fort Type) 129
10.5.7.2 Nasoethmoidal Complex Fractures 130 Background
10.5.8 Conclusion 130
References 131 10.2.1
Developmental Anatomy

During growth there is significant change in the cra-

10.1
Introduction
Children have a relatively low incidence of significant
maxillofacial trauma compared to adults (KABAN et
al. 1977). This relates to the difference in environ-
mental factors, the type of activities undertaken in
childhood and anatomical differences in the matur-
B.T. FREDERICKS, FRCR FRCP (G)
Consultant Paediatric Radiologist, Department of Diagnostic
Imaging and Clinical Physics, Royal Hospital for Sick Chil-
dren, Yorkhill, Glasgow G3 8ST, Scotland, UK
niofacial ratio. In infancy there is a high cranial to
facial skeletal ratio and the face is less prominent,
therefore providing a greater degree of protection
against facial fractures (SPRING and COTE 1996).
The craniofacial ratio is approximate 3:1 in infancy,
changing to 2: 1 in adults. In childhood, the four major
paranasal sinuses are rudimentary and poorly pneu-
matised and the cartilaginous growth centres pre-
dominate. There is a higher proportion of fat in
the facial soft tissues. As a result, relatively less
momentum is transmitted to the facial bony struc-
tures during impact and the skull is relatively more
exposed to trauma. In a retrospective study of
120
72 paediatric patients treated for maxillofacial injury
by a university otolaryngology service, the frequency
of cranial injuries decreased with increasing age.
Soft tissue injuries and isolated nasal fractures were
excluded. Associated cranial injury decreased from
88% in patients younger than 5 years of age to 73%
in the 6- to ll-year-olds and then down to 34% in
the 12- to 16-year-old age group (MCGRAW and COLE
1990). These factors also correlate with the relatively
high incidence of orbital roof injury in the under-
7-year-old age group (KOLTAI et al. 1995) and the
lower incidence of maxillary injury in the younger
age group.
The status of the dentition has a specific influence
on the nature of paediatric facial fractures and, where
surgery is necessary, influences subsequent surgical
management (HAYWARD and SCOTT 1993). In the
first few years of life the developing permanent tooth
buds are small and the tooth-to-bone ratio in the
jaws is relatively low. In the 6- to 12-year age group,
where there is a mixed pattern of dentition, the
relative increase in tooth-to-bone ratio contributes
to weakening of the mandible in specific locations,
increasing the risk of fracture through developing
tooth crypts (POSNICK 1994).
From the age of 5 years there is increasing pneu-
matisation of the paranasal sinuses, and this, together
with the increasing prominence of the facial struc-
tures, increases the predisposition to midface injury.
The incidence of middle-third paediatric fractures is
still low compared with that in adults.
10.2.2
Aetiology
The socioeconomic factors which influence the inci-
dence of facial injury in children are complex. Despite
the high level of supervision in the early years of
life, falls are commonplace in the toddler age group.
The majority of injuries are located in the "fall zone"
which extends from the nose to the mental area. In
most cases the relative momentum is small because
of the small distances involved and the small body
mass. There is, therefore, a high incidence of soft
tissue injuries compared to fractures. In the school-
age child there is an increased incidence of significant
injuries as a result of a relative decrease in supervi-
sion and a greater opportunity for adventurous activ-
ity coupled with a relative lack of caution. There is
increased exposure to fighting and assault. These fac-
tors correlate with the relatively higher incidence of
facial trauma in boys compared with the girls, on
B. J. Fredericks
an approximate 2: 1 ratio. Increasing levels of trauma
occur with falls from bicycles, skateboards, etc. As in
adults, involvement in road traffic accidents, either as
a passenger or pedestrian, causes a high proportion
of the more serious maxillofacial and multisystem
injuries (LIM et al. 1993).
Increasing emphasis has been placed upon strat-
egies to reduce childhood trauma, with attention to
safe play environments, protective devices for use
during sport and, in particular, strategies to reduce
injury in motor vehicle accidents. The latter include
increased provision of pedestrian crossings, traffic
calming measures, speed restrictions and suitable
child restraints in motor vehicles.
In much of the literature on facial injuries in child-
hood, the incidence of more minor facial trauma
has been neglected. A recent series of paediatric and
adolescent patients treated in a large metropolitan
trauma centre indicated that 68% of patients had soft
tissue injury, 24% had dental trauma and only 8%
had fractures of the facial bones. Therefore, 90% suf-
fered from minimal or minor trauma (ZERFOWSKI
and BREMERICH 1998).
Non-accidental injury may manifest as soft tissue
bruising and lacerations to the face. Late presenta-
tion, inconsistent history and repetitive attendances
may suggest abuse. Facial fractures themselves are
relatively unusual, but dentoalveolar, nasal and man-
dibular areas are most commonly involved.
10.2.3
Prevalence
In the non-hospitalised population minor soft tissue
injuries and dental and nasal fractures predominate.
In hospitalised patients mandibular fractures are the
commonest facial fracture.
10.3
Diagnosis
10.3.1
Clinical Assessment
The history and physical examination are vital in
the assessment of facial injuries. It is essential to try
and establish the aetiology, force and direction of
the trauma, from either the child, parents or other
witnesses. The physical examination can therefore be
appropriately directed to the likely areas of injury
Facial Injury
within the face, cranium, or other sites in multisystem
trauma. In particular, respiratory status, oxygenation,
haemodynamic stability, and possible hypothermia
should be rapidly assessed. Testing of visual acuity
and assessing facial proportion, dental occlusion and
dental status are important for diagnosis (SPRING
and COTE 1996).
It is vital in paediatric cases to try and gain the
confidence of the child and provide reassurance in
order to optimise the physical examination and sub-
sequent diagnostic imaging. Poor co-operation and
fear, changes in the level of consciousness, extensive
oedema, haematoma and laceration may significantly
hinder the clinical assessment and subsequent radio-
logical investigation. CARTOTTO and ZUKER (1998)
describe a systematic clinical examination protocol
for craniofacial assessment. Injuries to the brain, cer-
vical spine,chest, cardiovascular system and abdomen
take precedence over the majority of maxillofacial
injuries unless the airway is critically compromised
by the facial injury.
10.3.2
Indications for Imaging
There are several indications for imaging.
10.3.2.1
Diagnosis
Not all clinically suspected fractures require imag-
ing, particularly as surgical intervention is less fre-
quently indicated in children than in the adult popu-
lation. Diagnostic images may, however, be required
for medicolegal purposes. The site and extent of frac-
tures should be demonstrated. It is important to iden-
tify any associated intracranial (HAUG et al. 1992) and
spinal injury. In adults the incidence of cervical spine
injury has been reported in the region of 0.2%-6%
(TUNG et al. 2000). The incidence of spinal injury
is less than in the adult population. The evaluation
of multisystem injury may take precedence over the
evaluation of the facial injury.
10.3.2.2
Treatment
Treatment is facilitated by demonstration of the
number, extent and degree of displacement of the
fractures and by clarifying the feasibility of open
or closed reduction (OCHS and TUCKER 1993). It is
necessary to help the clinician identify which meth-
121
ods of fixation are possible and provide information
regarding bone stock. Importantly, the status of the
dentition and its relation to the site of injury should
be demonstrated. This enables prompt and appropri-
ate management of the injuries (DENNY et al. 1993;
DERDYN et al. 1990).
10.3.2.3
Postoperative Evaluation
Imaging is used to assess postoperative position and
fixation, checking the restoration of the maxillofacial
complex in three dimensions and assisting the clini-
cal assessment of degree of restoration of occlusion
(CAWOOD and STOELINGA 1990).
10.3.2.4
Follow-up
Long-term radiological imaging is involved in moni-
toring growth. Condylar, complex naso-orbital eth-
moidal fractures, and displaced orbital fractures are
associated with growth derangement. Eruption of the
permanent dentition also requires monitoring.
10.4
Radiological Investigation
10.4.1
Introduction
Radiological investigation should only be under-
taken if clinically indicated. Imaging should only be
performed when the patient has been adequately sta-
bilised. On occasion portable films may be required
in the multiply injured patient. Otherwise, films
are best performed in the main hospital radiology
department to optimise image quality. If the child
is conscious, the presence of parents can greatly
improve compliance (HOLLMAN 1994). It is helpful
to explain what is happening in a manner that the
child can understand.
10.4.2
X-Radiography
The standard radiographic series includes a Towne's
view, right and left lateral obliques and posteroante-
rior views of the mandible. An orthopantomogram
(OPT) is often helpful in evaluating the mandible, but
 122
compliance is a problem in the younger age group.
Views of the face consist of an occipitomental view
(OM, Waters), a posteroanterior view (Caldwell), and
a lateral view. Supplemental views may include lat-
eral and axial views of the nose and a submentoverti-
cal view (SMV) of the zygomatic arches (NEWMAN
1998). In younger children the lack of aerated para-
nasal sinuses decreases the sensitivity of facial X-rays
taken for fracture detection (Fig. 10.1).
10.4.3
Computed Tomography
Computed tomography (CT) has increasingly supple-
mented or replaced plain films in the assessment of
facial trauma (ZILKHA 1982). CT has an improved
ability to detect or exclude significant fractures and
should be used where it is likely to improve patient
management and outcome (PEARL 1999). CT pro-
vides greater contrast resolution than plain X-ray
(Fox et al. 1995).
CT technique is obviously dictated by the avail-
able equipment. It may be necessary to use sedation
or anaesthesia to gain adequate diagnostic CT scans.
In the trauma situation this requires specialist input
from either the trauma physician, anaesthetist or
intensive care specialist. Traditional axial CT is obvi-
ously more time consuming than new-generation
spiral CT scanning. The best imaging information
is obtained if the face is scanned in axial and cor-
onal orientations, as fractures parallel to the scan
a b
Fig.IO.t. a Occipitomental (OM) view of an infant. The paranasal sinuses are rudimentary. Soft tissue swelling is demonstrated
over the right orbit. b OM view in a 4-year-old showing early development of maxillary and ethmoidal sinuses. The frontal
sinuses are rudimentary
B. J. Fredericks
plane may be missed. Contiguous slices parallel to
the infraorbital meatal line (Reid's) baseline and sub-
sequently at 90° to baseline are performed. In tradi-
tional CT the resolution of direct coronal scanning
is greater than that of multiplanar reconstruction
(MPR), but it requires further imaging time and may
necessitate placing the patient in the neck-extended
position. It is mandatory that any possible associated
cervical injury is excluded.
Multiplanar reformats may give useful informa-
tion in the coronal and sagittal plane. MPR is better
quality with spiral than traditional CT, but is inferior
to direct coronal CT.
Three-dimensional (3D) views in particular are
useful to complement the axial data set. Whilst they
provide less resolution than axial slices, there is
apparently a greater ability to appreciate the complex
spatial relationships in the 3D view (Fox et al. 1995).
The CT study may be extended to assess for con-
comitant intracranial injury, which may include epi-
dural, subdural or intracerebral haematoma, trau-
matic encephalocele, cerebral oedema or contusion,
pneumocephalus or possible foreign body (HAUG et
al. 1992). It is important to be aware that CT primarily
performed for cranial injuries may reveal clinically
unsuspected facial fractures(REHM and Ross 1995).
Altering window width and levels allows assessment
of orbital and facial soft tissues, including the globe,
optic nerve,orbital fat and intraocular muscles (ROWE
et al. 1981).
The recommended protocol for facial injuries is
contiguous 3-mm slices. Good diagnostic informa-
 Facial Injury
tion can be achieved with relatively low milli Amperes
per second. Five-millimetre slices are adequate in
some situations for a limited survey, while narrower
slices may be indicated in certain clinical situations
to improve resolution. Scanning the face obviously
exposes the lens of the eye to significant radiation,
and the decreased slice thickness and scan overlap
required for good 3D reconstructions on traditional
CT add significantly to the dose. With spiral CT the
dose is less. Data acquisition is faster, thus decreasing
the necessity for sedation or anaesthesia and decreas-
ing scanning time. Good-quality MPR may obviate
the need for direct coronal CT scanning: the latter
gives good resolution but a high dose. Other disad-
vantages of direct coronal CT scanning include arte-
fact that may by caused by dental amalgam. Some
children will tolerate axial CT but not coronal CT
without anaesthesia, and head extension is contrain-
dicated in the presence of suspected or proven cervi-
cal spine injury.
Only stabilised patients are taken to C1. The time
they spend in the scanner is kept to the minimum and
the facial examination may be deferred to allow the
optimum evaluation and management of other sig-
nificant injuries (JOHNSON 1984).
In a trauma situation we commonly image the
child on the flat portion of the CT table rather than in
the head holder, to prevent neck manipulation. This
position also allows the scan to be extended to include
the cranium and cervical spine if necessary, and in
smaller children the thorax and abdomen may also be
imaged as necessary without moving the patient.
Fig. 10.2. a Fractured root socket. b Reimplanted avulsed teeth
subsequently showing severe inflammatory reabsorption
123
10.4.4
Magnetic Resonance Imaging
The use of magnetic resonance imaging (MRI) in the
acute trauma situation is relatively restricted. It can
be helpful for subsequent assessment of intracra-
nial injury, ocular and optic nerve injury (TONAMI
et al. 1991), soft tissue injuries and post-traumatic
sequelae (HOPPER et al. 1992).
10.5
Regional Facial Fractures
10.5.1
Dentoalveolar Injuries
Isolated dentoalveolar injuries are extremelycommon
in childhood (CROCKETT et al. 1989). The incisors
and canines in the anterior maxillary and midma-
ndibular bone are commonly injured because of their
prominent location in a lower facial trauma (POSNICK
1994). A fracture of the tooth may occur at the level
of the crown, or deeper into the pulp (Fig. IO.2a).
The teeth may be subluxated, dislocated or impacted
(Fig. 1O.2b).
Management is dependent on whether the pri-
mary or permanent dentition is affected. A dental
opinion is often indicated. Radiological assessment
is by maxillary and mandibular views, OPT or spe-
cific dental X-rays, as indicated. As root fractures may
occur in the oblique plane they may be difficult to
identify in one view, and therefore two views such as
a periapical and occlusal view are useful. The fracture
lines will appear as a transverse lucency or ellipse,
b
124 B. J. Fredericks

depending on the angle of the X-ray. The patient may 10.5.3

also need evaluation for suspected tooth fragment Mandibular Fractures
aspiration. Displaced fractures involving permanent
teeth and associated alveolar bone require reduction The mandible constitutes the lower border of the
and immobilisation. facial skeleton and therefore is exposed in falls and
Dental follow-up is indicated to check maintenance lower facial trauma. Mandibular fractures are second
of normal occlusion and monitor eruption of the per- in incidence only to nasal fractures. The developmen-
manent dentition. Radiological follow-up is indicated tal anatomy affects the pattern of injury that occurs
after trauma to assess such complications as inflam- during childhood. During infancy and early child-
matory reabsorption (Fig.l0.2b) and ankylosis. hood, the condylar process has a thicker and shorter
neck and a well vascularised marrow space. There-
fore, condylar trauma tends to cause compressive
10.5.2 injuries and neck fractures are rare. In a series
Nasal Fractures reported by ZERFOWSKI and BREMERICH (1998) the
condyle was involved in 80%, and the incidence of
Nasal injuries in childhood are common. In the condylar fracture is greater in the under-l 0 age group
younger child the degree of protrusion of the nose is compared with the under-15-year-olds (SPRING and
less than in the adult and there is a greater proportion COTE 1996). In later childhood and adolescents the
of cartilage rather than bone (CROCKETT et al. 1989). condylar process is elongated and has a higher pro-
The force of the injury may be transmitted across the portion of cortical bone, which is associated with an
maxilla and the resultant widespread facial swelling increased incidence of neck fractures. The high can-
may make clinical assessment difficult. Isolated dis- cellous bone content in childhood results in greater
placement of the cartilaginous portion of the septum elasticity of the jaw, explaining the high incidence of
may occur (ROWE 1968). There may be injury, dis- greenstick and undisplaced fractures compared with
location or fracture of the cartilaginous or bony that in the adult population (POSNICK 1994).
components of the nasal pyramid (COLTON and As the mandible is U-shaped, injuries are often bilat-
BEEKHUIS 1986). Development of the nasal septum is eral or multiple. Falls on to the chin are commonly
thought to be a major factor in midface growth, but associated with symphyseal or parasymphyseal frac-
despite the frequency of nasal injuries in childhood, tures (Fig. lOA) associated with unilateral or bilateral
extensive midface growth retardation has not been
commonly reported (POSNICK 1994). It is important
to recognise septal haematoma formation, which
may result in septal necrosis and perforation if not
promptly treated.
Many nasal injuries do not require intervention.
A repeat clinical examination a few days after injury
may be extremely helpful because patient compliance
will be increased and accurate assessment is easier
when the facial swelling has diminished. At this point,
imaging may be indicated. There is no indication for
routine X-rays in the evaluation of simple nasal frac-
tures (Fig. 10.3). A high false negative and false posi-
tive rate has been reported in the assessment of iso-
lated nasal bone trauma (CROCKETT et al. 1989). A
specialist ENT or maxillofacial opinion may indicate
those patients who would benefit from radiological
investigation.
Nasal fractures may be seen in association with
more severe craniofacial injury and their investiga-
tion is dictated by these associated injuries, which Fig. 10.3. Lateral X-ray of comminuted displaced nasal frac-
may require more urgent radiological evaluation. ture
Facial Injury
condyle fractures. Lateral injuries tend to cause frac-
tures of the ipsilateral body/angle (Figs. 10.5, 10.6) asso-
ciated with contralateral condylar or angular fractures
(CROCKETT et al.1989). The pattern offractures in chil-
dren may differ from adults due to the decreased dif-
ferentiation between medullary and cortical bone; the
fracture line may be irregular as it passes between the
developing permanent teeth (Figs. lO.5a and 10.6), and
there is a high incidence of greenstick injuries where
the bony cortex is broken at one aspect and deformed
at the other (ROWE 1968). Tooth sockets of unerupted
teeth in children present areas of potential weakness,
but this is partially offset by the greater flexibility and
resilience of bone in children (NEWMAN 1998).
Clinical diagnosis of mandibular fractures may be
confirmed by radiographic examination using stan-
dard views of the mandible: anteroposterior, right
and left oblique, and Towne's views. An OPT is often
helpful if the patient is compliant. CT may be helpful
particularly when other facial fractures are present.
Injury to the mandibular condylar process is
common, and in the paediatric age group many frac-
tures are undisplaced. Compared with adults the
periosteum in children has marked osteogenic activ-
ity, and there is a greater degree of bony remodelling.
Many mandibular condyle injuries are treated con-
servatively.
Complications include temporomandibular joint
(TMJ) disruption and dysfunction, due either to
Fig. lOA. OM view of mandibular symphyseal fracture. Bilat-
eral maxillary opacification. Displaced fracture right lateral
maxillary wall. Nasal deformity. CT demonstrated complex
fractures of maxilla and nasoethmoidal complex
125
direct injury to the TMJ or to subsequent ankylosis
(MATHOG and ROZENBERG 1976). Damage to the con-
dylar growth centre may result in ipsilateral growth
retardation with subsequent facial asymmetry and
malocclusion (POSNICK 1994). Non-union or mal-
union is infrequent (SPRING and COTE 1996).
10.5.4
Zygomatic Complex Fractures
The zygomatic complex injuries are uncommon in
young children due to the rudimentary development
of the maxillary sinus. With increasing sinus aeration
after the age of 7 years, blunt trauma may result in com-
plex fractures. The OM radiograph will usually dem-
onstrate any significant displacement of the zygoma,
but does not clearly delineate the status of the orbital
floor. Axial CT will demonstrate posterior displace-
ment, but rotation of the body of zygoma and the status
of the orbital floor are well seen in coronal images. The
tripod fracture consists of injury through the fron-
tozygomatic suture, zygomatic arch, infraorbital rim
and zygomatic buttress. Additional involvement of the
orbital floor and lateral orbital floor constitutes a quad-
ripod fracture (POSNICK 1994) (Fig. 10.6).
10.5.5
Orbital Fractures
By the age of 7 years, as a result of continuing growth
of the maxilla and more extensive pneumatisation
of the paranasal sinuses, the face consists of a more
adult form of compact and dense bony buttresses
connected by thin and brittle membranous bony
planes. Trauma to the eye or orbital margin may cause
blow-in and blow-out fractures of one or more orbital
walls or floor. These may be associated with other
fractures such as anterior cranial vault, orbital roof,
orbitonasal ethmoid (NOE), Le Fort midface or zygo-
maticofacial complex fractures (Fig. 10.7). Ophthal-
mological assessment is essential at presentation.
The two most common paediatric orbital fractures
are described by KOLTAI et al. (1995). One form is
orbital wall blow-out fractures due to direct trauma
to the globe. More commonly, trauma at the orbital
rim may cause orbital wall buckling. With more
severe force a fracture may occur in the orbital rim
itself. Optic nerve injury may result without an asso-
ciated fracture at the orbital apex.
Isolated blow-out fracture of the orbital floor may
occur, the fracture occurring through the orbital floor
 126 B. J. Fredericks

_
b
a_~

Fig. 10.5. a Left oblique mandibular view showing fracture of the angle of the mandible extending to the unerupted tooth bud.
Dental brace in situ on upper dentition. Dentoalveolar injury had occurred in the anterior maxillary region. b OM view showing
left mandibular angle fracture. A fluid level is present in the left maxillary antrum associated with left maxillary fracture. c Axial
CT. Left maxillary fluid level and associated displaced fragment from lateral maxillary wall. Left mandibular angle fracture was
present in addition (a, b). d Axial facial CT in the same patient extended to include the cranium. Extensive facial soft tissue
swelling is demonstrated. There is a layered right temporal extradural haemorrhage

(i.e. the roof of the maxillary antrum) with the stron-
ger orbital rim uninvolved. Orbital contents may her-
niate through the orbital floor, which may appear as
an opaque tear drop in the roof of the antrum demon-
strated on the OM view. A fluid level may be present in
the maxillary antrum on the horizontal beam film. Air
may enter the orbit from the sinus, giving the "black
eyebrow" sign. Isolated blow-out of the medial orbit
may occur in the region of the lamina papyracea, some-
times with soft tissue entrapment. This type of frac-
ture is an important cause oflate enophthalmos (BURM
et al. 1999). Further evaluation by CT scanning may
be indicated if surgical intervention is contemplated in
suspected isolated blow-out injuries (Fig. 10.8).
CT in axial and coronal planes will visualise the
orbital walls (POSNICK 1994). Soft tissue structures
may also be assessed with CT by altering window
width and levels. MRI may be helpful in further
 Facial Injury 127

a b

Fig. 10.6. a OM view of face. Right facial soft tissue swelling. Smaller, opaque right maxillary antrum. A quadripod fracture was
demonstrated with disruption of the zygomaticofacial suture and fracture through the right zygomatic arch, right orbital floor
and rim and lateral maxillary wall. b Axial CT. Fractures of anterior and posterior wall of right maxillary sinus and greenstick
fracture of right zygomatic arch

a b
Fig. 10.7. a Axial CT. Fracture of medial and lateral wall fractures of left orbit. b Associated fracture of left orbital roof. The
integrity of the orbital roof and floor of anterior cranial fossa is best assessed in coronal projection but direct coronal imaging
was not possible in this case

assessment of soft tissues of the globe, optic nerve
and orbital fat, and may provide additional infor-
mation in the presence of blindness associated with
midfacial fractures (ASHAR et al.1998). Severe orbital
infection may occur as a consequence of orbital frac-
ture, particularly when associated with a communi-
cation to the paranasal sinuses (SILVER et al. 1992).
10.5.6
Anterior Cranial Vault and Supraorbital
Fractures
This combination of injury tends to be seen in the
younger age group before the development of the fron-
tal sinuses, and therefore direct trauma to the promi-
nent superior aspect of the orbital rim is transmitted
direct to the orbital roof (MESSINGER et al. 1989).
Anterior cranial injuries have a high association with
brain injury and dural tears that may cause cerebro-
spinal fluid leakage (POSNICK 1994) (Figs. 1O.9a and
10.6). There is therefore a high rate of septic complica-
tions such as meningitis and cerebral abscess forma-
tion, and also, compared with other facial fractures, the
highest association with ocular injuries (MARTELLO
and VASCONEZ 1997).
An unusual combination of fractures may occur
involving the frontomaxillary area. Dysjunction of
parts of the frontal bone, orbital roofs and sphenoid
occurs so that the midface and anterior skull base
 128 B. J. Fredericks

a b

Fig. 10.8. a Coronal CT demonstrating isolated fracture right orbit with a blow-out through the orbital floor and associated
maxillary "tear drop". The fluid in the sinus is at the apex due to head-hung coronal imaging. b A more anterior coronal image
displayed at different window width and level which better demonstrates the status of the intraocular soft tissues

a b

Fig. 10.9. a Axial CT demonstrating soft tissue swelling. There is flattening of the midface with complex naso-orbital ethmoidal
(NOE) fracture. Fracture fragments are rotated out into the orbit. There is fracture deviation of the nasal septum and associated
opacification of the air cells. b Axial CT, rostral slice, showing posteriorly displaced fragment of supraorbital rim. Brain CT
demonstrated anterior intracranial haemorrhage and pneumocephalus

are separated from the main body of the cranium
(MATRAS and KUDERNA 1980).
10.5.7
Midfacial Fractures
Previously the Le Fort system was used to classify
facial fractures, but this classification gives insuf-
ficient information to adequately describe midface
fractures and allow adequate communication
between the radiologist and the surgeon to plan
optimum therapy. The use of car seat restraints has
increased the survival of children involved in high-
speed road traffic accidents. There are therefore
more survivors with complex facial injuries which
often include fronto-orbital, zygomatic and naso-
ethmoidal fractures in combination with maxillary
injury (DONAT et al. 1998) (Fig. 10.10). GENTRY and
co-workers (1983) developed a system whereby the
face is divided into three groups of interconnected
struts in horizontal, sagittal and coronal planes.
This system allows information from the clinical
and radiological examinations to be analysed to
accurately represent the anatomic complexity of the
midfacial fracture pattern and their functional sig-
nificance.
 Facial Injury
Fig. 10.10. a Fracture right maxillary antrum involving tooth
socket and pterygoid plate. b Displaced fracture through naso-
ethmoidal block and maxilla. Extensive orbital emphysema. c
Fractures through nasoethmoidal complex and right orbital
floor. d Fracture through pterygoid plates
10.5.7.1
Maxillary (Le Fort Type)
These fractures were classified according to Le Fort
with regard to the horizontal level at which the frac-
ture crosses the mid face.
Le Fort type I fractures involve the lower third of the
maxilla, palate and pterygoid plates. The fracture
line runs above the apices of the teeth, separating
the maxilla from the alveolar rim.
Le Fort type II fractures cross the frontal process
of the maxilla and extend transversely across the
nasal bone, across the floor of the orbit and out
129
d
through the pterygoid plates into the pterygoma-
xillary fossa.
Le Fort type III fractures are essentially a type II frac-
ture with extension through the zygomatic arches,
thus resulting in dysjunction between the facial
skeleton and cranium. The face may be displaced
posteriorly and can cause obstruction of the nasal
and oral airway.
These fractures are often complex, involving a differ-
ent pattern of injury on each side. Splitting of the
 130 B. J. Fredericks

palate may occur (Fig. 10.11). Additional fractures
may be associated and skull base fractures may be
present in addition (CROCKETT et al. 1989). For this
reason the classification derived from the work of
GENTRY (GENTRY et al. 1983) has far greater utility
in clinical practice (DONAT et al. 1998).
10.5.7.2
Nasoethmoidal Complex Fractures
cal contrast, may help identify the site of leakage.
Displaced NOE fractures are usually reduced by
the same open reduction internal fixation techniques
as seen in adult injuries (POSNICK 1994). Lateral dis-
placement of the globes and intercanthal soft tissue
widening (SMITH 1973) may be identified due to
avulsion of the medial canthal ligament and associ-
ated bone fragment, which will require reduction and
fixation.

Naso-orbital ethmoidal (NOE) complex fractures

are rare in the under-S age group, but become
more common with development of the parana-
sal sinuses (POSNICK 1994). The incidence has
been increasing, associated with increasing sur-
vival after serious road traffic accidents, leading
to a higher prevalence of survivors with extensive
facial injury. NOE complex fractures consist of a
severe nasal fracture with involvement of the lac-
rimal bones and ethmoidal labyrinth. Classically
there is a widened flattened nasal bridge (Fig.
10.12) due to comminuted fracture of the nasal
bones (CROCKETT et al. 1989). The fractures are
often associated with other fractures including
those of the skull and maxillary region (Fig. 10.13).
There is a high association with ocular and neuro-
logical injuries. Midfacial fractures are associated
with a high prevalence of dural tears and the risk
of post-traumatic meningitis (O'BRIEN and READE
1984). Cerebrospinal fluid leaks are not infrequent,
and detailed CT, possibly with the use of intrathe-
10.5.8
Conclusion
Paediatric facial trauma differs from the spectrum
of adult disease. Minor facial trauma is common,
facial fractures are uncommon. There are specific
behavioural, developmental and aetiological fac-
tors affecting the incidence and type of fracture
seen in children. Special attention has to be paid to
the differences in behaviour and physiology of chil-
dren during stabilisation of the patient and diag-
nosis of facial injury. A multidisciplinary approach
is often required during clinical and radiological
assessment. Advances in imaging technology
(KREIPKE et al. 1984) and understanding of the
complexity of paediatric facial fractures has enabled
the involved surgical specialties to best determine
the requirements for surgery and subsequent reha-
bilitation (SHERICK et al. 1998; STEINBERG 1999).
Longitudinal clinical and radiological assessment

a b

Fig. ro.l1. a Complex middle-third facial injury. Lower axial CT shows fracture of the right maxilla adjacent to tooth bud and
splitting of the palate. b Rostral axial slice shows bilateral maxillary wall fractures. Fractures extend to the pterygoid plates.
There is fracture displacement of the nasal septum and the nasal airway is completely opacified. Extensive ethmoidal fractures
were present in addition
 Facial Injury 131

may be required to monitor facial growth with its

consequent effect upon cosmetic appearance and
facial function.

Acknowledgements. I would like to acknowledge the

help ofY. Rooney and R. McMillan with the prepara-
tion of this manuscript.

Fig. 10.12. OM view of complex nasoethmoidal injury with

impaction of the midface

a b
Fig. 10.13. a NOE fracture showing marked displacement and rotation of the nasal complex. b More posterior image shows
extensive fractures in the ethmoidal complex and displaced fracture through the left zygomaticofacial synchondrosis

Cawood JI, Stoelinga PJ (1990) Facial trauma. Int J Oral Maxil-

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Burm JS, Chunt CH, Oh SJ (1999) Pure orbital blowout frac-
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Crockett DM, Mungo RP, Thompson RE (1989) Maxillofacial
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Denny AD, Rosenberg MW, Larson DL (1993) Immediate
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Derdyn C, Persing, JA, Broaddus WC, et al (1990) Craniofacial
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sification according to skeletal support mechanisms. Arch
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Fox LA, Vannier MW, West OC, et al (1995) Diagnostic per-
formance of CT, MPR and 3DCT imaging in maxillofacial
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Gentry LR, Manor WF, Turski PA, et al (1983) High resolution
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Hayward JR, Scott RF (1993) Fractures of the mandibular con-
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Hopper KD, Sherman JL, Boal DK (1992) CT and MRI imaging
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11 Sinusitis, Including Imaging
for Functional Endoscopic Sinus Surgery
A. MACLENNAN

CONTENTS
ing features of sinusitis. The high prevalence of sinus
ILl Introduction 133 opacification in the paediatric population prevents
11.2 Normal Anatomy of Paranasal Sinus 133
11.2.1 Sinus Development and Pneumatisation 133 imaging being useful to make a positive diagnosis
11.2.2 Bony Anatomy 134 of sinusitis. Imaging has little role in uncomplicated
11.2.3 Ostiomeatal Complex 135 acute, recurrent or chronic sinusitis in children, but
11.2.4 Spheno-ethmoid Recess 135 has a vital role in those patients who require sur-
11.2.5 Anatomic Variations 137
gery for chronic rhinosinusitis or polyposis, or who
11.3 Functional Anatomy and Principle of FESS 137
11.3.1 Functional Anatomy 137 have an orbital or intracranial complication of acute
11.3.2 Functional Endoscopic Sinus Surgery 137 sinusitis or a postsurgical complication.
11.4 Clinical Diagnosis of Sinus Disease 138
ll.5 Radiological Methods in Sinus Disease 138
11.5.1 Plain Radiographs 138
11.5.2 CT Scans 139
11.5.3 MRI Scan 139 11.2
11.6 CT Sinus Protocols 140 Normal Anatomy of Paranasal Sinus
11.6.1 Rhinosinusitis for FESS 140
11.6.2 Orbital Cellulitis 142 11.2.1
11.7 Cystic Fibrosis and Sinonasal Polyposis 142
Sinus Development and Pneumatisation
ll.8 Complications of Acute Sinusitis 144
11.8.1 Orbital Cellulitis 144
11.8.2 Intracranial Complications 145 The maxillary sinus is present from the second
11.8.3 Mucocele 145 trimester of pregnancy and is the first sinus to
11.8.4 Osteomyelitis 146 develop (SCUDERI et al.1993; ISAACSON 1996; ZEIFER
11.9 Complications of FESS 146 2000). At birth, maxillary sinuses are rudimentary,
11.9.1 Recurrent Inflammatory Disease 146
11.9.2 Orbital Complications 147 lie medial to the orbit, and are partly or completely
11.9.3 Intracranial Complications 147 opacified. They may remain underdeveloped for the
ILl0 Conclusion 149 first few months of life but have generally enlarged to
References 149 lie below the medial orbital wall by the age of 1 year
(Fig. ILl). They grow progressively through child-
hood until the end of puberty, when facial growth
ceases. The sinuses typically reach the plane of the
11.1 hard palate by 9 years of age. Asymmetry in size and
Introduction shape, including unilateral hypoplasia, is common.
Ultimately, the maxillary sinuses are paired unilocu-
Upper respiratory tract symptoms are common in lar air spaces lying between orbit and hard palate.
childhood and have a variety of causes. This chapter The medial wall of the sinus also forms the lateral
reviews the development and anatomy of the parana- nasal wall. The infundibulum, or drainage ostium,
sal sinuses, the concepts underlying functional endo- lies high on the medial wall, close to the orbit.
scopic sinus surgery (FESS), and clinical and imag- The ethmoid sinuses are developed anteriorly at
birth (Fig. 11.2) (SCUDERI et al. 1993; ZEIFER 2000).
The air cells expand rapidly for the first 2 years of
A. MACLENNAN, FRCR, MRCP
Consultant Paediatric Radiologist, Department of Diagnostic life and then again just before puberty . There is
Imaging and Clinical Physics, Royal Hospital for Sick Children, progressive posterior pneumatisation, although the
Yorkhill, Glasgow, G3 8SJ, Scotland, UK posterior ethmoid sinus is usually not aerated before
 134
a b
Fig. Il.Ia,b. A 2-year-old boy undergoing CT for assessment of a nasal dermoid. The coronal scan (a) shows the development of
maxillary and anterior ethmoid sinuses. The axial scan (b) shows development of anterior and posterior ethmoid sinuses
Fig. Il.2. Axial CT scan of a 6-month-old girl showing develop-
ment of anterior ethmoid but no development of posterior
ethmoid sinuses
6 years of age. The posterior ethmoid air cells are
fewer and larger than anterior ethmoid air cells. The
process of pneumatisation includes progressive con-
vexity of the lateral sinus walls and progressive pneu-
matisation either within or outwith the ethmoid bone
leads to a number of anatomic variants. The ethmoid
is completely pneumatised by puberty.
Ultimately, the ethmoid sinus is a quadrilateral
structure made up of three to fifteen air cells bilater-
ally, separated by thin bony septa. Superiorly lies the
anterior cranial fossa floor with a dural covering. The
cribriform plate lies either side of the crista galli and
is perforated by multiple nerve slips of the olfactory
nerve. Laterally, the cribriform plate ascends to join
the ethmoid process of the frontal bone, which forms
A. Maclennan
the orbital roof. The orbits are lateral to the ethmoid
sinuses, the nose is inferior, frontal and sphenoid
sinuses lie anteriorly and posteriorly.
The sphenoid sinuses are tiny cavities at birth that
contain red marrow (SCUDERI et al. 1993; ZEIFER
2000). The marrow first becomes fatty and then
progressively pneumatises. Pneumatisation can be
seen as early as 2 years of age but generally has an
adult appearance by puberty. Ultimately the sphe-
noid sinuses are paired quadrilateral structures with
the pituitary and dura superiorly, the cavernous sinus
laterally, posterior ethmoid air cells anteriorly and
clivus posteriorly. Sphenoid aplasia is uncommon,
occurring in 1% of adult patients (EARWAKER 1993).
The frontal sinuses are extensions of the anterior
ethmoid air cells (ZEIFER 2000). They are not present
at birth but develop from the age of 2 years onwards
and are seen in the vertical portion of the frontal
bone by age 10 years. Growth continues until the end
of puberty. The extent of frontal sinus development
is the most varied of any of the sinuses. EARWAKER
(1993) found a 5% prevalence of aplasia and 4% prev-
alence of hypoplasia of frontal sinuses in adults.
11.2.2
Bony Anatomy
The bony anatomy of the sinuses and lateral nasal
wall is too complex to cover fully in this review.
The articles by ZINREICH et al. (1987) and MAFEE et
al. (1993) contain many illustrations of the relevant
anatomy, that by DAVIS et al. (1996) contains serial
coronal and axial sections of gross anatomy, and the
Sinusitis, Including Imaging for Functional Endoscopic Sinus Surgery
review by CHONG et al. (1998) addresses commonly
asked anatomical questions. The nose is divided by
a midline septum. Three shelf-like, mucosa-covered,
bony structures arise from the lateral nasal wall - the
inferior, middle and superior turbinates (conchae).
The inferior meatus lies under the inferior turbinate
bone and receives the nasolacrimal duct that drains
tears from the lacrimal sac. The middle meatus lies
under the middle turbinate and is part of the ostio-
meatal complex. The superior meatus lies under
the superior turbinate and receives drainage from
the posterior ethmoid air cells and spheno-ethmoid
recess.
11.2.3
Ostiomeatal Complex
The ostiomeatal complex (OMC) is the "eye of the
needle" through which frontal, anterior ethmoid and
maxillary sinuses drain (ZINREICH et al.1987; LAINE
and SMOKER 1992; MAFEE et al. 1993) (Fig. 11.3). It is
bounded laterally by the infundibulum of the maxil-
lary sinus, anteroinferiorly by the uncinate process,
superiorly by the orbital roof, Haller's cell, or eth-
moidal bulla, depending on the individual patient's
anatomy. The hiatus semilunaris is the comma-
shaped opening in the lateral nasal wall lying between
the uncinate process and the orbit/Haller's celli
ethmoidal bulla. This opens into the middle meatus,
Fig. 11.3. A 13-year-old boy showing the ostiomeatal complex
(OMC) bilaterally. The right OMC is normal. There is slight
mucosal thickening along the left OMC
135
which is the space inferior and lateral to the middle
turbinate. The OMC should always be visualised on
one or two sections of a standard coronal sinus CT.
11.2.4
Spheno-ethmoid Recess
The spheno-ethmoid recess is a shallow cleft between
the posterior wall of the posterior ethmoid air cells
and the anterior wall of the sphenoid sinus (Fig. 11.4).
It drains directly into the superior meatus. The sphe-
noid ostium opens directly into the spheno-ethmoid
recess, as do the individual ostia for the few large
posterior ethmoid air cells. It is not well seen on
coronal scans as it mostly lies in the coronal plane,
but is seen on parasagittal reconstructions or axial
scans.
Fig.l 1.4. A I6-year-old girl with a left sixth nerve palsy. There
is a left sphenoid polyp. The "tick" of the right spheno-eth-
moid recess is seen between postethmoid air cells and hemi-
sphenoid
11.2.5
Anatomic Variations
Our sinuses are as individual as our fingerprints. This
is partly due to varying patterns or degrees of pneu-
matisation and partly due to bony differences. Ana-
tomic variations are of disputed significance in the
pathogenesis of chronic sinusitis. Most studies con-
clude there is no connection between anatomic varia-
tions and chronic sinusitis (BOLGER et al. 1991; EAR-
WAKER 1993; WILLNER et al. 1997; JONES et al. 1997).
Indeed, WILLNER et al. (1997) found a decrease in
136
the number of areas of sinus disease with increas-
ing anatomic variations. Anatomic variations cannot,
however, be disregarded as they may predispose
the patients to a surgical complication, or unusual
air cells might be missed by a standard surgical
approach. The following descriptions are of the most
common variants. In general, anatomic variations are
neither as common or as developed in children as in
adults. Two large studies of adult patients (BOLGER
et al. 1991; EARWAKER 1993) found overall rates of
significant anatomic variants were 65-93%.
Septal deviation: Divergence of the septum from the
midline with associated deformities or asymmetries
of any or all of the adjacent conchae and nasal wall
structures. The prevalence is 18%-44% in adults and
10%-13% in children (WILLNER et al. 1997).
Septal ridge or spur: A focal bony protuberance from
the septum that mayor may not bridge the nasal
cavity by contacting the lateral nasal wall. Found in
34% of those with septal deviation but only 3% of
those without.
Paradoxical curvature of the middle turbinate: The
normal middle turbinate is convex medially. This can
be reversed so the turbinate is convex laterally. The
turbinate attachments remain the same. BOLGER et
al. (1991) found an overall prevalence of 26%. EAR-
WAKER (1993) found 17% of patients had a large par-
adoxical curvature and a further 11 % had a small
curvature. WILLNER et al. found a 23% prevalence.
Hypoplasia of middle turbinate: A small middle
turbinate is commonly seen with septal deviation
and/or a septal spur.
Atelectatic infundibulum: Lateral rotation of the
uncinate process to closely oppose the orbital wall
can be seen in patients with chronic maxillary atel-
ectasis. This probably represents the end result of
chronic sinus infection or longstanding obstruction
of the infundibulum rather than a predisposing
cause of sinus infection (KASS et al. 1997). In severe
cases enophthalmos may be present due to droop-
ing of the orbital floor. Over-resection of an unci-
nate process closely applied to the orbit during endo-
scopic surgery can cause orbital perforation.
Agger nasi air cells: These are the most anterior eth-
moid air cells which extend anterior to the nasal lac-
rimal duct to invade the medial aspect of the fron-
tal process of maxilla or the lacrimal bone. Preva-
A. Maclennan
lence is 10%-98% in adults, depending on definition
(BOLGER et al.1991), but only 20% in children (WILL-
NER et al. 1997).
Supraorbital ethmoid air cells: Ethmoid air cells can
extend into the orbital roof to lie adjacent or remote
from the frontal sinus. The prevalence is 8%.
Concha bullosa: Pneumatisation of part or the whole
of the middle turbinate can occur with or without
deformity of adjacent structures. Such deformities
can include deviation of the uncinate process, or
septal deviation. Concha bullosa may be unilateral,
bilateral but asymmetric, or bilaterally symmetric.
Prevalence is 55%, with deformity of the adjacent
turbinate in 37%.
Uncinate process pneumatisation: Probably due to
growth of agger nasi cells into the uncinate process.
Prevalence is 2.5%-6%
Haller's cells: Haller's cells are air cells related to
the inferomedial aspect of the orbit lying lateral to
the ethmoidal bulla. The prevalence is 20%-40% in
adults, 10%-35% in children. They may encroach
upon the infundibulum and would not be removed by
the operator during endoscopic sinus surgery unless
known about from CT, as they would be assumed at
nasal endoscopy to represent the orbital wall.
Onodi's cells: These represent posterior ethmoid
pneumatisation, which can surround the optic nerves
and overlap the sphenoid sinus laterally. They are
best seen on axial scans. The prevalence is 24% in
adults.
Sphenoid pneumatisation: The sphenoid has a com-
plex anatomy and both lesser and greater wing pneu-
matisation occurs. Anterolateral extension into the
lesser wing of sphenoid above the optic nerve occurs
in 5% of cases. Posterolateral extension into the
lesser wing and anterior clinoid process below the
optic nerve occurs in 13%. Pterygoid plate pneuma-
tisation occurs in 43% of adults.
Frontal sinus pneumatisation: This can include pneu-
matisation along the orbital roofs to the level of the
posterior ethmoids, seen in 11 %, and pneumatisation
of the crista galli, seen in 5%-7.5% of patients.
Maxillary sinus septa: These tend to be unilateral,
incomplete, lie anteriorly, and are found in only 2%
of patients.
Sinusitis, Including Imaging for Functional Endoscopic Sinus Surgery
Accessory ostia: Fifteen percent to 40% of adults have
fontanelles or accessory ostia in the medial wall of
the maxillary sinus. These are areas of natural bone
dehiscence, often covered by mucosa (MAFEE 1991).
11.3
Functional Anatomy and Principle of FESS
11.3.1
Functional Anatomy
The frontal sinus outflow tract is the inferior tapering
margin of the frontal sinus. It drains either directly
into the middle meatus or, occasionally, into the max-
illary infundibulum. The size and shape of the tract
is determined by local pneumatisation and it cannot
usually be followed on CT scans of children as it is
too small to resolve.
The maxillary sinus drains through the infundibu-
lum into the middle meatus. The 3-15 anterior eth-
moid air cells each have an individual ostium of
1-2 mm in diameter that connect and then drain
into the middle meatus. Individual ostia are too small
to resolve by CT. The spheno-ethmoid recess drains
the posterior ethmoid air cells and sphenoid sinus
directly into the superior meatus.
11.3.2
Functional Endoscopic Sinus Surgery
The classic surgical approach to chronic maxillary
sinusitis was to create a nasal-antral window low in
the maxillary sinus wall with stripping of the dis-
eased mucosa, in the belief that gravity would encour-
age drainage through a large inferiorly placed hole
and that mucosa, once diseased, did not return to
normal. Such fistulas were relatively ineffective. Sub-
sequent work has shown that the cilia lining a sinus
transport the mucus blanket towards the natural
ostium of the sinus irrespective of the site or size
of anatomically remote, surgically created defects
(MAFEE 1991). Functional endoscopic sinus surgery
(FESS) derives from this work showing the impor-
tance of patent natural ostia and an effective mucocil-
iary transport mechanism. The belief is that sinuses
remain healthy and aerated because of a continu-
ously replaced mucous blanket being propelled by
synchronised ciliary action towards natural ostia and
137
then swallowed in the pharynx. Sinus problems occur
if the natural ostium is blocked, if cilia are reduced
in number or in function, or if there is overproduc-
tion of mucus or viscid mucus. If drainage ceases, the
sinus becomes hypoxic and develops negative pres-
sure. This leads to vasodilatation, ciliary dysfunction
and stagnation of secretions and mucus gland dys-
function with hyperviscid secretions. Bacteria may
be drawn into the sinus during sniffing, causing sec-
ondary infection (WALD 1995).
FESS aims to encourage drainage by enlarging the
natural ostia, thereby allowing the cilia to re-establish
drainage of the sinus. Re-establishing drainage allows
the mucosa and the mucociliary transport mecha-
nism to return to normal. In FESS, only diseased
sinuses are treated and the operative procedure is
largely defined by the CT scan. Opening the OMC is
the main goal in most patients. The surgeon resects
the uncinate process and enlarges the infundibulum
of the maxillary sinus (ISAACSON 1996). Anterior eth-
moid air cells are removed if heavily diseased. Safe
anterior ethmoidectomy requires knowledge of the
appearance of lamina papyracea and ethmoid roofs
from the preoperative CT. MEDINA et al. (1997)
showed that the ethmoid roofs of children below 2
years old are lower than those in older children.
Frontal sinus disease is rarely problematic in young
children as the sinus is underdeveloped. Similarly,
posterior ethmoid and sphenoid surgery are less
commonly performed in children. Again, such sur-
gery requires detailed knowledge of the position of
the optic nerves and carotid arteries to avoid surgical
complications (CHONG et al. 1998) (Fig. U.s).
Fig. 11.5. A IO-year-old girl. The left optic nerve lies within
the well-pneumatised sinus. The axial scan (not reproduced)
confirms the soft tissue density mass was the optic nerve
138
11.4
Clinical Diagnosis of Sinus Disease
The diagnosis of acute and chronic sinusitis is dif-
ficult for the clinician because the symptoms are rel-
atively non-specific and can overlap with those of
upper respiratory tract infection (URTI), allergic
rhinitis, and adenoidal hypertrophy. Physical exam-
ination is usually unhelpful and there are no read-
ily available tests to confirm the diagnosis. Mouth
breathing, nasal obstruction, rhinorrhoea, snoring
and hyponasal speech are common symptoms in
childhood. Unfortunately there is no agreed defi-
nition of sinusitis in children, nor is there agree-
ment among authors of the time intervals for classify-
ing into acute, subacute and chronic sinusitis (JONES
1999). We still do not understand all the factors
leading to sinusitis, and "the primacy of infection
as a pathophysiological explanation for continuing
inflammation of the paranasal sinuses is quite
unlikely" (WALD 1995). It is likely that the immaturity
of the child's immune system plays a larger part in
sinusitis (JONES 1999).
URTIs manifest by recurrent episodes of fever,
malaise, cough and mucopurulent nasal discharge
and are common; 2- to 5-year-old children average
6-8 episodes per year (FIREMAN 1992). Although
symptoms usually improve within 10 days, 13% of
1- to 3-year-olds will have symptoms for more than
15 days. Children in day care tend to have more
URTIs which are of longer duration (WALD et al.
1991 ).
Allergic rhinitis, manifest by sneezing, itching eyes,
seasonal or protracted course of symptoms and per-
sonal or family history of atopy, occurs in 10%-20%
of children and has become more common over the
past 50 years. Many children with seasonal allergic
rhinitis or hay fever have background perennial rhi-
nitis due to exposure due to non-seasonal allergens
such as house dust mites (COOK and NISHIOKA
1996). Many children with recurrent or chronic sinus-
itis have positive antibodies to one or more of the
common allergens. Thus, allergy probably contrib-
utes to the clinical presentation of most children with
chronic rhinosinusitis.
Adenoidal hypertrophy is common, although
symptoms of mouth breathing may also be due to
turbinate hypertrophy in allergic rhinitis. Obstruc-
tive sleep apnoea should be considered and investi-
gated for if the child is a snorer and stops breathing
for more than 10 s at a time. Unilateral prolonged dis-
charge and excoriation of the nostril should suggest
the presence of a foreign body.
A. Maclennan
Five percent to 10% of acute URTI cases may
be complicated by acute sinusitis (FIREMAN 1992).
AITKEN and TAYLOR (1998) found that 9.3% of chil-
dren aged 1-5 years old had prolonged symptoms of
day time cough and nasal congestion suggesting a
sinusitis. Persistent and/or severe symptoms of URTI
with either a persistent cough or nasal discharge
should suggest superimposed acute sinusitis (WALD
1995; ISAACSON 1996). Facial pain and headache are
less often seen in children than in adults. Persistent
fever, purulent nasal discharge and unilateral or bilat-
eral facial pain suggests a maxillary empyema which
may require antral puncture and drainage (JONES
1994).
The hallmark of chronic rhinosinusitis is a long
history of blocked and runny nose in a mouth-
breathing child (WALD 1995; JONES 1999). The colour
of the nasal discharge is usually unhelpful in the
diagnosis. Children commonly complain of a morn-
ing sore throat or dry and cracked lips due to over-
night mouth breathing. Intermittent fever and halito-
sis are common, as are general symptoms of tiredness,
irritability, poor concentration and sleeping. Physical
examination is usually unhelpful, although microen-
doscopy can aid the physical examination.
11.5
Radiological Methods in Sinus Disease
The traditional role of radiology is to confirm or
make diagnoses. This breaks down in sinusitis as
there is such a high prevalence of sinus abnormality
and opacification in the paediatric population that
one in three or four normal children will have some
sinus opacification and almost all will have if they
have URTI symptoms. This section revises the studies
showing this high prevalence.
11.5.1
Plain Radiograph
Plain radiographs are quickly and easily performed
and are widely available. Unfortunately they have
poor sensitivity and specificityfor sinusitis: 30%-50%
of sinus radiographs show some abnormality in
asymptomatic children (KOVATCH et al. 1984; DIA-
MENT et al. 1987) or in asthmatic children (RACHE-
LEFSKY 1978). KOVATCH et al. (1984) also found a high
prevalence of abnormalities in those children who
had evidence of recent respiratory tract infection
Sinusitis, Including Imaging for Functional Endoscopic Sinus Surgery
from history or physical examination. These opaci-
ties may persist for 1-2 weeks after the infection.
The correlation between plain radiographs and CT
is poor, with 40%-46% of those with a normal plain
radiograph having abnormal CT scans and 35%-36%
of those with abnormal radiographs having normal
CT scans (McALISTER et al. 1989; LAZAR et al. 1992).
Plain sinus radiographs are not completely valueless
but have three indications and should be limited to
requests by an ENT surgeon:
1. A single occipitomental (OM) view or lateral view
can be used to look for a radio-opaque foreign
body:
2. A single OM view can be performed to confirm
maxillary sinusitis opacification in a patient with
suspected maxillary empyema who is to undergo
antral lavage. The radiograph, in this setting, is
not used to make the diagnosis - the ENT sur-
geon must have already decided that antral lavage
is indicated clinically - but to confirm that there is
an abnormality prior to puncture (JONES 1994).
3. A lateral view of the posterior nasopharynx can
confirm adenoidal hypertrophy in children with
suspected obstructive sleep apnoea who cannot be
adequately examined.
11.5.2
CTScan
CT gives excellent pictures of the sinuses but suf-
fers the same problem as plain radiographs in that
40%-50% of asymptomatic children have some sinus
opacification or mucosal thickening (Fig. 11.6). The
case series showing prevalence of sinus abnormali-
Fig.ll.6. CT scan of the orbits of a 7-year-old boy performed
for a suspected foreign body. There is gross anterior ethmoid
and maxillary sinus opacification. The child had no ENT
symptoms
139
ties are from groups of children being scanned for
suspected intracranial, orbital or mastoid disease,
not for sinusitis. GLASIER et al. (1989) looked at 100
patients less than 1 year old. Maxillary sinus hypo-
plasia, defined as the absence of any discernible sinus
cavity, occurred in 32% of those less than 2 months
old. Fifty-nine percent of normal infants had some
maxillary sinus opacification and 39% some ethmoid
sinus opacification. The prevalence of maxillary sinus
opacification rose to 87% and ethmoid sinus opaci-
fication to 67% if there were URTI symptoms. DIA-
MENT et al. (1987) found maxillary sinus opacifica-
tion in up to 65% of the paediatric population and
ethmoid sinus opacification in 55%. Sphenoid sinus
opacification occurred in 16% and was usually mini-
mal or mild. The prevalence of sinus opacification
was greatest in those aged 1 to 2 years. These authors
did not check whether the children had upper respi-
ratory tract symptoms. LESSERSON et al. (1994) found
an overall prevalence of 41 % of mucosal thickening
or sinus opacification of one or more sinuses in
children over 18 months. The prevalences of indi-
vidual sinus opacification were 39% maxillary sinus,
31 % ethmoid and 17% sphenoid. These findings are
broadly similar to the prevalences found in adults:
42.5% (HAVAS et al. 1988),42% (BOLGER et al. 1991),
27% (FLINN et al. 1994) and 17% (JONES et al. 1997).
Even the common cold causes opacification of sinus
in up to 70% of adults (GWALTNEY et al. 1994). The
prevalence of mucosal thickening and sinus opacifi-
cation rises to 60%-80% in children with chronic
symptoms of rhinosinusitis (McALISTER et al. 1989;
VAN DER VEKEN et al.1990; APRIL et al.1993; NGUYEN
et al. 1993; GARCIA et al. 1994). Other problems with
CT include cost, availability, radiation dose and dif-
ficulty in scanning young children without sedation
or general anaesthesia.
11.5.3
MRI Scan
As with CT, most studies of the prevalence of
sinus opacification have been carried out in patients
attending for investigation of neurological disease.
Three studies in adults show a prevalence of sinus
abnormalities and opacification of32%-47% (COOKE
and HADLEY 1991; IWABUCHI et al. 1997; TARP et
al. 2000) The prevalence increases if there are con-
comitant upper respiratory tract symptoms or if it
is winter.
GORDTS et al. (1997) showed an overall prevalence
of sinus abnormalities of 45% in a group of paediat-
140
ric patients with suspected neurological disease. The
prevalence was greater in children less than 2 years
old (70%) compared to over 7 years old (40%).
Posterior ethmoid and sphenoid disease were more
common than in adults. The prevalence of sinus
opacification was increased by a history of nasal
obstruction (50%) or recent URTI (80%) as well as
when bilateral mucosal swelling (80%) or purulent
secretions (100%) were seen on anterior rhinoscopy
at the time of the scan.
MANNING et al. (1996) showed that 55% of patients
had some sinus abnormality and 33% had pro-
nounced mucosal thickening or an air-fluid level.
Sixty-two percent had a history or physical findings
consistent with upper respiratory inflammatory pro-
cess. Younger patients were especially likely to have
imaging abnormality with recent or current URTI.
MRI studies suffer the same problem as CT, namely
a high prevalence of sinus abnormality or opacifi-
cation in the general population. MRI also does not
show cortical bone, so it is not as useful to the sur-
geon as CT for planning FESS. MRI is radiation-free
but is more expensive, less available and more intimi-
dating to the patient than CT. It is the most sensitive
test for showing intracranial complications of sinus-
itis, and allows diagnosis of venous thrombosis with-
out intravenous contrast.
11.6
CT Sinus Protocols
11.6.1
Rhinosinusitis for FESS
Low-dose coronal CT scans provide the ENT surgeon
with a roadmap of the sinuses to plan the extent
of FESS and aid the surgeon during the operation
(BABBEL et al. 1991). However, it must be stressed
that CT is not a useful diagnostic test because of the
high prevalence of sinus abnormalities in the general
population. Therefore, CT should only be performed
as a final surgical planning step when the surgeon
has already decided to operate. For this reason, the
patient must have been on maximum medical ther-
apy for a prolonged period. The nature and dura-
tion of the medical treatment will vary depending
on the ENT surgeon, but it is essential that all revers-
ible sinus opacification is eliminated. Typically, the
patient will have had at least 6 weeks of topical nasal
steroid with or without antihistamines or deconges-
A. Maclennan
tants. The patient may be given a course of antibiotics
which finish as the scan is being performed. A sym-
pathomimetic nasal spray or drops are given 10-15
min prior to the scan and the patient is encouraged
to blow his or her nose vigorously.
Ideally, the patient is placed prone with head
hyperextended for direct coronal imaging. This allows
fluid in the maxillary infundibulum to drain into
the sinus. The gantry should be angled perpendic-
ular to the hard palate, although true coronal imag-
ing is unnecessary. Aligning to avoid dental amalgam
is unnecessary. Scan should be from anterior frontal
sinus to posterior sphenoid sinus in 5-mm contigu-
ous sections. Slice thickness may be reduced to 1.5
or 3 mm at the OMC. Generally 120 kVp is used.
The mAs setting should be as low as the scanner
will allow, and this is typically 30-40 mAs (Fig. 11.7).
Tissue discrimination, which is essentially limited to
air versus soft tissue versus bone, is perfectly ade-
quate at this setting (MACLENNAN 1995; KEARNEY et
aI.1997). The dose to the lens is approximately 5 mGy,
which is a tenth of the dose from a 200-mAs scan
(MACLENNAN 1995). The images are post-processed
on bone algorithm to maximise edge enhancement.
The images are enlarged so that only the sinuses are
visible and the scans printed onto a single sheet of
film. It is vital, however, for the radiologist to check
the original images for intracranial abnormality such
as subdural haematomas, hydrocephalus or intracra-
nial tumours (HEALY 1994). Generally, a single set
of images on window width 2000-4000 and centre
200-400 is all that is required (Fig. 11.8). The set-
tings should be agreed with the ENT surgeon since
the scan is to function as the surgical road map. Axial
3-mm contiguous sections are performed through
the ethmoid and sphenoid sinuses if the surgeon
plans sphenoid surgery. This allows better visuali-
sation of the position of carotid arteries and optic
nerves.
BABBEL et al. (1992) described five patterns of dis-
ease in adults with chronic rhinosinusitis:
1. Infundibular. There is opacification of only the
maxillary sinus, due to block of the maxillary
infundibulum (26%).
2. Ostiomeatal unit. There is opacification of the
ipsilateral frontal sinus, anterior ethmoids and
maxillary sinus due to block of the ostiomeatal
unit (25%).
3. Sphenoethmoid recess. There is opacification of
the ipsilateral posterior ethmoid and hemisphe-
noid (6%).
4. Sinonasal polyposis (10%).
 Sinusitis, Including Imaging for Functional Endoscopic Sinus Surgery 141

Fig. 11.7a, b. Two scans from different adult patients scanned

at 30 mAs. The scan in a shows adequate diagnostic quality
despite dental artefact. The scan in b shows a maxillary sinus
3 fluid level

a b
Fig. 11.83, b. The same 5-mm slice from a coronal CT of the sinuses. The scan in a is printed at window 500 and centre 35. The
scan in b is printed at window 4000 and centre 250

5. Sporadic (or unclassifiable). This includes any
findings not covered by the other four types and
postoperative findings (24%) of cases.
The radiological report should include an account of
the extent of sinus pneumatisation and which sinuses
are diseased. The OMC should be described if there is a
local anatomical variant that may make middle meatal
antrostomy difficult or need a variation of surgical tech-
nique to prevent recurrent disease (Mafee 1991). Partic-
ular attention should be given to the height and shape of
ethmoid roofs and integrity of the lamina papyracea for
planning anterior ethmoidectomy (Chong et al. 1998);
likewise to the position of optic nerves and carotid
arteries for planning posterior ethmoidectomy or sphe-
noidotomy (Chong et al. 1998).
142
11.6.2
Orbital Cellulitis
Low-dose FESS scans are inadequate for investigating
a suspected orbital cellulitis. Such patients require
high-resolution axial and coronal imaging of the
orbits using 3-mm contiguous sections. The axial sec-
tions should be parallel to the hard palate, begin
below the orbital floor and continue to above the
orbital roof. The brain should then be covered by
contiguous 10-mm axial sections to the vertex. The
coronal scans should extend from midfrontal to mid-
sphenoid sinus. The patient should receive intrave-
nous contrast medium 2 mllkg to a maximum of 100
ml. The scan requires a high radiation dose as soft
tissue discrimination is vital. The mAs setting is left
at 200-300 mAs depending on scanner settings.
Direct coronal images are important to define
orbital roof subperiosteal abscesses or anterior cranial
fossa floor empyemas. LANGHAM-BROWN and RHYS-
WILLIAMS (1989) showed that a third of abscesses
would have been missed without the coronal sec-
tions. Coronal sections can be reconstructed from a
spiral CT volume in the axial plane (1.5 mm slice
thickness, pitch 1.5 reconstructed at 1.5-mm inter-
vals). If axial images are normal in an unsedated
child, and the child would require general anaesthe-
sia to obtain direct coronal scans, the ENT surgeon
should be contacted to decide whether to continue
with medical management and observation, or to
proceed to a scan under general anaesthesia. The
scan should be printed or viewed on several win-
dows: 4000/400 allows good visualisation of bone
from soft tissue and air and 100/40 allows good visu-
alisation of the brain; while 400/40 is vital to ensure
that a subtle subdural empyema is not missed due
to masking by the skull vault on a narrower window
setting. Filling defects due to thrombus within the
venous sinuses are also best seen on this setting.
11.7
Cystic Fibrosis and Sinonasal Polyposis
Cystic fibrosis (CF) is a multisystem autosomal reces-
sive disease affecting 1 in 2000 of the population.
The common clinical presentations are meconium
peritonitis or ileus in a neonate, or recurrent chest
infections or failure to thrive in a child. Less common
presentations include recurrent rectal prolapse,
pancreatitis, cirrhosis, sterility, or sinonasal pol-
yposis. The diagnosis of CF is confirmed by proving
A. Maclennan
increased concentrations of sodium and chloride in
an adequate volume of sweat. The chloride is nor-
mally slightly higher than the sodium concentration
and both are above 70 mmolll. The diagnosis can
also be confirmed by demonstrating that the patient
has two genes known to be responsible for CF. Occa-
sionally, sinus CT is helpful in investigating a child
suspected of CF if sweat tests give equivocal results
and the patient only has one of the common genes.
Genetic diagnosis is not completely straightforward
as the carriage rate of common genes is approxi-
mately 1:20; almost 50 genes are now known, and only
the common genes are routinely tested for. In such a
patient, a normal sinus CT is strong evidence against
the diagnosis of CF. Several studies claim sinus opaci-
fication is a ubiquitous feature of CF (NISHIOKA and
COOK 1996), and APRIL (1999) claims that over 99%
of patients with CF develop chronic sinusitis. How-
ever, in two case series of sinus CT in patients with
proven CF, lout of 19 (GENTILE and ISAACSON 1996)
and lout of 70 (NISHIOKA et al. 1996) patients had
clear sinuses.
Sinonasal polyposis is the commonest form
of sinusitis in CF (GENTILE and ISAACSON 1996)
(Fig. 11.9). TRIGLIA and NICOLLAS (1997) looked
at 46 children who underwent FESS for polyposis.
Polyps were isolated in 14 patients, associated with
asthma in 5 and due to CF in 27 patients. CF is the
commonest but not the exclusive cause of sinonasal
polyposis in childhood. "Medical" polypectomy with
steroids can cause dramatic shrinkage of polyps, but
these will usually regrow after therapy is stopped.
Surgery can involve simple polypectomy or, increas-
Fig. 11.9. A 12-year-old boy with sinonasal polyposis and
cystic fibrosis (CF) showing right maxillary hypoplasia. There
is widening of the left infundibulum due to polyposis
Sinusitis, Including Imaging for Functional Endoscopic Sinus Surgery 143

ingly, FESS. Sinus CT prior to FESS is vital, as patients

with CF show a number of common anatomic vari-
ants and any previous surgery increases the chance of
complications of FESS because of surgical alteration
of anatomy and possible breaching of normal sinus
boundaries. It must be remembered that a soft tissue
mass and a break in the skull base in any patient can
be due to an encephalocele. Massive polyposis pre-
disposes to failure of FESS and a need for revision
surgery (APRIL 1999). It also predisposes to ethmoid
mucoceles (GENTILE and ISAACSON 1996).
NISHIOKA et al. (1996) reported 70 CF patients who
had sinus CT as part of a CF wellness programme.
a
They found a common triad of abnormalities: frontal
sinus agenesis, medial deviation of the lateral nasal
wall, and major maxillo-ethmoid opacification. Fron-
tal sinus agenesis was present in 63% of their group
compared to 5%-9% of historical controls. This is
only a useful finding in older children or adolescents
as the frontal sinus is the last to develop. Medial
deviation of the lateral nasal wall was only found
in CF patients. It is diagnosed if the lateral nasal
wall extends more medially than halfway between
a line dropped from the lamina papyracea and the
midline nasal septum. This finding and uncinate
process resorption or demineralisation were seen in
three other studies (APRIL et al. 1993; KIM et al. 1997;
BIRHAYE et al. 1997). The appearance of the uncinate
b
process may simply be due to deviation and rotation
by the expanded lateral nasal wall rather than true Fig. 11.l0a, b. A 7-year-old boy with sinonasal polyposis and
demineralisation or reabsorption (NISHIOKA et al. CF. The scan in a is printed at window 4000, centre 400. The
scan in b shows increased attenuation of the maxillary sinus
1996; NISHIOKA and COOK 1996). There remains
contents at window 500, centre 35
debate amongst these authors whether the lateral
nasal wall expansion is due to a maxillary mucocele,
as these expansions are generally well tolerated apart intraoperative findings were of pus-lined mucosal
from a feeling of nasal obstruction. BIRHAYE et al. polyps. KIM et al. (1997) also found reduced volume
(1997) suggest the term "pseudomucocele", noting of maxillary sinuses in CF patients compared to
that the lateral nasal wall expansion tends to lessen asymptomatic controls and patients with chronic
with age. sinusitis.
Non-polyposis maxillo-ethmoidal opacification
is a less common pattern of CF sinopathy than pol-
yposis. Although the sinus opacification in non-pol-
yposis patients is usually more severe than in non- 11.8
CF patients with chronic sinusitis, (APRIL et al. 1993; Complications of Acute Sinusitis
NISHIOKA et al. 1996), it may mimic non-CF sinusitis
patterns (GENTILE and ISAACSON 1996). APRIL et al. 11.8.1
(1993) comment that many of the opaque maxillary Orbital Cellulitis
sinus contents of CF patients show increased attenua-
tion on soft tissue windows. The specimens at surgery A fevered child with a puffy erythematous eyelid
were negative for fungal hyphae so the reason for this and proptosis is a medical emergency that requires
remains unclear. It may represent subtle calcification urgent clinical assessment by an ophthalmologist
or inspissated secretions (Fig. 11.10). BIRHAYE et al. and ENT surgeon. Orbital infection can be either
(1997) suggest the term "mucopyosinusitis" as their preseptal or postseptal. The septum is a reflection
144 A. Maclennan

of the periosteum of the bony orbit onto the tarsal structure along one of the orbital walls, usually in
plate of the eyelids. This provides a relative barrier continuity with an opacified sinus (Fig. 1Ll2). There
to spread of infection, so preseptal cellulitis refers to is commonly thickening of the adjacent extraocular
an inflammatory swelling of the eyelids and cheek muscle, though with a preserved fat line between the
but with normal intraorbital content. A postseptal collection and the muscle (ZIMMERMAN and BILA-
or orbital cellulitis reflects inflammation within the NIUK 1980; TOWBIN et al.1986). Rupture of a subperi-
orbit. Postseptal cellulitis can be extraconal if outwith osteal abscess can cause a retrobulbar orbital abscess.
the extraocular muscles or intraconal if within the Finally, cavernous sinus thrombosis reflects infection
extraocular muscles (TOWBIN et al. 1986). Patients having crossed into the central nervous system.
typically present with fever, malaise, irritability and There are no good data on the incidence of acute
a tense swollen eyelid with or without purulent dis- orbital infection due to sinusitis, as most reviews
charge. are case series (ZIMMERMAN and BILANIUK 1980;
The hallmark of postseptal cellulitis or abscess is TOWBIN et al. 1986; SWIFT and CHARLTON 1990;
proptosis (LESSNER and STERN 1992). Proptosis and SAMAD and RIDING 1991; HYTONEN et al. 2000). The
decreased or painful ocular movements along with authors agree that postseptal infection is uncommon
an afferent pupillary defect (Marcus Gunn pupil) or but underlying sinusitis is responsible for over half of
decreased colour appreciation are all signs of raised such infections. Postseptal infection can occur within
intraocular pressure and impending blindness. The the first 2 months of life (MURRAY et al. 2000).
mechanism of blindness in orbital cellulitis may be
compression by cellulitis or abscess because of gen-
eralised raised intraorbital pressure, septic optic neu-
ritis, or embolic or thrombotic lesions in the vascular
supply of the optic nerve retina or choroid. Patients
with orbital cellulitis should be admitted for paren-
teral antibiotic treatment and should undergo CT
scanning immediately if there is clinical suspicion of
raised intraorbital pressure or an intracranial compli-
cation of sinusitis. Otherwise, it is acceptable to wait
for 24-36 h after administration of parenteral anti-
biotics and only scan if the patient shows no clinical
improvement (UZCATEGUI et al. 1998). CHANDLER et
al. (1970) offered the most widely accepted classifica-
tion of orbital complications of sinusitis:
Fig. 1I.1I. A 4-year-old girl with preseptal cellulitis and an
I. Inflammatory oedema. eyelid abscess which was drained the following day. There is
II. Orbital cellulitis. no proptosis and underlying sinuses are clear
III. Subperiosteal abscess.
IV. Orbital abscess.
V. Cavernous sinus thrombosis.

The most common complication of sinusitis is

oedema-preseptal cellulitis (SWIFT and CHARLTON
1990; SAMAD and RIDING 1991; STANKIEWICZ et al.
1996; UZCATEGUI et al. 1998). Swelling of the eyelid
and cheek and inflammatory stranding in the sub-
cutaneous fat are seen, but no abnormality of the
orbital contents (Fig. ILl 1). Eyelid abscesses can
occur in preseptal infection (LESSNER and STERN
1992). Orbital cellulitis, as defined by CHANDLER
et al. (l970), reflects inflammatory swelling of the
orbital content with increased attenuation of retro-
Fig. 11.12. A 9-year-old boy with proptosis and fever. The eth-
bulbar fat but without a frank phlegmon or abscess. moid is opacified and there is a ring-enhancing subperiosteal
Subperiosteal abscess is diagnosed if there is a abscess immediately adjacent to it. This patient was success-
fluid density or a rim-enhancing or gas-containing fully managed conservatively
 Sinusitis, Including Imaging for Functional Endoscopic Sinus Surgery 145

11.8.2
Intracranial Complications

Extra-axial collections of pus may occur in the

extradural or subdural space. Extradural (or epidu-
ral) abscess are particularly likely to occur from a
frontal sinusitis, and associated frontal osteomyeli-
tis is often present (LERNER et al. 1995; STANKIE-
WICZ et al. 1996; GALLAGHER et al. 1998). Pus may
remain confined to the extradural space or may
rupture into the subdural space, where it can travel
more widely. An extradural abscess is diagnosed by
a lentiform, fluid-density, rim-enhancing collection
lying along the inner table of, usually, the frontal
bone. Subdural abscess or empyema is diagnosed
by a fluid-density, rim-enhancing collection paral-
leling the convexity of the vault and/or extending
as a parafalcine collection (Fig. 11.13). Cerebritis
is diagnosed by a low-density area of focal oedema
with no enhancement often adjacent to an opaque
sinus. A brain abscess is diagnosed if there is ring
enhancement (Fig. 11.14). Fig. 1I.14. A 16-year-old boy with a seizure and mild symp-
toms of upper respiratory tract infection. The ethmoid and
Cavernous sinus and superior sagittal sinus sphenoid sinuses (not shown) were completely opacified.
thrombosis can occur due to direct extension There is a large right posterior frontal abscess. Pus was
from ethmoid or sphenoid sinusitis or retrograde drained at surgery

Fig.lI.13a, b. A 7-year-old boy treated medically for 3 days for acute sinusitis. A scan on admission was normal. The scan a
shows a thin left frontal subdural empyema. The scan in b shows a high parafalcine subdural empyema. Frank pus was drained
at surgery
 146 A. Maclennan

spread of a septic thrombophlebitis. Patients may 11.8.3

present obtunded with cranial nerve palsies. An
expanded superior ophthalmic vein may show fill-
ing defects due to thrombosis if there is orbital or
frontal thrombophlebitis. The cavernous sinus is
expanded with focal or tramline filling defects. A
"D" sign may be present within the superior sagittal
sinus (Fig. 11.15). Thin-section, high-dose, intra-
venous-contrast-enhanced CT or MR venography
are the best non-invasive methods for diagnosing
venous thrombosis. Deep white matter haemor-
rhagic infarcts are often a clue to intracranial sinus
thrombosis.
Mucocele
A mucocele is the commonest complication of
chronic sinusitis (STANKIEWICZ et al. 1996) and is
the commonest cause of sinus expansion. Muco-
celes can be due to sinus obstruction by inflam-
mation, previous trauma, including surgery, or
tumour. The prevalence varies according to the
sinus: frontal 60%, ethmoid 30% and maxillary
10%. Sphenoid mucoceles are rare. CT shows a
low-attenuation mass filling the sinus and expand-
ing the sinus wall. On MRI, the signal intensities

Fig. 1I.lSa, b. A 6-year-

old girl with acute
sinusitis, drowsiness and
fever. The scan in a shows
tramline filling defects
within the transverse
and straight sinus. The
scan in b shows a "delta"
sign within the posterior
b superior sagittal sinus
Sinusitis, Including Imaging for Functional Endoscopic Sinus Surgery 147

vary on Tl- and T2-weighted imaging depending

on the concentrations of water, protein and mucus.
Calcification may return no signal. An enhancing
rim paralleling the sinus walls after intravenous
contrast suggests a mucopyocele or infection of the
mucocele. Frontal and frontoethmoidal mucoceles
can cause proptosis (Fig. 11.16). Sphenoid muco-
celes can cause neurological or ophthalmological
symptoms.

11.8.4
Osteomyelitis

Frontal osteomyelitis may occur because a septic

Fig. 11.16. An 18-year-old man with previous facial recon-
thrombophlebitis within the valveless diploic veins
struction for hypertelorism. There is a frontal soft tissue mass
causes marrow infarction and infection. A Pott's expanding the anterior aspect of the right frontal sinus with
puffy tumour is a subgaleal, frontal abscess associ- destruction of the anterior sinus wall. This was confirmed as
ated with frontal sinusitis and frontal osteomyelitis. a mucocele at surgery
The name reflects the boggy mass that is palpable
over the forehead. An epidural abscess often co-
exists under the frontal osteomyelitis (STANKIEWITZ
et al. 1996; ZEIFER 2000).

11.9
Complications of FESS

11.9.1
Recurrent Inflammatory Disease

Recurrent inflammatory disease reqUirIng revi-

sion FESS affects 10%-18% of those previously
operated upon (PARSONS et al. 1996). The causes
of failure are varied and can be classified as asso-
ciated systemic disorders, underlying anatomic
abnormalities, failure in general management and
failure of surgical technique. Systemic disorders
include underlying allergies, asthma, immune
deficiency, ciliary dysmotility and gastro-oesopha-
geal reflux. Anatomic abnormalities that predispose
to failure generally involve structures which may
compromise the ostiomeatal complex including
concha bullosa, uncinate process hypoplasia, devi-
ated nasal septum, septal spurs and Haller's cells.
Failure in general management includes continu-
ing smoking or exposure to avoidable allergens.
Problems with surgical technique may be due to b
inadequate clearance of diseased cells such as in
Fig. n.l? a A 17-year-old man with recurrent symptoms
an incomplete ethmoidectomy (Fig. 11.17), over- following anterior ethmoidectomy. b Repeat CT scan shows
resection of mucosa causing synechiae, or failure persistent disease due to incomplete removal of anterior
to appreciate underlying anatomy causing a missed ethmoid cells
148 A. Maclennan

ostium sequence. Synechiae or adhesions are seen
in 4%-8% of patients following sinus surgery, but
not all patients are symptomatic. Typically, adhe-
sions form between the middle turbinate and
lateral nasal wall or inferior turbinate and septum
(HUDGINS 1993). Frontal recess stenosis is a recog-
nised complication of clearance of agger nasi cells
caused by postsurgical fibrosis or adhesions. PAR-
SONS et al. (1996) state that, in their experience,
the missed ostium sequence is the commonest
cause for revision FESS. Anatomically, this is due
to inadequate surgical removal of the most anterior
part of the uncinate process, so the surgeon does
not identify the native middle meatus, and thus
the middle meatus antrostomy does not include
the native ostium. CT of such patients shows the
presence of an infundibulum because of incomplete
removal of the uncinate process. Finally, recurrent
sinonasal polyposis may close natural ostia or
antrostomies.
11.9.2
Orbital Complications
with persisting clear rhinorrhoea, the first question
should be: Is it CSF? If CSF rhinorrhoea is proven,
a thin-section coronal non-contrast-enhanced CT
scan may show a new defect in the anterior skull
base which is assumed to be the area of leak (LLOYD
et al. 1994). A contrast-enhanced cisternogram is
performed if the non-contrast scan is inconclusive.
The contrast from a lumbar myelogram (adult dose
5 ml Omnipaque 300) is "run-up" to the skull base
and the same CT protocol is followed as for the
non-contrast study. The patient must be scanned
prone and with head hyperextended. The CSF leak
is shown by the dripping of contrast into the sinuses
(HUDGINS et al. 1992). Intracranial injury is rare but
includes cerebritis, haematoma (Fig. 11.18), abscess,
pneumocephalus (Fig. 11.19) or pseudoaneurysms
of anterior cerebral arteries. Haemorrhage from the
internal carotid arteries at the level of the skull base
can occur if the bony covering of the artery is dehis-
cent or if the intersphenoid septum deviates from the
midline and inserts directly on the lateral sphenoid
wall at the site of the internal carotid artery. A surgi-
cally created fracture of this septum can lacerate the
artery.

Orbital injury includes orbital haematoma, abscess,

emphysema, and injury to the naso-Iacrimal duct,
extraocular muscles or optic nerve (HUDGINS 1993).
The surgeon normally suspects the orbit has been
entered at FESS if fat is removed instead of sinus
mucosa. Previous sinus surgery or blow-out frac-
tures predispose to orbital damage at FESS, as the
bony margins of the orbits are already breached.
Optic nerve injury can occur either due to acutely
raised intraorbital pressure because of arterial bleed-
ing or abscess, or direct transection of the nerve by
the surgeon. The optic nerve is particularly at risk
of transection if it is surrounded by Onodi cells or
an aerated anterior clinoid process, if it or passes
directly through the sphenoid sinus.

11.9.3
Intracranial Complications

Cerebrospinal fluid (CSF) leak usually occurs at

the cribriform plate or posterior ethmoid roof. It is
generally seen and dealt with by the surgeon at the
time of operation (HUDGINS et al. 1992; HUDGINS
Fig. 11.18. A 22-year-old man with severe headache the day
1993). A variety of tissues can be used to repair or after anterior ethmoidectomy. There is a subfrontal haema-
pack a CSF leak. If a patient presents after FESS toma from penetration of the cribriform plate
Sinusitis, Including Imaging for Functional Endoscopic Sinus Surgery
Fig. 11.19. A 31-year-old man with a seizure 2 days after ante-
rior ethmoidectomy. There is a bubble of intracranial air from
perforation of the cribriform plate
11.10
Conclusion
Symptoms attributable to sinusitis or rhinosinusitis
are extremely common in childhood. There is, how-
ever, no agreed definition of sinusitis. The diagnosis
is complicated by the overlap of clinical signs and
symptoms with those of other conditions and the
high prevalence of sinus opacification in asymptom-
atic children and as "incidental findings" on sinus
radiographs or CT or MRI studies. Fortunately, all
children tend to grow out of recurrent upper respira-
tory tract infections, adenoidal hypertrophy, allergic
rhinitis and sinusitis by the age of 8-10 years. Imag-
ing has no role to play in children with uncomplicated
acute, recurrent or chronic symptoms. They require
a conservative "wait and see" treatment policy and,
above all, treatment should be safe as the long-term
outlook is good irrespective of medical manage-
ment.
Imaging is reserved for children with nasal polyps,
severe rhinosinusitis unresponsive to long-term
maximal medical therapy requiring FESS, and orbital
cellulitis or a suspected intracranial complication of
149
acute sinusitis. CT is the diagnostic tool of choice and
the scan technique depends on the indication. The
important technical points in CT of rhinosinusitis
for FESS are to use low-dose coronal scans, reserving
axial scans for patients requiring sphenoid surgery.
The radiologist must be able to identify patterns of
disease, anatomic variants and especially those vari-
ants which may lead to complications of FESS. The
important technical point in CT of orbital cellulitis
is to use a high radiation dose, intravenous-contrast-
enhanced study with thin-section axial and coronal
slices of the orbit with an axial survey of the remain-
ing brain. Coronal scans are vital to ensure orbital
roof subperiosteal abscesses or anterior cranial fossa
floor extra-axial collections are not missed.
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12 Nasopharyngeal Tumours
K.McHUGH

CONTENTS ral fossa" is used in this chapter as it is the more com-

monly used term in paediatric practice at present.
12.1 Introduction 153 The lateral position (as assessed radiologically) of
12.2 Differential Diagnosis 154 the pharyngobasilar fascia corresponds to a line con-
12.2.1 Benign Tumours 155
12.2.1.1 Angiofibroma 155
necting the tip of the medial pterygoid plate to the
12.2.1.2 Inverting Papilloma 158 lateral aspect of the carotid artery at the skull base
12.2.1.3 Haemangioma 158 (Fig. 12.l) (CHONG et al.I999).A line joining the pos-
12.2.1.4 Lymphangioma 159 terior free margins of the medial pterygoid plates can
12.2.1.5 Teratoma 159 be used to demarcate the nasopharynx from the nasal
12.2.2 Malignant Tumours 160
12.2.2.1 Rhabdomyosarcoma 160
cavity (Fig. 12.1). The slope of the soft palate renders
12.2.2.2 Nasopharyngeal Carcinoma 163 exact anatomic separation of nasopharynx from oro-
12.2.2.3 Lymphoma 167 pharynx more difficult by comparison. Extrapolat-
12.2.2.4 Chordoma 168 ing the hard palate posteriorly leads to inconsistent
12.2.2.5 Craniopharyngioma 170
12.2.2.6 Esthesioneuroblastoma 170
References 170

12.1
Introduction

The nasopharynx is an approximately 4x4x2 cm

cuboidal anatomic space in teenagers and corre-
spondingly smaller in younger children. It is limited
by the choanae anteriorly, the sphenoid sinus supe-
riorly, the clivus, axis and atlas posteriorly, the soft
palate inferiorly and the Eustachian tube orifice, torus
tubarius and the fossa of Rosenmiiller laterally. The
parapharyngeal space and infratemporal fossa are
separated from the nasopharynx by the pharyngo-
basilar fascia, which is the cranial extension of the
superior constrictor muscle. The infratemporal fossa
is located lateral to the parapharyngeal region and
inferior to the middle cranial fossa. The "masticator
space" is an anatomical description that is being Fig. 12.1. Radiological anatomic landmarks. Axial CT through
increasingly used instead of "infratemporal fossa" to the nasopharynx. Prominent adenoidal tissue and opacifica-
denote the latter anatomical region, but "infratempo- tion of the sinuses are noted in an otherwise well child. Line
A-A joining the posterior margins of the medial pterygoid
plates denotes the demarcation between the nasal fossa anteri-
orly and the nasopharynx posteriorly. Pharyngobasilar fascia
K. McHUGH, FRCR, FRCPI, DCH is represented by the lines B-B, which are lines joining the
Radiology Department, Great Ormond Street Hospital for posterior margin of the medial pterygoid plate to the lateral
Children, London WC1N 3JH, UK margin of each carotid artery at the skull base
154
results, partly because the slope of the hard palate is
dependent on the degree of flexion or extension of
the neck. The C1-2Ievel, which is easy to identify, has
now become the landmark on cross-sectional imag-
ing adopted by many in separating the nasopharynx
from the oropharynx (CHONG et al. 1999).
Tumours that arise in or invade into the nasophar-
ynx do not limit themselves, however, to the confines
of that anatomical space, but spread through areas
of least resistance. For malignant lesions in partic-
ular, the bony structures of this space provide only
limited resistance to spread. Hence, other anatomic
structures such as the paranasal sinuses, pterygopal-
atine fossa, pterygoid plates, neurovascular foramina
and skull base need to be examined carefully at the
initial assessment of all nasopharyngeal masses. With
obvious skull base or other osseous destruction, the
diagnosis of malignancy is often straightforward. Fre-
quently, however, distinguishing benign from malig-
nant or inflammatory lesions is not easy, being ulti-
mately dependent on histological assessment. Often
the more important role of the radiologist is in
defining the precise limit of disease. Some tumours
included in this chapter, e.g. rhabdomyosarcoma and
lymphoma, do not necessarily arise from within the
nasopharynx, but they may frequently extend into
and compromise this space.
The pterygopalatine fossa merits particular atten-
tion. From this fossa tumour can easily spread to
contiguous structures via the numerous fissures and
foramina with which it connects. A mass may extend
superiorly through the inferior orbital fissure into the
orbit. Laterally, the fossa opens into the infratempo-
ral fossa inferior to the zygoma. Medially, the sphe-
nopalatine foramen leads to the nasal cavity. More
ominously, spread posteriorly through the foramen
rotundum gives access to the cavernous sinus and
middle cranial fossa (CURTIN and TABOR 1991).
Other skull base foramina may also be invaded, and
perineural spread is a well-recognised pathway for
tumour growth in head and neck cancer.
There is a well-developed network of lymphatics
draining the nasopharynx. These lymphatics drain
into the first-echelon nodes in the retropharyngeal
group and via these nodes into the internal jugular
chain and to other deep cervical and superficial
nodes throughout the neck. Nodal groupings in the
neck are divided into six levels in the surgical and
oncological literature (CHONG and FAN 2000). Level
I includes submental and submandibular nodes.
Levels II, III and IV are nodes around the upper,
middle and lower jugular veins respectively. Nodes
in the posterior triangle are classified as level V
K.McHugh
nodes. Lymph nodes around the thyroid gland and
tracheo-oesophageal groove are designated level VI.
Facial, parotid and retropharyngeal nodes are by
convention not included in these level designations
(CHONG and FAN 2000).
CT with bone window settings is favoured by
some in the evaluation of the complex bony anat-
omy of the skull base (LLOYD et al. 1999). There is
some debate as to whether CT or MRI is best at
detecting lymphadenopathy - CT may be better at
identifying nodal necrosis and extracapsular spread
of tumour, for example. There are undoubtedly
times when the two techniques can be complimen-
tary. Increasingly, however, MRI is preferred by
many investigators because of its superior soft tissue
contrast resolution, multiplanar capability and lack
of ionising radiation. Contrast-enhanced, fat-sup-
pressed MRI sequences, in particular in patients
with nasopharyngeal masses, are excellent at dem-
onstrating tumour vascularity and extent, skull base
and intracranial disease, in addition to determin-
ing retropharyngeal or parapharyngeal extension or
involvement of the longus colli, for example. MRI is
also superior to CT in differentiating tumour from
sinusitis or sinonasal secretions after irradiation.
Sinusitis tends to be markedly hyperintense on T2-
weighted images and enhances avidly after gadolin-
ium administration, whereas tumour is usually of
varied intermediate signal and enhances heteroge-
neously. These differences are usually not so obvi-
ous on CT. It is well documented that the staging of
the same tumour in adults may be different on MRI
and CT, which can lead to upstaging or downstag-
ing (usually upstaging of skull base involvement by
MRI) (CHONG et al. 1999; NG et aI1997). Most naso-
pharyngeal tumours in children are at an advanced
stage by the time of presentation, such that subtle-
ties of nodal or skull base involvement are not a
problem on imaging. Although MRI is preferred for
staging head and neck tumours in children, a good
quality CT study is generally adequate in routine
clinical practice.
12.2
Differential Diagnosis
A large calcified lesion with additional fatty compo-
nents in a neonate or infant is likely to be a teratoma.
These masses are being increasingly picked up by
antenatal ultrasound and further evaluated by fetal
MRI such that the diagnosis is often fairly clear
Nasopharyngeal Tumours
prior to birth. In the neonate, other masses affect-
ing the nasopharynx such as an encephalocele or a
lymphangioma would also enter the diagnosis, but
can usually be distinguished with imaging. A large
haemangioma would typically present during the
proliferative phase as an enlarging mass in an
infant, with characteristic vivid enhancement after
contrast administration.
The major differential diagnoses of a nasopharyn-
geal mass in older children and adolescents do not
in practice include many lesions. Excluding common
conditions such as an abscess, which is generally
accompanied by systemic upset, and haematoma,
which is usually due to trauma, the differential diag-
nosis is helped to some extent by whether enlarged
cervical lymph nodes are present or not and by the
patient's age. A tumour of the nasopharynx in asso-
ciation with bulky bilaterally enlarged nodes in a
youngster over 10 years of age is most likely a naso-
pharyngeal carcinoma. Rhabdomyosarcoma, which
is the most common nasopharyngeal malignancy in
childhood in the developed world, by contrast, usu-
ally comes to attention because of local symptoms,
e.g. nasal voice, local pain, cranial nerve palsies or
protrusion of tumour through the nose in a so-
called sarcoma botryoides presentation (DOUGLASS
and PRATT 1997). The tumour may be seen extending
into the oropharynx, depressing the soft palate. The
median age for presentation of rhabdomyosarcoma
is 5-6 years and thus significantly younger than the
age of presentation of a nasopharyngeal carcinoma.
Lymph node metastases from a rhabdomyosarcoma
may be present but are frequently unilateral and
small by comparison with the typically conglomer-
ate masses due to nasopharyngeal carcinoma. Non-
Hodgkin's lymphoma is always a diagnostic pos-
sibility when unilateral or bilateral lymph node
enlargement is seen. The median age for head and
neck non-Hodgkin's lymphoma is younger than for
most other lymphomas at 5 years of age (WOLLNER et
al. 1990). Only biopsy will ultimately distinguish these
tumours from each other. Juvenile angiofibroma is
essentially restricted to adolescent males and not
accompanied by adenopathy. Brisk epistaxis, which
can be exsanguinating, is the typical presentation of
angiofibroma. Characteristic widening of the pter-
ygopalatine fossa is often seen in association with
anterior bowing of the posterior antral wall and
intense enhancement after contrast administration.
A few other rare malignant tumours are discussed in
this chapter, but they are extremely uncommon by
comparison with the tumours mentioned above and
seldom really enter the differential diagnosis.
155
12.2.1
Benign Tumours
12.2.1.1
Angiofibroma
Angiofibroma is the most common benign nasopha-
ryngeal tumour. Nevertheless, it is an uncommon
lesion, accounting for only 0.5% of all head and neck
neoplasms (SEO et al. 1996). The age range of those
affected is predominantly between 7 and 20 years of
age (median age 15 years); hence this lesion is also
often referred to as juvenile angiofibroma (LLOYD et
al 1999). The tumour occurs almost exclusively in
adolescent males. This male exclusivity is so typical
that some authors recommend chromosome analysis
on the extremely rare occasion the tumour is seen
in a female. There is some debate as to whether this
benign highly vascular lesion, which is typically non-
encapsulated, should actually be classified as a neo-
plasm rather than a hamartoma, although the vast
majority of authors favour neoplasia. Unlike ham-
artomas in general, these lesions typically behave
in a locally aggressive manner with a tendency to
both displace and infiltrate soft tissue planes. Bone
destruction, most characteristically at the base of
the pterygoid plates, is also a well-recognised feature
(Fig. 12.2).
Severe epistaxis, a blood-stained discharge, nasal
obstruction or a nasal mass are the common mani-
festation of these lesions. A nasal mass may be mis-
taken for a polyp, but in an adolescent male with
any of the above symptoms and a nasal mass lesion
a high index of suspicion for angiofibroma is war-
ranted. More advanced tumours can cause deafness
and cranial nerve deficits. Proptosis may be seen if
the orbit is invaded. Biopsy is hazardous and may
provoke severe bleeding. For this reason most sur-
geons are reluctant to biopsy a nasopharyngeal mass
in an adolescent male, and prefer to rely on the clin-
ical and radiological features to decide whether a
mass is likely to be an angiofibroma or another non-
vascular lesion such as an antro-choanal polyp.
A mass lesion in the nose or nasopharynx with
extension from the pterygopalatine fossa is evident
in all patients (LLOYD et al. 1999). It seems likely that
angiofibromas or at least the vast majority of them
originate from the pterygopalatine fossa in the
recess behind the sphenopalatine ganglion at the
anterior aperture of the pterygoid canal (LLOYD et
al. 1999). Characteristic osseous destruction or pos-
terior bowing of the base of the pterygoid plates is
seen in virtually every patient (Fig. 12.2a, b, d). An
 156 K.McHugh

Fig. 12.2a-e. Angiofibroma. a Axial CT on bone window set-

tings showing destruction of the pterygoid plates on the right
with anterior bowing on the posterior antral wall. b Axial CT
after intravenous contrast showing a large mass mainly in the
left nasal cavity, extension into the nasopharynx, widening of
the pterygomaxillary fissure and early bowing of the posterior
antral wall. c Coronal CT at soft tissue window settings show-
ing vivid enhancement of an angiofibroma extending into the
middle cranial fossa. d Coronal CT on bone windows show-
ing invasion of the pterygoid base and sphenoid - this lesion
carries a high risk of recurrence despite optimal therapy. e
Axial Tl-weighted MRI after gadolinium administration dem-
onstrates a large angiofibroma displaying intense enhance-
ment destroying the right parapharyngeal area and maxillary
antrum. Low-signal nasal secretions are noted in the right nasal
cavity anteriorly. (Courtesy of Dr. Peter Phelps, London) e
Nasopharyngeal Tumours
enhancing mass in the nose with erosion of bone
behind the sphenopalatine foramen at the root of the
pterygoid plate is thus in essence pathognomonic of
angiofibroma in adolescent males, and simply rules
out other lesions from the differential diagnosis. Bony
changes can be easily identified on either axial or cor-
onal CT sections, which are best performed with 3-
to 5-mm section thickness. Angiofibromas typically
show vivid enhancement after intravenous contrast
administration (Fig. 12.2c). Coronal CT can also show
the well-vascularised mass and bone erosion elegantly.
MRI defines the soft tissue extent to best effect, but
CT is favoured by some, particularly for its ability to
assess the complexity of osseous structures at the skull
base (LLOYD et al. 1999). Angiofibromas may have
variable "salt and pepper" appearance on Tl-weighted
MRI with flow voids reflecting large feeding vessels,
and they also display intense enhancement after gado-
linium administration (Fig. 12.2e). Increasingly many
authors now favour fat-suppressed MRI or some form
of subtraction to optimally demonstrate these lesions,
particularly when trying to detect tumour recurrence.
It should be emphasised that the presence and extent
of sphenoid invasion must be carefully evaluated and
documented, as sphenoid invasion portends a high
risk of recurrence (LLOYD et al. 2000).
Other findings seen in the majority of patients
at diagnosis include enlargement or erosion of the
vidian canal, extension of tumour to the sphenoid
sinus and spread to the infratemporal fossa. The orbit
is invaded or there is extension to the middle cranial
fossa in approximately 20% of patients. The "antral
sign", described by HOLMAN and MILLER (1965), is
forward bowing of the posterior antral wall caused
by tumour expansion indenting the posterosuperior
border of the maxillary antrum. This classic plain
radiographic sign can be difficult to visualise on plain
radiographs and is not actually specific for angiofi-
bromas, occurring in other slow-growing neoplasms
such as schwannoma. This sign of an angiofibroma
has been largely superseded by CT, in that anterior
bowing of the posterior antral wall is more readily
identified at CT examination. The mass also has a ten-
dency to spread to the infratemporal fossa by lateral
extension via the pterygomaxillary fissure and invade
the apex of the orbit through the inferior orbital fis-
sure. From this, lying outside the rectus muscle cone,
it can gain access to the middle cranial fossa through
the superior orbital fissure (LLOYD et al. 1999).
Recurrence is a major problem and a conspicu-
ous feature of angiofibroma. Reported rates of recur-
rence vary from 25% to 40%, with multiple recur-
rences occurring in up to 14% of patients (LLOYD et
157
al. 1999; CHAGNAUD et al. 1998). Half of the recur-
rences are found within 12 months of initial surgery.
Tumour growth rate, which may influence surgical
outcome, varies during the natural history of these
lesions. Growth may be at a maximum early on, so
that ideally surgery should be performed when the
growth rate is slowing - this ideal, however, is often
impractical for clinical reasons, e.g. risk of blindness
due to optic nerve encroachment. In addition, a prob-
ably more significant factor in most recurrences is
tumour remaining after incomplete resection. Close
postoperative follow-up with nasopharyngeal endos-
copy and surveillance imaging is therefore necessary.
Endoscopy cannot, however, diagnose tumour recur-
rence beyond the nasopharyngeal cavity. Because of
the high risk of recurrence, cross-sectional imaging
(preferably MRI) is recommended after surgery for
all patients, probably ideally after 2 months. At this
stage perioperative oedema and inflammation have
largely resolved. CHAGNAUD et al. 1998 reported
that all their patients with recurrences had residual
tumour demonstrable at the first postoperative imag-
ing study. Invasion and expansion of the cancellous
bone at the base of the pterygoid process is particu-
larly associated with a high recurrence rate. In the
series reported by LLOYD et al. 1999 the cases of mul-
tiple recurrence were only associated with this type
of tumour extension.
Some normal appearances need to be recognised
in the postoperative setting. Mucosal and/or submu-
cosal thickening is seen in each surgically approached
sinus cavity. The pterygopalatine fossa typically
remains enlarged and filled with non-enhancing
tissue. Some confusing appearances may be evident,
however, and, as surgical biopsy remains highly
dangerous, serial examinations are often necessary
before repeat surgery is decided upon. A stable, albeit
enhancing, mass is consistent with fibrosis, while a
mass lesion that continues to enlarge is likely to be
tumour. Angiography is not particularly helpful in
this situation as tumour blush has been seen in cases
in which no gross tumour was found at repeat sur-
gery (CHAGNAUD et al. 1998). The natural history of
residual or recurrent tumour is unclear, and occa-
sional reports of spontaneous regression of tumoral
residue have been described.
Testosterone receptors have been found in angio-
fibromas, but the effects of the sex hormones in these
cases is not clear. For example, diethylstilbestrol has
been used as a treatment without much success. Sur-
gery in the form of the mid-facial degloving oper-
ation is now the procedure of first choice at initial
diagnosis. This is said to allow excellent exposure
158
of the lesion whilst avoiding an external incision
(LLOYD et al. 1999). Access to the nasal cavities, max-
illary, ethmoid and sphenoid sinuses, pterygopalatine
fossa, nasopharynx and infratemporal area is possi-
ble. When imaging shows no sphenoid bone invasion,
the tumour can be removed in toto without recur-
rence. For patients with invasive tumours, more rad-
ical resection is required, with removal of the base
of the pterygoid process, vaginal process of the sphe-
noid and diploe of the greater wing of the sphenoid,
for example. Whether preoperative embolisation pre-
disposes to later tumour recurrence is unclear, and
conflicting opinions exist regarding the value of
preoperative embolisation (CHAGNAUD et al. 1998;
LLOYD et al. 1999). Embolisation, perhaps paradox-
ically, appears to be contraindicated when there
is deep invasion of the pterygoid base, as tumour
shrinkage here may result in tumour being inacces-
sible to the surgeon, thus making recurrence likely
(LLOYD et al. 1999). Other authors favour emboli-
sation in most cases, with embolisation of various
branches of the external carotid artery routinely per-
formed. The tumour is supplied exclusively by the
external carotid artery in the majority of cases. Inter-
nal carotid studies should be performed prior to
embolisation to assess the intracranial circulation
and exclude supply to the tumour. It should be noted
that some lesions may be supplied solely by the inter-
nal carotid artery (CHAGNAUD et al. 1998; TEWFIK et
al. 1999). Intracranial spread of tumour appears to
be an undisputed indication for embolisation in most
centres (LLOYD et al. 2000). The indications for radio-
therapy are also not entirely clear, with some variation
between centres. Many believe that, because of the risk
of radiation-induced malignancy, and because of the
good results achieved with surgery alone, irradiation
should be reserved for patients with multiple recur-
rences or intracranial involvement.
12.2.1.2
Inverting Papilloma
An inverting papilloma, although a benign neoplasm,
has the potential for local invasion and may result
in bone destruction. Inverting papillomas arise from
a unique area of the respiratory epithelium termed
the schneiderian mucosa and are classified by some
investigators as a subset of schneiderian papillomas.
Inverting papillomas are only occasionally associated
with human papillomavirus infection on pathologi-
cal review and polymerase chain reaction examina-
tions (WEINER et al. 1999). The name is a descriptive
K.McHugh
term for the histology, which shows inversion of the
surface epithelium into the underlying stroma rather
than exophytic proliferation. It is more common in
males but is an unusual lesion in childhood.
The majority of lesions are unilateral and arise
from the lateral aspect of the nasal cavity. They also
originate sporadically from the ethmoid, maxillary,
sphenoid or frontal sinuses and can extend poste-
riorly into the nasopharynx. There are no specific
radiological features of an inverting papilloma, and
diagnosis is dependent on biopsy. Although the
tumour is benign, pressure erosion resulting in
bone destruction and intracranial extension are well
recognised consequences. Recurrent disease is also a
recognised phenomenon, having an association with
degeneration into squamous cell carcinoma in adult
patients (ROOBOTTOM et al. 1995). The major role of
cross-sectional imaging is to define the extent of the
lesion and to exclude recurrence in the postoperative
period. Complete surgical resection is essential for
successful management. Limited excision by intrana-
sal polypectomy or antrostomy, for example, runs a
high risk of recurrence (ROOBOTTOM et aI1995).
12.2.1.3
Haemangioma
Vascular anomalies of the head and neck are rela-
tively common lesions in children. These anomalies
can be simply divided into haemangiomas or vascu-
lar malformations. Overall, haemangiomas are the
most common head and neck tumours in childhood.
Nasopharyngeal involvement by a haemangioma is
unusual, as these lesions tend to affect the airway
lower in the neck, but rarely a large infiltrative
lesion may compromise the nasopharynx (Fig. 12.3).
Cutaneous, mucosal and deep invasive lesions can
be found. Haemangiomas are benign mesenchymal
tumours that typically undergo a period of rapid
growth during infancy before spontaneously involut-
ing in early childhood. They enhance fairly homo-
geneously on CT after intravenous contrast admin-
istration, most notably during the early proliferative
phase of growth, but occasionally show initial
peripheral enhancement followed by gradual cen-
tral enhancement. They are much more conspicuous
on MRI, which is the optimal method by which to
assess these lesions. The hallmark of haemangiomas
on MRI is a relatively homogeneous signal on all
pulse sequences. They are characteristically of inter-
mediate signal on Tl-weighted images, hyperintense
on T2, and enhance homogeneously and intensely
Nasopharyngeal Tumours
after gadolinium administration. The imaging and
treatment of haemangiomas involving the head and
neck region is dealt with in greater detail elsewhere
(see Chap. 20).
12.2.1.4
Lymphangioma
Lymphangiomas arise from maldevelopment ofprim-
itive lymphatic sacs. They are generally present at
birth or appear shortly thereafter. Macrocystic and
microcystic varieties occur, the former being com-
monly referred to as cystic hygroma. Most lymphan-
giomas originate in the neck in the posterior cervi-
cal triangle remote from the nasopharynx. Larger
lesions can be very extensive and can involve the
floor of the mouth and tongue base. Extension into
the nasopharynx is unusual but may be seen with
particularly large lesions. On contrast-enhanced CT
these lesions appear as near-water-attenuation, mul-
tiloculated masses with mainly peripheral enhance-
ment. Lymphangiomas frequently contain some hae-
mangiomatous elements, and so their appearances on
MRI can be similar to those of haemangiomas. The
lesions with larger cystic components tend, however,
to have low signal relative to muscle on Tl-weighted
MRI. They are hyperintense on T2 and may show
some enhancement after gadolinium administration,
typically in the walls or septations of the cysts.
Lymphangiomas are also dealt with in greater detail
elsewhere in the text (Chap. 13).
159
Fig. 12.3. Haemangioma. Contiguous
sagittal T2-weighted images showing
an extensive hyperintense prevertebral
lesion, typical of a large haemangioma,
in a 3-month-old infant. The appear-
ances on other sequences were also char-
acteristic - note that the mass extends
from the upper posterior mediastinum
to the nasopharyngeal region, into the
spinal canal and posteriorly
12.2.1.5
Teratoma
Teratomas and dermoid cysts are developmental
lesions which arise from pluripotential embryonal
cells. Teratomas are derived from all three germ cell
layers, while dermoids are composed of two germ
cell layers, namely mesoderm and ectoderm. These
lesions are exceedingly rare in the nasopharyngeal
region. They are virtually always histologically benign
mature teratomas. Tumour location and size rather
than histological grading are the most significant fac-
tors affecting the clinical course. Cervical teratomas
are generally present at birth and are rare beyond a
year of age. Most are found in the anterior suprahyoid
neck and may extend into the nasopharynx (BYARD
et al. 1990). Most tumours manifest as obvious pal-
pable masses. Airway encroachment may result in
respiratory distress or stridor. Larger, severe lesions
can result in premature delivery and stillbirth caused
by airway compression and pulmonary hypoplasia
(BYARD et al. 1990). Teratomas tend to occur in isola-
tion and there is usually no association with other
congenital anomalies.
Like teratomas elsewhere, these lesions often
contain calcification, fat and/or fluid attenuation
(Fig. 12.4). The attenuation characteristics on CT
and MRI signal will thus reflect the heterogeneous
nature of these masses, bearing in mind that MRI is
insensitive in detecting calcification. It is important
to recognise these tumours and differentiate them
 160 K. McHugh

a b
Fig. 12.4a, b. Teratoma. a A large nasopharyngeal teratoma had been removed from this patient in the neonatal period. CT
at 6 years of age shows persisting abnormalities in the left nasopharyngeal region. The left side wall of the nasopharynx is
distorted with excess soft tissue, reduced size of the parapharyngeal fat space, blunted medial pterygoid plate with a focus of
calcification and fatty attenuation posterior to the pterygoid wings. b The contiguous inferior section shows more prominent
fatty tissue

from a lymphangioma or another congenital naso-
pharyngeal mass such as an encephalocele, as tera-
tomas (due to potentially fatal airway obstruction)
frequently need surgical correction soon after birth.
Many of these lesions are quite large masses, and fail-
ure to operate in the neonatal period has been asso-
ciated with a mortality approaching 100% (BYARD
et al. 1990). Complete surgical excision should be
curative.
12.2.2
Malignant Tumours
12.2.2.1
Rhabdomyosarcoma
Rhabdomyosarcoma is the most common malig-
nancy in the nasopharyngeal region in children in
developed countries. In some developing countries
lymphoma, particularly Burkitt's lymphoma, is a
more common tumour in the nasopharynx. Rhab-
domyosarcoma is an aggressive tumour that charac-
teristically infiltrates along fascial planes and has a
tendency to dissemination via both the lymphatic
and haematogenous routes. After neuroblastoma and
Wilms' tumour, rhabdomyosarcoma is the next most
common extracranial solid tumour, and it accounts
overall for approximately 8% of childhood cancer
(McHUGH and BOOTHROYD 1999). Half of all cases
are diagnosed in children less than 5 years of age.
Omitting tumours in the orbit, other head and neck
sites account for 25% of all rhabdomyosarcoma cases.
In the following section, the manifestations of this
tumour in the pharyngeal region will be emphasised.
Rhabdomyosarcoma is also discussed in Chap. 19.
Although the term rhabdomyosarcoma implies a
mesenchymal tumour derived from striated muscle,
the tumour typically arises in sites lacking striated
muscle. Two major cell types are encountered, namely
embryonal and alveolar. Up to 60% of newly diagnosed
cases in general are classified as embryonal, 20% as
alveolar and the rest as undifferentiated (McHuGH
and BOOTHROYD 1999). Embryonal tumours predom-
inate in the pharyngeal region. Embryonal and alveo-
lar tumours can be distinguished by some structural
chromosomal changes. For example, unlike embryo-
nal tumours, which lack tumour-specific transloca-
tions, the alveolar histiotype is characterised by a
rearrangement of chromosomes 2 and 13, the t(2;13)
(q35:qI4) in which the PAX3 gene within band 2q35
is fused to the FKHR gene within band 13q14 (PAPPO
et al. 1997).
A head or neck rhabdomyosarcoma may present as
an asymptomatic mass. Tumours in the nasopharyn-
geal region or sinuses more commonly manifest with
airway obstruction, nasal voice, epistaxis, dysphagia,
cranial nerve palsies or local pain. A mucopurulent or
Nasopharyngeal Tumours
serosanguinous discharge may also be seen. Specific
so-called parameningeal sites include the nasal cavity,
paranasal sinuses, pterygoid fossa, and nasopharynx.
Parameningeal tumours have a high risk of spreading
to the meninges by contiguous bony destruction. Cra-
nial nerve palsies generally indicate advanced disease
at diagnosis in these patients.
CT or MRI of the primary mass is indicated at
diagnosis for accurate staging. Despite the better res-
olution of osseous structures with CT, MRI is pre-
ferred because of its superior soft tissue contrast.
Whether on CT or MRI, to best define tumour mar-
gins and vascularity, contrast-enhanced studies must
be performed. Four- to 5-mm contiguous sections are
generally adequate, with the multiplanar capability of
MRI allowing a fuller overall assessment. Parameni-
ngeal rhabdomyosarcoma masses are typically large,
heterogeneous tumours, with one-third to one-half of
patients showing evidence of local bone destruction
at initial diagnosis (Fig. 12.5). Approximately 25% of
parameningeal tumours show intracranial invasion
(Fig. 12.5b). Skull base erosion or destruction of the
pterygoid plates in particular is relatively common. In
addition, insidious growth with invasion through the
intracranial foramina is well recognised. The lesions
are typically heterogeneous masses, display interme-
diate signal intensity on Tl-weighted MRI, are hyper-
intense on T2 and show variable enhancement (Fig.
12.5 c, d). Lymphadenopathy, when present, tends to
be unilateral and small in comparison to the con-
glomerate nodal masses of nasopharyngeal carcino-
mas. The frequency of regional lymph node involve-
ment is not precisely defined, and is largely dependent
on imaging, as lymph node sampling is not routinely
performed in these patients. Head and neck rhabdo-
myosarcomas do have a significantly lesser tendency
than the same tumour at other sites (e.g. genitouri-
nary primaries) to metastasise to the loco-regional
lymph nodes. When lymph node sampling was
performed in early Intergroup Rhabdomyosarcoma
Study (IRS) series, 7% of patients were found with
positive nodes for non-orbital head and neck sites,
as opposed to 24% with positive nodes for genitouri-
nary disease (LAWRENCE et al. 1987). Cervical lymph
nodes up to 1 cm in diameter are often present in
normal children. Unfortunately, metastatic rhabdo-
myosarcoma to these nodes may not result in nodal
enlargement. As involvement of loco-regional lymph
nodes affects staging and prognosis, some paediat-
ric oncology groups are again recommending cervi-
cal lymph node sampling in these patients.
Staging in childhood rhabdomyosarcoma is some-
what problematic and not strictlycomparable between
161
the different co-operative paediatric oncology groups.
The only true pre-treatment staging system in wide-
spread use is the TNM system used by the Inter-
national Society of Paediatric Oncology (SlOP). The
North American IRS places greater reliance on a clini-
cal grouping system, which is essentially a post-surgi-
cal staging system. Subtleties of tumour extension and
therefore local staging are becoming less of an issue,
however, as treatment policies are converging such an
extent that all children in many centres now receive
radiotherapy in addition to chemotherapy, irrespec-
tive of the exact head and neck location of the pri-
mary lesion. Formerly only strictly defined parame-
ningeal sites received irradiation. Routine staging at
diagnosis includes chest CT in all patients, as rhabdo-
myosarcoma overall has a 10% incidence of pulmo-
nary metastases at diagnosis. The experience of the
UK Children's Cancer Study Group suggests that skel-
etal metastases from head and neck rhabdomyosar-
comas are rare in the absence of bony symptoms
or positive marrow aspirates. Hence, routine skeletal
scintigraphy may not be necessary in all patients with
head and neck primaries (McHUGH 2000).
The great majority of relapses are local tumour
recurrence. The presence of a "post-therapeutic resi-
due" or residual soft tissue abnormality on follow-up
CT of a head and neck rhabdomyosarcoma has been
shown to be a poor prognostic indicator indicating
a high risk of local relapse (GILLES et al. 1994). Dif-
ferentiating fibrosis from residual tumour at the end
of chemotherapy is also difficult and often unreli-
able with MRI. A biopsy may be negative for tumour
because of sampling error and is not routinely rec-
ommended. Functional nuclear medicine techniques
such as positron emission tomography hold some
promise for the future in differentiating residual soft
tissue thickening or fibrosis from persistent tumour
in these patients.
In general, poor prognostic features in children
with rhabdomyosarcoma include a large tumour over
5 cm in diameter, age over 10 years and alveolar his-
tology. Striking differences in outcome with regard to
the primary site of tumour are also a feature of rhab-
domyosarcoma. Non-parameningeal head and neck
tumours are a prognostically favourable site of dis-
ease, with 3-year survival figures around 90%. The
outcome for parameningeal tumours is less favour-
able, with 3-year survival between 60% and 70%
(LAWRENCE 1997). Relapse of rhabdomyosarcoma
carries a poor prognosis, with CNS relapses in par-
ticular having a dismal outcome. Multimodal che-
motherapy is the mainstay of treatment, with radio-
therapy administered early for all parameningeal
 162 K.McHugh

Fig. 12.5a-e. Rhabdomyosarcoma. a Axial CT at bone window

settings in a 9-year-old girl showing left-sided skull base and
posterior orbital wall destruction. b Coronal T2-weighted MRI
in the same patient showing a heterogeneous, mainly hyperin-
tense mass occupying the left parapharyngeal region bulging
into the nasopharynx. Note also erosion of the medial aspect... C>
e
 Nasopharyngeal Tumours 163

tumours. Brain irradiation is indicated for intracra-
nial tumour extension. Primary surgery is never pos-
sible in parameningeal tumours and seldom feasible
in non-parameningeal locations. Despite the long-
term sequelae of irradiation, especially in younger
patients, there is an increasing tendency to adminis-
ter radiotherapy to all children with non-paramen-
ingeal tumours also. Where possible, however, irra-
diation is avoided in children under 3 years of age
at diagnosis - rather than an immediate decision to
irradiate all these children, a decision is postponed
until after completion of chemotherapy. If complete
disappearance of the tumour has occurred, many
oncologists omit radiotherapy, and therefore high-
quality imaging at this stage is critical for patient
management.
12.2.2.2
Nasopharyngeal Carcinoma
Nasopharyngeal carcinoma is the most common pae-
diatric epithelial carcinoma. It accounts for up to one-
third of nasopharyngeal malignancies in childhood.
This carcinoma has a variable range of incidence
depending on geographic location and Epstein-Barr
virus (EBV) exposure. It is most common in certain
parts of Asia and Africa, where it can account for up
to 20% of childhood malignancies (MERTENS et al.
1997). In North America and Europe nasopharyn-
geal carcinoma is an uncommon tumour with an
annual incidence of approximately 1:100,000 chil-
dren, accounting for up to 1-2% of paediatric malig-
nancies, but probably less than this in reality (ZUBI-
ZARRETA et al. 2000). The age distribution is bimodal,
with an early peak of incidence between 10 and 20
years of age and a second peak between 40 and 60
years. It is more common in boys, although the male
predominance seen in nasopharyngeal carcinoma in
adults is much less apparent in childhood. Nasopha-
ryngeal carcinoma is also more common in black
than in white children.
The World Health Organisation (WHO) has classi-
fied nasopharyngeal carcinoma as follows:
WHO-I: Squamous cell carcinoma
WHO-2: Non-keratinizing carcinoma
WHO-3: Undifferentiated carcinoma
Lymphepithelioma (carcinoma heavily infiltrated
with lymphocytes) is included in the WHO-3 category.
The paediatric population almost exclusively devel-
ops the histologically undifferentiated (WHO-3) sub-
type (ZUBIZARRETA et al. 2000). This variant affecting
younger patients is strongly associated with increased
antibody titres to EBV antigens and displays a more
aggressive histology, but is usually highly responsive
to chemotherapy and irradiation. EBV DNA can be
demonstrated in the malignant cells in biopsy spec-
imens, and these cells also express the EBV nuclear
antigen. IgA and IgG antibodies to the viral capsid
antigen are of particular clinical importance. These
titres usually correlate with the total tumour burden
and decrease with successful therapy (DOUGLASS and
PRATT 1997). By contrast, highly differentiated squa-
mous cell carcinomas and non-keratinizing carci-
nomas without lymphoidal stroma, which are adult
tumours, do not show any particular titre against the
various EBV antigens (MERTENS et al. 1997).
There is a wealth of literature regarding the imag-
ing of nasopharyngeal carcinoma in adults. By con-
trast, there is a dearth of published articles on this
cancer in childhood. Consequently, much of the fol-
lowing regarding the radiology of nasopharyngeal
carcinomas has been extracted from the adult lit-
erature. Many of the series quoted, however, have
included younger patients in their studies, and the
tumour has many similarities in both age groups
affected.
The most widely used staging system for nasopha-
ryngeal carcinoma, updated in 1997, is a collaborative
project by the International Union Against Cancer
(IUAC) and the American loint Committee on Cancer
(AlCC) (FLEMING et al. 1997). This TNM system was
revised to take into account the availability of cross-
sectional imaging and data from prognostic factor
studies (Table 12.1). Some features of the modified
classification scheme devised by Ho (1978) which had
been shown to be useful in predicting prognosis were
also taken into account. The description of tumour
spread by Ho had correctly placed more emphasis on
the localisation of lymph node metastases than on
the actual size of the primary tumour. For example,
largely irrespective of the size of the primary lesion,
a poor outcome is seen in patients with nodal
involvement in the lower cervical and supraclavicular
regions. In addition, patients with distant metastases
at diagnosis have a uniformly poor prognosis. To
summarise briefly, nasopharyngeal carcinoma stag-

..of the left ramus of the mandible and intracranial extension towards the cavernous sinus. c Sagittal II-weighted MRI after
intravenous gadolinium enhancement in a 4-year-old girl. This shows a large enhancing mass in the nasopharynx and nasal cavity
clearly invading the basisphenoid inferior to the pituitary fossa. d Axial T2-weighted MRI in another patient showing intermediate
signal intensity tumour in the nasopharynx and left parapharyngeal area with more hyperintense secretions in the nasal cavity
and left maxillary sinus. e A 7-year-old boy. Axial CT after contrast administration demonstrating a large hypodense mass lesion
occupying all of the nasopharynx and obliterating the left parapharyngeal fat space. Note erosion of the left pterygoid plates
164 K.McHugh

Table 12.1. Nasopharyngeal cancer: International Union Against Cancer/American Joint Committee on Cancer TNM and
stage grouping, 5th edn (FLEMING et al. 1997)
T: Primary tumor
TI Tumor confined to nasopharynx
T2 Tumor extends to soft tissue of oropharynx and/or nasal fossa
T2a Without parapharyngeal extension
T2b With parapharyngeal extension
T3 Tumor invades bony structures or paranasal sinuses
T4 Tumor with intracranial extension or involvement of cranial nerves, infratemporal fossa, hypopharynx, or orbit
N: Regional lymph nodes
Nx Regional lymph nodes cannot be assessed
NO No regional nodal metastases
NI Unilateral metastases in lymph nodes, 6 cm or less in greatest dimension above supraclavicular fossa
N2 Bilateral metastases in lymph nodes, 6 cm or less in greatest dimesion above supraclavicular fossa
N3 Metastases in lymph node(s)
N3a Greater than 6 cm in dimension
N3b Extension to the supraclavicular fossa
Stage grouping
Stage 0 Tis, NO, MO
Stage I II, NO, MO
Stage lIa T2a, NO, MO
Stage lIb II, NI, MO
T2a,NI,MO
T2b, NO, NI, MO
Stage III II,N2,MO
T2a, T2b, N2, MO
T3, NO, NI, N2, MO
Stage IVa T4, NO, NI, N2, MO
Stage IVb AnyT,N3,MO
Stage IVc AnyT, anyN, MI

T, primary tumor; Tis, tumor in-situ; N, regional nodal metastasis; M, distant metastasis

ing can be simplified as follows. Tumour confined
to the nasopharynx is early-stage disease; invasion
of the nasal cavity, oropharynx or parapharyngeal
region represents intermediate disease; while inva-
sion of the skull base, infratemporal fossa, cranial
nerves or cranium is advanced-stage disease. It should
be noted that involvement of the prevertebral mus-
cles is spread beyond the anatomic boundary of the
nasopharynx, but this is still classified as T1 disease.
The prognostic significance of parapharyngeal infil-
tration is unresolved and will need further review
(CHONG et al.1999). Involvement of the infratemporal
fossa presages a poor outcome and this may be partly
explained by perineural infiltration by tumour. The
distribution and prognosis of lymph node metasta-
ses are sufficiently different from those of other head
and neck malignancies to justify using a different N
classification system (CHONG et al.1999). In nasopha-
ryngeal carcinoma a nodal size of 6 cm is used to
separate Nl/N2 from N3 disease, in contrast to the 3
cm used to differentiate Nl from N2a in other muco-
sal malignancies of the head and neck. Furthermore,
contralateral small lymph nodal metastasis could be
classified as Nl because the nasopharynx may be
considered a midline structure (CHONG et al. 1999).
The revised (1997) TNM has been shown to be
prognostically useful in adult tumours (HENG et al.
1999). This IUAC/AlCC system, however, which was
designed for all oropharyngeal malignancies in all
age groups, offers only limited help in assessing prog-
nosis in children and young patients with nasopha-
ryngeal carcinoma. It places more than 90% of cases
in stage III or IV and does not take into account
the relatively good prognosis of many young patients
with this disease. Nor does it account for the lack
of association between the T stage and the N stage
in this disease in younger patients (DOUGLASS and
PRATT 1997).
Cervical lymph node enlargement is the most fre-
quent presenting complaint, being present in vir-
tually all young patients. Fifty percent of patients
between 10 and 20 years of age have bilateral lymph
nodal involvement at presentation (WERNER-WASIK
et al. 1996). Palpable adenopathy is frequently the
only symptom in children and the diagnosis of naso-
pharyngeal carcinoma is made from lymph node
biopsy. Other symptoms which are related to local
tumour spread include epistaxis in about half the
Nasopharyngeal Tumours
patients affected, and headache, trismus or otalgia in
approximately one-third (ZUBIZARRETA et al. 2000).
Sialorrhoea, local pain, nasal obstruction, cranial
nerve palsies or unilateral hypoacusis are also seen
in some patients. Horner's syndrome is another
recognised presentation. Paraneoplastic hypertrophic
osteoarthropathy with clubbing, joint pain and swell-
ing has also been described in paediatric patients.
Plain radiographs of the cervical area and skull
base have no useful role to play in these patients
and may be misleading (WALDRON et al. 1992). Ultra-
sound can be used to confirm nodal enlargement and
lymph node biopsy may be undertaken with ultra-
sound guidance. It should be noted, however, that
with presumed nodal masses in childhood many pae-
diatric pathologists favour open biopsy so that a suf-
ficient quantity of tissue can be obtained. Doppler
assessment has been utilised to differentiate benign
from malignant lymph nodes in adult patients in this
setting. The majority of malignant nodes have an
absent hilum and typically demonstrate a capsular or
capsular and central distribution of Doppler signals
reflecting conspicuous vascularity in the periphery
and central aspects of a node (Ho et al. 2000). Most
paediatric centres, however, would have little similar
experience in the context of nasopharyngeal carci-
noma in children. Consequently, CT and MRI are
the major imaging modalities used to define tumour
extent, bone destruction or skull base invasion, rela-
tionship to neurovascular structures and any asso-
ciated adenopathy (Fig. 12.6). Three- to 5-mm con-
tiguous axial sections with intravenous contrast
enhancement to include the skull base are generally
adequate for diagnosis and staging, whether on CT
or MRI. Other orthogonal planes may add additional
information on MR studies, but axial sections are
best overall for assessing vascular involvement and
nodal spread. On MRI the primary mass lesion is
generally of intermediate T1 signal, hyperintense on
T2 and displays variable heterogeneous enhancement
after gadolinium administration. MRI and CT are
complementary in the assessment of nasopharyngeal
carcinoma, and in this unusual childhood tumour
there is an argument for performing both at diagno-
sis. MRI is best for delineating tumour extent with
better soft tissue contrast, and CT is more sensitive
in the evaluation of the skull base. In some cases, CT
may be superior in the detection of cervical lymph-
adenopathy and nodal necrosis.
The size of a nasopharyngeal primary tumour can
vary greatly. Some are small, confined to the mucosa
or submucosa, and difficult to detect on direct inspec-
tion and cross-sectional imaging. Such superficial
165
tumours may merely result in mucosal blunting or
asymmetry of the nasopharyngeal wall. Larger lesions
occupy the parapharyngeal fat space and displace the
airway (Fig. 12.6a,b). The internal jugular vein is fre-
quently compressed and difficult to visualise. Obliter-
ation of the fossa of Rosenmiiller and the Eustachian
opening are relatively common findings. Skull base
invasion occurs with more advanced lesions. This may
result from spread for example through the sphenoid
or occipital aspect of the clivus, through the foramen
lacerum or petrous temporal bone. The foramen lac-
erum tends to be the most frequently invaded fora-
men because of its close proximity to the lateral pha-
ryngeal recess (KING et al.1999). Intracranial invasion
most frequently involves the cavernous sinus. This
occurs due to spread of tumour along the carotid
artery, through the foramen ovale or directly through
the sphenoid bone (KING et al.1999).
Nasopharyngeal carcinoma spreads to the lateral
cervical chains including superficial nodes along the
external jugular vein, deep internal jugular nodes in
the anterior triangle, posterior triangle and retropha-
ryngeal nodes (Fig. 12.6). The retropharyngeal and
deep cervical nodes cannot be palpated and radio-
logical assessment of these areas is therefore critical.
Lymph nodes less than 1 cm in diameter are a
common finding in the neck of many normal healthy
children. Significantly larger nodal masses are char-
acteristic of nasopharyngeal carcinoma, but equivo-
cal smaller lesions may need biopsy for histological
confirmation. This is not generally a problem in
clinical practice as nasopharyngeal carcinoma in
young patients is usually quite advanced at diagno-
sis and large radiation fields including bilateral cervi-
cal lymph nodes are employed during radiotherapy.
Lymph nodes bigger than 1 cm in diameter are likely
to be involved, particularly if they have a cystic or
necrotic centre, which is best seen after intravenous
contrast enhancement. Groups of three or more bor-
derline nodes (1 cm diameter approximately) are also
considered metastatic. These criteria are based on
work by VAN DER BREKEL et al. (1990), which consti-
tutes the most widely accepted criteria for determin-
ing metastatic lymph nodes in adult patients.
Differentiating residual soft tissue thickening from
tumour recurrence on follow-up can be difficult even
with MRI. There has been little published on this
topic in paediatric patients and so basic principles
need to be applied - histological confirmation is nec-
essary or a mass that enlarges on sequential studies
is assumed to be tumour until proven otherwise.
False-positive diagnosis of tumour recurrence on
CT is common (CHONG and FAN 1997). MRI is now
 166 K.McHugh

a b

c d
Fig. 12.6a-d. Nasopharyngeal carcinoma. a, b A lO-year-old girl who presented with marked bilateral cervical adenopathy.
a Axial enhanced CT showing a large mass extending from the nasopharynx anteriorly into the nasal cavity and into the
parapharyngeal spaces bilaterally. Note erosion of the medial pterygoid plates, adenopathy on the right with soft tissue oedema.
b Extension of the bulky tumour towards the oropharynx on the right is evident. Bilateral adenopathy is now also visible. c A
12-year-old boy with a mass protruding into the oropharyngeal airway (arrow) and associated right-sided adenopathy. (Courtesy
of Dr. Savvas Andronikou, Cape Town.) d An ll-year-old boy who presented with unilateral neck mass due to adenopathy.
Unenhanced CT showing left-sided lymphadenopathy. Some prominence to the nasopharyngeal soft tissues for age, although
smooth in outline, was proven to be carcinoma on biopsy
Nasopharyngeal Tumours
regarded as the optimum technique for differentiat-
ing recurrent tumour from granulation tissue (NG et
al.I999). Contrast-enhanced fat saturation sequences
in particular allow a much better overall examina-
tion such that MRI is even becoming better than
CT for assessing marrow infiltration and thus skull
base involvement in recurrent disease. The skull base
is the most frequent extra-nasopharyngeal site of
recurrent tumour in adult patients, and the para-
pharyngeal space the second-most frequent (NG et
al 1999). Recurrent tumours are classified using the
same TNM classification. The letter or" is used, e.g.
°rT4" or orNl", to differentiate the stage classification
of recurrence from initial stage classification.
Nasopharyngeal asymmetry is a common finding
after radiation therapy and so not all irregular muco-
sal surfaces are caused by tumour recurrence. Slough
or crust may have similar appearances. Asymmetry of
the nasopharyngeal mucosal outline suggests benig-
nity, whereas a lobulated appearance is more typical
of malignancy (CHONG and FAN 1997). Mucosal
thickening and mucositis may persist for years, such
that paranasal sinusitis and mucosal thickening are
common after irradiation for nasopharyngeal carci-
noma. On T2-weighted images, recurrent tumour is
typically of intermediate signal,while sinonasal secre-
tions characteristically display high signal. Tumour
in the paranasal area tends to enhance after gad-
olinium administration, whereas secretions do not
but are surrounded by a rim of intensely enhancing
mucosa. Mature scar tissue should be hypointense
on T2-weighted MRI and show no contrast enhance-
ment, but the simultaneous dynamic processes of
fibrosis and tissue reaction to irradiation often pro-
duce a confusing picture. MRI and CT are therefore
unsuitable as the sole means of screening for recur-
rence. Nasopharyngoscopy is more sensitive in evalu-
ating mucosal lesions and should remain the primary
tool for the detection of recurrence at the primary
site (CHONG and FAN 1997). Cross-sectional imaging
is useful, however, in the detection of tumour recur-
rence in the retropharyngeal nodes, which can only
be detected radiologically. Histological specificity is
not possible with imaging, and the principal roles of
radiology during follow-up are in detecting abnor-
malities and guiding biopsy.
Chest CT, abdominal ultrasonography and 99ffiTc_
MDP bone scintigraphy are necessary to screen for
metastatic disease. Distant metastases are found in
approximately 10% of children and adolescents at
diagnosis. As with many paediatric malignancies,
occult so-called micrometastases are believed to
be present in a larger number of patients but are
167
thought to be eradicated by systemic chemotherapy
(MERTENS et al. 1997). In the era when treatment was
solely with local radiotherapy, up to 50% of patients
suffered relapse at distant sites. Nasopharyngeal car-
cinoma in adolescence and childhood is now rou-
tinely treated with chemotherapy prior to irradiation.
The principal role of surgery is to obtain adequate
diagnostic material from an involved lymph node or
the primary site. Surgically accessible residual disease
after irradiation may also be an indication for surgi-
cal intervention. Radiotherapy doses of up to 60 Gy to
the primary tumour, 40-45 Gy to the neck area and a
boost to affected lymph nodes is currently considered
sufficient for local treatment (MERTENS et al. 1997).
Even with these doses, recurrences are seen in about
one-third of patients (ZUBIZARRETA et al. 2000). There
have been some reports showing that adjuvant inter-
feron-b treatment is useful in immunotherapy for
EBV-associated nasopharyngeal carcinoma (MERTENS
et al. 1997). By contrast, interferon-g has no effect on
nasopharyngeal carcinoma. Although nasopharyngeal
carcinoma may be considered a radio-curable disease,
lowering of radiotherapy doses to avoid late effects in
these children does not as yet appear an option. Late
effects include neck fibrosis, hypothyroidism, chronic
sinusitis, xerostomia and damage to teeth. Long-term
prognosis in young patients is directly related to the
extent of the primary tumour: those with a T1 or T2
tumour have a 75% 5-year survival, but this drops to
37% expectancy for patients with T3-T4 neoplasms
(WERNER-WASIK et al.I996).
12.2.2.3
Lymphoma
Lymphomas constitute 10% of paediatric malignan-
cies in the developed world, and nasal-paranasal and
oropharyngeal lymphomas account for about 10% of
these; in other parts of the globe the proportion of
childhood lymphomas found in the head and neck
can be significantly higher. These head and neck lym-
phomas are considered extranodal lymphomas and
approximately half involve Waldeyer's ring, with
a lower frequency at other sites such as the parana-
sal sinuses, maxilla, mandible, parotid and salivary
glands. There is some disagreement as to whether
Waldeyer's ring should be considered as a nodal or
extranodal site. Seventy percent of Waldeyer's ring
lymphomas are B-celllymphomas, however, in keep-
ing with an extranodal phenotype. In one recent
series of 55 children with head and neck lympho-
mas, involvement of Waldeyer's ring was seen in 45%,
nasopharyngeal disease in 27% and sinonasal disease
168
in another 27% approximately (YARIS et al. 2000).
Among children less than 15 years of age, non-Hodg-
kins lymphoma is nearly twice as common in whites
than in blacks, and two to three times more common
in boys than in girls. Head and neck lymphoma
occurs at a younger median age (5 years) than do
other primary paediatric lymphomas, the median age
for which is 9-10 years (WOLLNER et al. 1990). Lym-
phoma is also discussed in Chap. 19.
The histological classification of lymphoma is
not straightforward and is the source of much con-
fusion. Briefly, classification systems in use include
Rappaport, Kiel, Lukes-Collins, Working Formula-
tion and the REAL (Revised European American
Lymphoma) classification (HARRIS et al. 1994). The
REAL classification, which is an extension of the
Kiel classification, is becoming popular in Europe,
while the Working Formulation is the most widely
used method for lymphoma diagnosis in North
America. Despite some differences, head and neck
lymphomas in children can be generally categorised
as diffuse small non-cleaved cell lymphoma (Lukes-
Collins) or high-grade small non-cleaved celllym-
phoma (Kiel and Working Formulation) (WOLLNER
et al.1990). Unlike adult lymphomas, the vast major-
ity of non-Hodgkin's lymphomas are high-grade
tumours in young patients.
Two-thirds of children and adolescents with non-
Hodgkin's lymphoma have locally advanced or met-
astatic disease at the time of diagnosis (SANDLUND
et al. 1996). Due to the predominance of extranodal
primaries and an unpredictable pattern of spread,
the Ann Arbor classification for Hodgkin's disease
is not adapted to staging childhood non-Hodgkin's
lymphoma. The Murphy system is probably the most
commonly used staging system in routine clinical
practice for children. This staging system is outlined
in detail in Chap. 19. The Murphy system, however,
which refers mostly to the amount of disease out-
side of the primary site, tends to underestimate
the severity of nasal-paranasal, naso- and oro-
pharyngeal lymphoma in young patients, with too
many patients classed as having early-stage disease
(WOLLNER et al. 1990; YARIS et al. 2000). The TNM
staging system, which stresses the local volume and
spread of tumour in addition to the extent of disease
at other sites, appears to correlate better with sur-
vival in these patients (WOLLNER et al. 1990; YARIS
et al. 2000). According to the TNM staging, up to
90% of head and neck lymphomas are stage III or IV
disease. The TNM system does appear to have prog-
nostic value in these tumours and to some extent
explains why intensive chemotherapeutic regimes
K. McHugh
are needed to treat head and neck lymphoma in
children.
Common presentations include cervical lymph-
adenopathy, tonsillar enlargement and orbito-ocu-
lar findings. These can manifest as neck swelling,
sore throat, dyspnoea, earache, epistaxis, hoarse-
ness, toothache, systemic symptoms or proptosis. A
median duration of 30 days' symptomatology (range
6-150 days) was reported by WOLLNER et al. (1990).
Common scenarios include asymptomatic cervical
nodal masses initially mistaken for inflammatory
disease or excessively enlarged tonsils discovered at
surgery for routine tonsillectomy.
The imaging features of head and neck lym-
phomas are relatively non-specific and diagnosis is
dependent on tissue histology with immunopheno-
typing. Relatively homogenous masses with variable
contrast enhancement on CT or MRI are often evi-
dent (Fig. 12.7). TheH~ tends to be much less bone
destruction but larger nodal masses than those seen
in patients with rhabdomyosarcoma. Rim enhance-
ment of the conglomerate masses or nodal necrosis
are sometimes evident. The lesions are generally
hyperintense on T2-weighted MRI. The important
role of cross-sectional imaging in these patients is
to exclude benign causes of head and neck masses,
e.g. branchial cleft or thyroglossal duct cysts. These
latter lesions occur in characteristic locations and
are typically hypointense on Tl-weighted MRI,
whereas lymphomas are often of intermediate signal
intensity. All patients with confirmed lymphoma
should undergo additional routine staging of the
chest and abdomen, preferably with CT.
The prognosis for nasopharyngeal and oropha-
ryngeal lymphomas is worse than that of lympho-
mas in general at other sites (YARIS et al. 2000).
Among the B-cell lymphomas, however, it has a
better prognosis than primary high-grade lym-
phoma of the gastrointestinal tract (WOLLNER et
al. 1990). Overall, between 50%-70% of patients are
cured.
12.2.2.4
Chordoma
Chordoma ongmates from notochordal remnants
and therefore may be found anywhere from the sphe-
noid bone to the sacrum, the two ends of the cra-
niospinal axis being the most common sites. Lesions
affecting the nasopharynx typically arise from the
basisphenoid, but this tumour is extremely rare in
childhood. Chordomas appear as a soft tissue mass
in the nasopharynx with destruction of the clivus,
 Nasopharyngeal Tumours 169

c d
Fig. 12.7a-d. Lymphoma. a, b Sagittal II-weighted MRI before (a) and after (b) gadolinium administration showing a very
extensive enhancing mass lesion replacing all of the nasopharynx, nasal cavity and pharynx inferiorly. A nasotracheal tube is
in situ in this 2 year old. Note also destruction of the clivus, intracranial spread of tumour and posterior bowing of the brain-
stem. c Axial CT in a 9-year-old boy who presented with left supraclavicular adenopathy. A very large homogeneous low-density
lymphoma mass occupies the entire nasopharynx. d Tumour protrudes inferiorly in the same patient into the left side of the
oropharynx and extends laterally to displace and virtually obliterate the left parapharyngeal space. Note also some vascular
displacement on the left

occasionally with some calcification or a sequestrum.
Approximately two-thirds of lesions are calcified.
These tumours are readily demonstrated on CT and
even plain radiographs, but sagittal MRI optimally
defines the lesions, particularly the soft tissue compo-
nent. The mass typically has a heterogeneous appear-
ance on all pulse sequences. Skull base destruction
may be extensive, and the tumour generally shows
intense enhancement after intravenous contrast
administration. Vertebral angiography can also dem-
onstrate the tumour with vessel displacement,
encasement and vascular staining. Preoperative
embolisation is sometimes helpful prior to surgical
resection.
170
12.2.2.5
Craniopharyngioma
Craniopharyngioma is an uncommon neoplasm but
accounts for 6%-8% of paediatric brain tumours
(TAGUCHI et al. 2000). The median age at diagnosis
is 8 years, and the tumour is very unusual before
2 years of age. It is a histologically benign tumour
composed of well-differentiated tissue, but it does
have a tendency to infiltrate adjacent structures. The
mass is usually a suprasellar or intrasellar lesion.
Infrasellar tumour extension occurs in approximately
5% of cases. Spread to the nasopharynx has rarely
been reported, and can occur at disease presenta-
tion or at recurrence (TAGUCHI et al. 2000). Cranio-
pharyngiomas can arise anywhere along the path
of the obliterated craniopharyngeal duct, an embry-
onic tract connecting the pharynx with the pitu-
itary gland. By the time nasopharyngeal spread has
occurred, the mass lesions are typically very large
and origin from the sella or sphenoid bone is difficult
to identify. Solid, cystic and calcified elements are
demonstrable at imaging. The cystic component may
be hypo-, iso- or hyperintense on Tl-weighted MRI,
depending on the amount of keratin, proteinaceous
material or cholesterol present. T2 signal is usually
increased, but variation is also possible. The walls of
most of the cysts show enhancement after gadolin-
ium administration. Treatment is primarily surgical,
probably best performed with a transbasal approach.
The number of children reported with nasopharyn-
geal extension is small, but the outlook is favourable
in some cases at least (TAGUCHI et al. 2000).
12.2.2.6
Esthesioneuroblastoma
Esthesioneuroblastoma arises from the sensory neu-
roepithelium of the olfactory mucosa. It is an
extremely rare tumour that occurs in adolescence
and in the sixth decade of life. The tumour originates
from the superior and lateral aspects of the nasal
cavity near the ethmoid sinuses and cribriform plate.
Although the mass lesion can vary significantly in
size, with extensive bone destruction possible, exten-
sion into the nasopharynx is not generally seen. Para-
nasal sinus involvement and intracranial extension
may be quite extensive, and this lesion should always
be included in the differential diagnosis of mass
lesions in this region. Invasion of the orbit with pro-
ptosis is a recognised manifestation, as is presen-
tation with enlarged cervical nodes (BoBELE et al.
1994). Cyst formation, variable hyperintensity on T2-
K.McHugh
weighted MRI and non-homogeneous enhancement
after contrast administration are relatively common
features. Like neural crest tumours elsewhere, esthe-
sioneuroblastomas express somatostatin receptors.
This can be shown by radionuclide labelling of
octreotide, a somatostatin analogue, and dissemi-
nated disease has been detected by this method
(RAMSAY et al. 1996).
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Part 3 Throat
13 Congenital Neck Masses (Non-vascular)
A.W.DuNCAN

CONTENTS nosis. Malignant lesions are rarely present at birth,

although occasionally cervical neuroblastoma may
13.1 Introduction 175
present at this time. Most congenital masses present
13.2 Imaging Investigations 176
13.3 Lymphangioma 177 in infancy and early childhood. They may present
13.3.1 Embryology of the Lymphatic system 177 because they have become infected. The site alone
13.3.2 Types of Lymphangioma 177 can indicate the probable diagnosis. As a general rule,
13.4 Thyroglossal Duct Cyst 181 most midline lesions are benign. The site is deter-
13.5 Thornwaldt's Cyst 183
mined by the embryology, and even a limited knowl-
13.6 Branchial Cleft Anomalies 183
13.7 Piriform Sinus Fistula (Abscess) 185 edge of the embryology helps to determine the prob-
13.8 Thymic Cyst 186 able diagnosis. Branchial abnormalities develop from
13.9 Cervical Extension of the Mediastinal Thymus 187 paired branchial arches, and therefore lie laterally,
13.10 Dermoid/Epidermoid Cyst 187 usually in relation to the anterior border of the ster-
13.11 "Plunging" Ranula 188
nomastoid muscle. Piriform sinus fistula, which may
13.12 Ectopic Thyroid Gland 188
13.13 Sternomastoid "Tumour" 190 develop into an abscess, is a paired structure and
13.14 Congenital Teratoma 191 therefore lies laterally. Similarly the rare lung hernia-
13.15 Cervical Neuroblastoma 192 tion, bronchogenic cyst, sternomastoid tumour and
13.16 Laryngocele 193 congenital sympathetic chain neuroblastoma, arise
13.17 Lung Herniation 193
from paired structures and will lie laterally. The thy-
13.18 Thyroid Gland Hemiagenesis 194
13.19 Midline Cervical Cleft 194 roid gland, although lying more medial than the
13.20 Bronchogenic Cyst 195 above structures, is a paired structure and a lesion
13.21 Lingual Thyroid Gland 195 arising from one lobe will lie lateral to the midline.
13.22 Congenital Vascular Lesions 195 The embryology of a central structure such as the
13.22.1 Haemangioma 195
thymus and thyroid, which descend into the neck,
13.22.2 Varix of the Jugular Vein 195
13.22.3 Carotid Artery Aneurysm 195 results in pathology along the midline track. Der-
13.22.4 Cervical Aortic Arch 196 moid cysts can lie anywhere, but usually those in
13.23 Rare Congenital Tumours, Cysts and Infections 196 the central nervous system and in the neck are mid-
13.24 Summary 196 line. Fig. 13.1 shows the locations of these congenital
References 196
anomalies.
The presentation of the lesion is also an aid to the
diagnosis. Many congenital lesions will present in the
newborn period or early years, although some have
13.1 a delayed appearance, becoming symptomatic due
Introduction to enlargement or infection. Inflammatory lesions
rarely present at birth but develop in early childhood,
Neck masses are common in the paediatric age group. and some of them may be secondarily infected con-
Most are congenital or inflammatory in origin, the genital lesions. Malignant lesions are extremely rare
remaining are vascular or, rarely, malignant lesions. in the neck at birth and usually present in older chil-
The site and age at presentation can strongly aid diag- dren and adolescents. Inflammatory lesions tend to
be painful and tender with erythema, whereas malig-
A.W.DuNCAN nant lesions tend to be painless solid masses.
Consultant Paediatric Radiologist, Senior Clinical Lecturer in
Paediatric Radiology, University of Bristol, Bristol Royal Hos- Masses that present in older children can often
pital for Children, Paul O'Gorman Building, Upper Maudlin be differentiated on the basis of the history, with
Street, Bristol, BS2 8BJ, UK congenital masses being present for a considerable
176
UNGUAl.
TMYROID Gl.AHD:
MOSTCOIlIlON
LESS COMMON
SUBUNGUAl.
.....-"-------BRANCHIAL VESTIGE
STERNUM - - - - - - j
-r-----
period, inflammatory masses for a few days, and neo-
plastic lesions for a few months.
The most common neck mass in a young child is
lymphatic malformation or cystic hygroma.
13.2
Imaging Investigations
A tentative diagnosis can be made with a fair degree
of accuracy on the basis of history and clinical exami-
nation, but the imaging investigations add confir-
matory evidence and also avoid potentially serious
errors such as removal of the patient's only thyroid
tissue in an ectopic thyroid gland.
The first line of investigation is usually ultraso-
nography, which can differentiate cystic from solid
masses and is invaluable since most congenital
and inflammatory lesions have a cystic component
(TELANDER and FILSTON 1992). It can also show
the extent of the lesion if small, but larger lesions
are better evaluated by magnetic resonance imaging
(MRI). Calcifications and bone erosion can be better
identified by plain films or computed tomography
(CT), but these are rarely of any clinical value, while
both CT and plain radiography add less in terms
of spatial relationships than MRI and also irradiate
the child. However, if MRI is not available then CT
can show the lesion. Contrast enhancement is usually
only necessary in CT for showing the vessels, as most
A. W.Duncan
(CARTILAGE OR BOtlE)
Fig. 13.1. The anatomical sites of congenital
SUBSTERNAL TMYROID neck masses
congenital lesions will show very little enhancement
unless there is infection; in the latter case there will be
enhancement of the capsule or surrounding tissues.
In general terms, for MRI, T1 weighting gives good
spatial relationships and T2 will show any oedema.
STIR sequences with fat suppression show oedema
to greater advantage, but will also confirm the fat-
containing structures seen in teratomas. Contrast
enhancement is usually not necessary. Coronal and
axial scans will show most lesions, although midline
lesions are better seen with the sagittal sections.
Cystic lesions usually have a low signal on T1 and a
high signal on T2 consistent with fluid, although this
may be modified if there has been haemorrhage. The
wall of the cyst and surrounding tissue is usually of
low signal on T2 but can be high if there is inflam-
mation, and may at times be difficult to differentiate
from a neoplastic lesion.
Occasionally it may be necessary to perform con-
trast studies if there is encroachment on the alimen-
tary tract causing dysphagia or there are lesions asso-
ciated with a sinus tract. Lesions associated with a
percutaneous tract ending blindly can be shown by
water-soluble contrast, but it is usually considered
meddlesome to do this as it has the potential for
introducing infection.
In most cases small lesions can be adequately
assessed by ultrasound. They are described below in
relative descending frequency which will vary with
age of the child.
Congenital Neck Masses (Non-vascular)
13.3
Lymphangioma
These are congenital lymphatic malformations (LM's),
usually of a localised nature, and involve dilated lym-
phatic spaces. They can occur anywhere in the body
but are most common in the head, neck and axilla.
LM's can be characterized by the size of the cysts pres-
ent into microcystic, macrocystic or mixed lesions
(MULLIKEN et al. 2000). Conventionally LM's have
been subdivided into 1) cystic hygroma, 2) cavernous
lymphangioma, 3) capillary lymphangioma, 4) vascu-
lolymphatic lymphangiohaemangioma and they will
be discussed under these subheadings.
Most lymphangiomas present at birth, and 90%
within the first 2 years oflife. 75% oflymphangiomas
occur in the neck, most commonly in the posterior
triangle, sometimes with extension into the medias-
tinum. Presentation at birth is most commonly as an
asymptomatic mass, although if it is large in size it
may cause respiratory difficulty due to compression
of the airway. The morbidity or mortality attached
to lymphatic malformations, unless they are associ-
ated with chromosomal abnormalities such as Turn-
er's syndrome and fetal hydrops, is low.
13.3.1
Embryology of the Lymphatic System
To understand the types of lymphangioma, a review
of the theories behind the embryology is helpful. Fol-
lowing arterial and venous development in the jugu-
lar region there are endothelial buds which sprout
from the veins and unite to form plexuses. These
develop into paired jugular sacs. Later the jugular
sacs enlarge and maintain a single communication
with the internal jugular vein.
There is continued growth with extensions into
the soft tissues and between muscles, to the poste-
rior compartment of the neck, and other extensions
between the structures of the neck. This sprouting
continues, ultimately forming lymph vessels perme-
ating all the tissues, following the blood vessels and
their branchings.
There are various theories of the pathogenesis of
lymphangioma. These include failure of the lym-
phatics to drain into the veins results in isolated lym-
phatic channels, particularly the larger and more cen-
tral cystic hygromas (WEINGAST 1988). Other authors
favour sequestration of the lymphatic tissue early in
embryogenesis with a failure to join the normal central
lymphatics (PHILIPS 1981). This explains the periph-
177
eral location of capillary or cavernous lymphangio-
mas. The small lymphatic channels are presumably
related to their primordium at which sequestration
occurs, which results in a fine network of lymphatics.
Yet another theory postulates abnormal budding
of lymphatic structures. These aberrant buds lose
their connections with the lymphatic primordia and
eventually canalise to form lymphatic cysts (LEE
1980). These cysts can grow in an uncontrolled, disor-
derly manner and can penetrate and destroy anatom-
ical structures. This helps to explain the permeative
nature of many lymphatic malformations, particu-
larly of the cavernous lymphangiomas. The aberrant
primary bud may explain the formation of the more
dilated cystic hygromas near the primordial lymph
sac (ZADVINSKIS et al. 1992).
Athough theories of pathogenesis related to the
embryology can explain some of the appearances, some
authors feel that many of the appearances are related
to the anatomical location which determines the histo-
logical characteristics. Where there is loose fatty tissue
such as in the neck, growth is unimpeded, leading to the
formation of a macrocystic LM or cystic hygroma. In
other locations such as the cheek or tongue, expansion
is curtailed, resulting in a mixed lesion. Where the tissue
is much tougher, such as in the epidermis and dermis,
the malformation is smaller and results in the forma-
tion of a microcystic LM (BILL and SUMNER 1965).
13.3.2
Types of Lymphangioma
13.3.2.1
Cystic Hygroma
Cystic hygroma is the most common form of LM and is
usually macrocystic. It usually occurs in isolation, but
it may occur with more generalised abnormalities such
as Turner's syndrome (45 XO chromosome karyotype).
These are frequently seen in aborted fetuses and are
believed to form as a result of failure of the juguloaxil-
lary lymphatic sac to drain into the internal jugular
vein (SMITH 1982). The accumulation of fluid causes
progressive dilatation of the lymphatics, resulting in
a cystic hygroma. There is secondary dilatation of
the lymphatic channels that drain the extremities
and chest, resulting in peripheral lymphoedema and
hydrops. If lymphatic drainage is re-established, the
cystic hygroma may regress and result in the typical
neck webbing seen in Turner's syndrome (SMITH 1982).
Whatever the true embryology of these malformations,
in all instances obstruction is a feature (Fig. 13.2).
178 A.W. Duncan

difficulty. Extension of such lesions into the thoracic

Fetal cystic hygroma
inlet may result in stridor, cyanosis or apnoea when
impinging on the trachea, or dysphagia when imping-
ing on the oesophagus or tongue.
Localised lymphatic
Plain radiographs of the neck and chest may show
Generalised lymphatic
defect defect extension into the mediastinum and displacement and
compression of the airways. Ultrasonography is the
easiest non-invasive investigation and is usually the
Severe Mild first line of study; it will demonstrate multiple septated
cystic spaces filled with hypoechoic fluid (Fig. 13.3a).
No hydrops
These may be infiltrative, making it difficult to dis-
tinguish them from adjacent tissue. If complicated
by haemorrhage into the cystic structures, the fluid
Progression Resolution becomes echogenic (Fig. 13.3b) and may result in

Isolated cystic Webbed neck

hygroma Peripheral oedema
Abnormal
lymphangiogram

Fig. 13.2. Course of fetal cystic hygroma. (Reproduced with

permission from ZADVINSKIS et al. 1992)

The solitary cystic hygroma is the most common

presentation, resulting from failure of re-anastomosis
and failure ofthe lymphatic system to drain. This results
in multilocular cystic malformations which occur in
approximately 1in 12,000 births (STRINGEL 1993). They
have a predilection for the left side of the neck, most
probably because the thoracic duct enters the subcla-
a
vian vein on that side. They are lined by endothelial
cells and produce lymphatic fluid. This results in a grad-
ual but sometimes rapid enlargement with compres-
sion and stretching of the adjacent structures. Eighty
percent of cystic hygromas occur in the neck.
Most cystic hygromas (75%-80%) are present at
birth, 90% by the age of 2 years (TELANDER and
FILSTON 1992) and 3%-10% extend into the mediasti-
num (Castellote et al. 1999). They are usually discrete,
soft, mobile, painless, non-tender, cystic masses, usu-
ally in the posterior triangle of the neck, and vary
in size up to several centimetres in diameter. As they
contain fluid they transluminate. Primarily they are
painless, but one-third present with infection and may
show clinical features of erythema or tenderness. They
may rapidly grow in size as a result of this infection b
or haemorrhage into the cyst with or without trauma. Fig. 13.3a, b. Cystic hygroma. a Ultrasonogram of a small cystic
Lymphangiomas located in the floor of the mouth hygroma where there are multiple small cysts all of which are
and tongue are especially prone to bleed, leading to hypoechoic, indicating there has been no haemorrhage. The
smaller cysts tend not to have any haemorrhage and are there-
enlargement and airway compression (VAZQUEZ et al.
fore hypoechoic. b Ultrasound shows large cysts, which are
1995). Unless complicated, they are often asymptom- hypoechoic, containing fluid. Others are hyperechoic, showing
atic, but because of their large size they may cause their proteinaceous nature, which is most likely due to some
compression of the airways and result in respiratory haemorrhage into the cyst
 Congenital Neck Masses (Non-vascular) 179

fluid levels. Where the haemorrhage is mixed with

the fluid uniformly, the cystic spaces may simulate a
solid structure due to the echogenic nature of the fluid
(Fig. 13.3b), although the movement of the echogenic
material under transducer pressure usually identifies
areas of haemorrhage. A larger lesion will be better
demonstrated by CT or MRI (Fig. 13.4); MRI is the
investigation of choice (Fig. 13.5) since it can evaluate
the extent of the lesion and, particularly, its extension
internally into the vital structures (Fig. 13.6) and down
into the mediastinum. A low signal on II-weighting
and a high signal on TZ-weighting will indicate fluid
content. It may show fluid layering due to haemor-
rhage. Intravenous contrast medium will demonstrate
its relationship to the vessels, however it is usually
unnecessary to give contrast medium. In CT and MRI a
contrast-enhanced scans may show enhancement of
the septa (Fig. 13.4). MRI, because of its multi-planar
nature, can best show the structure and may show
associated venous anomalies (DALLEY 1996). Haemor-
rhage into the lymphangioma may cause acute presen-

b
Fig.l3.5a,b. Cystic hygroma. a CT scan shows a massive lymph-
angioma involving both sides of the neck. The hypodense
areas are due to fluid-filled cystic spaces. The more solid
elements could be residual normal tissue or microcystic
lymphangiomatous component of the lymphangioma. b Same
patient. Sagittal section II-weighted MRI shows the lymph-
angioma much better, demonstrating extension to the floor of
a the mouth. The brighter signal in the lower portion may well
represent small areas of haemorrhage

..
Fig. l3Aa, b. Cystic hygroma. a CT with contrast shows a cystic
hygroma in the neck displacing the oropharynx. It has mul-
tiple enhancing septa. It is of uniform low attenuation, indicat-
ing fluid. b Coronal T2-weighted MRI shows the septa well
b without contrast medium
180 A.W.Duncan

Fig. 13.6. Cystic hygroma. T2-weighted MRI shows the more

infiltrative nature of some cystic hygromas, with medial exten-
sion into the posterior pharyngeal space
" '~~.
\

Fig. 13.7a, b. Cystic hygroma with recent haemorrhage. a Plain

j. '" .' 1

~ -~
film shows the massive prevertebral soft tissue opacity dis-
placing the airway forwards. b Same patient. CT scan shows
the massive cystic hygroma displacing the airway forwards -~·- -
.'c .• ~ ..
and to the left side. The central area of increased density prob-
ably represents haemorrhage, with some fluid levels of blood
and clear fluid of the cystic hygroma b

tation due to its sudden increase in size with associ-
ated respiratory difficulties (Fig. 13.7).
Although spontaneous regression can occur, it
only occurs in 6% of cases (CASTELLOTE et a1. 1999).
Aspiration alone is often unproductive as re-accu-
mulation of fluid occurs, but there has been some
success with various sclerosing agents with complex
cystic hygromas that cannot be completely surgically
excised.
A full account of the imaging and treatment of
LM's is given in Chap. 20.
13.3.2.2 Cavernous Lymphangioma
Cavernous lymphangioma is composed of mildly
dilated cavernous lymphatic spaces that are much
smaller than the cystic hygroma and are usually sub-
cutaneous in location. They occur in the tongue and
salivary glands. They penetrate between structures
rather than destroying them. They therefore have
less clear-cut margins than cystic hygroma. As they
arise in more solid structures which give resistance
to growth, they tend to be permeative and smaller.
They have a low signal on Tl-weighted MRI and a
high signal on T2-weighted scans.
13.3.2.3 Capillary Lymphangioma
Capillary lymphangioma is not only the least
common form of lymphangioma and not commonly
seen in the neck, but it is also uncommon in children.
Up to 25% of these lesions are first seen in patients
over 45 years old.
13.3.2.4 Lymphangiohaemangiomas
Lymphangiohaemangiomas are part of a vascular
lymphatic malformation, probably form from an
embryologically abnormal bud and retain their origi-
nal venous communication.
Ultrasound may show multiple high echoes from
the walls of these small cysts. There may be larger
vessels passing through the mass on its periphery,
which on Doppler imaging can often show blood
flow. This, however, depends on the amount of the
haemangioma component and the degree of flow. The
Congenital Neck Masses (Non-vascular)
investigation of choice is MRI, which can demon-
strate the mass - usually high signal on T2-weighted
scans - but without the large cystic spaces. If MRI is
not available then CT scans will show a low-attenua-
tion mass between vessels, and the vascular areas will
enhance with contrast medium.
13.4
Thyroglossal Duct Cyst
These occur most commonly in the region of the hyoid
bone and are the most common midline lesion of the
neck in children, accounting for 70% of all congenital
neck lesions (SANTIAGO et al. 1985). They are rarely
noted at birth, but usually present in the first 5 years
of life, often with infection at between 2 and 10 years.
A third of patients present at over 20 years of age
(BROWN and AZIZKHAN 1998). Infection is common
due to communication with the base of tongue and
consequent exposure to oral bacteria. Embryologically
they form from a persistence of the thyroglossal duct,
a remnant of which is seen in 7% of the population
(EWING et al. 1999). The thyroid gland forms as a
diverticulum from the anterior wall of the pharynx,
later identified by the foramen caecum in the poste-
rior tongue. This diverticulum descends, reaching its
normal position anterior to the trachea. During its
descent there is a connection by the thyroglossal duct
to the tongue, which ultimately disappears.
The hyoid bone develops simultaneously from the
second branchial arch and thus this duct, after passing
through the tongue, maintains an intimate relation-
ship with the central portion of the hyoid bone to con-
nect with the thyroid gland (ELLIS and VAN NOSTRAND
1977). This probably explains the common occurrence
of the thyroglossal duct cyst at the hyoid bone.
Persistence of the thyroglossal duct may occur
and, if segments of this duct fail to regress, may
differentiate into epithelial blind cysts (NOUJAIM et
al. 1997). When the epithelial cells cease to remain
inactive, secretions are produced and form enlarging
cysts (TODD 1993). More than 50% contain normal
thyroid tissue in their walls, which may be func-
tional (OKSTAD et al. 1986). A thyroglossal cyst can
lie anywhere from the foramen caecum to the normal
thyroid position suprasternally (WADSWORTH and
SIEGEL 1994). The cysts lie in the midline, 80% at or
just below the hyoid bone. Some reports suggest over
95% split equally at or below the hyoid bone (AHUJA
et al. 2000a). Occasionally they may be slightly lat-
eral to the midline. There is usually no external open-
181
ing unless there is infection resulting in spontaneous
drainage, which helps to differentiate it from bran-
chial cleft cyst (MICKEL and CALCETERRA 1983). If
the tongue is protruded, the cyst moves cephalad
because of its connection with the base of the tongue.
The cyst itself is lined by epithelium and contains
colourless, viscous secretion.
Occasionally thyroglossal cysts lie in unusual sit-
uations, 3% being sublingual and 10% suprasternal
(ROWE 1995). They are usually soft, smooth and non-
tender although they will become warm, tender, pain-
ful and oedematous if infected, and may well have a
fistula draining externally.
The typical ultrasonographic appearance was orig-
inally described as an anechoic, well-defined cyst with
increased acoustic through-transmission, between 5
mm and 25 mm in diameter, sometimes with a small
beak at the attachment to the thyroglossal duct (Fig.
13.8). Most lesions have thin walls, they are usually
unilocular. The cyst fluid is usually described as
anechoic, but more recent studies suggest that fre-
quently it is hyperechoic, probably due to protein-
aceous material secreted by the wall lining (WAD-
SWORTH and SIEGEL 1994). In a more recent study
anechoic lesions were uncommon (13%), complex
heterogeneous echo patterns were more frequent
(30%), and a uniform homogeneous pseudo-solid
appearance was the most common (AHUJA et al.
2000a). The last appearance, however, can be clarified
by applying pressure to the transducer, which will
disturb the proteinaceous contents of the fluid, pro-
ducing echoes which move, showing the true cystic
nature of the structure (AHUJA et al. 2000A). The
complex heterogeneous internal echogenic appear-
ance is caused by debris and septa. Posterior enhance-
ment, which occurs in cystic lesions, only occurs in
Fig. 13.8. Thyroglossal duct cyst. Ultrasound shows the typi-
cal hypoechoic fluid in the cyst, with a small beak (arrows)
representing the thyroglossal duct pointing cephalad
 182
approximately half of the cases, and is less likely to
be seen in the pseudo-solid type. Most lesions are
unilocular with thin walls, but some are thick-walled
with internal debris due to inflammation. Although it
is uncommon, about 1% of duct cysts may be malig-
nant (WEISS and ORLICH 1991), and therefore the
presence of a true solid component in the cyst sug-
gests the possibility of malignant degeneration into
carcinoma, usually a papillary carcinoma (HAYES and
MARLOW 1968) - although this is very rare in chil-
dren (DAVIES and CYCOES 1977).
Ultrasound should also show the presence of a
normal thyroid gland.
MRI is usually unnecessary but clearly shows the
lesion with low signal on Tl-weighted scans (Fig.
13.9a) and high signal with T2 weighting due to the
fluid within the cyst, with the sagittal sections show-
ing the superior extent of the thyroglossal duct (Fig.
13.9b). If MRI is not available, CT shows the lesion,
which occasionally can be very large (Fig. 13.10).
The clinical differential diagnosis includes ecto-
pic thyroid tissue, dermoid cyst, sebaceous cyst, sub-
mentallymphoiditis, cystic hygroma, haemangioma,
lipoma and, exceedingly rarely, neoplasm. Lingual
and sublingual thyroid may simulate thyroglossal
duct cyst, and inadvertent removal of the only thy-
roid tissue will produce hypothyroidism.
Ultrasound will differentiate solid from cystic
structures and therefore exclude ectopic thyroid
tissue, dermoid cyst and sebaceous cyst. Lipomas
have a feathery pattern with multiple bright echoes
at right angles to the transducer surface (AHUJA et al.
1998). Cystic hygromas have multiple cystic spaces.
They also tend to lie more laterally. Off-midline thy-
roglossal duct cysts may clinically be mistaken for
branchial cleft cysts, and may be a problem as these
two entities show similar sonographic appearances
a b GOLDING 2000)
A. W.Duncan
(AHUJA et al. 2000b). Lymphadenopathy is usually
easy to differentiate, being hypoechoic with echo-
genic hila and vascular malformations show flow
with Doppler ultrasonography. There may be phlebo-
liths in some cases.
The treatment for non-infected cases is complete
excision by the Sistrunk technique (SISTRUNK 1928).
This involves excision of the thyroglossal duct with a
central portion of the hyoid bone and the thyroglos-
sal tract that will ultimately open into the oral cavity
and foramen caecum.
Some authorities suggest that thyroid function
tests and isotope scanning should be carried out
prior to surgery to ascertain that there is normal
function. A euthyroid patient with midline and infra-
hyoid thyroglossal cyst should be tested for thyroid
stimulating hormone (TSH) (RADKOWSKI et a1.1991).
If TSH is normal, radioisotope scintigraphy is unnec-
essary. TSH, radioisotope scintigraphy and MRI
should be carried out in suprahyoid lesions including
the lingual site (TODD 1993). Routine preoperative
radioisotope scanning to ensure that the thyroglos-
sal duct does not contain thyroid tissue is generally
not recommended because the surgery would have
to take place irrespective of the findings. If there
is significant thyroid tissue on a pathological speci-
men, postoperative thyroid function tests will iden-
tify patients requiring replacement therapy (FILSTON
1989). In view of the attendant risk of removing ecto-
pic thyroid tissue which has been mistaken for thy-
roglossal duct cysts, ultrasonography is imperative in
all cases prior to surgical removal of the mass, to con-
firm the presence of a normal thyroid gland (BREWIS
et al. 2000). Thyroid function tests and radioisotope
scans are recommended if the patient is hypothy-
roid or when no gland is seen on ultrasound (LIM
DUNHAM et al. 1995).
Fig. 13.9a, b. Thyroglossal
duct cyst. a Axial Tl-
weighted image of thyro-
glossal duct cyst which
appears isodense to muscle
and splits the anterior
strap muscles with an
anterior left paramedial
component. b Sagittal T2-
weighted image. The high
signal in the thyroglossal
duct cyst extends in a
narrow tract from the level
of the hyoid bone down
to the thyroid. (Repro-
duced with permission
from HARDING HAM and
Congenital Neck Masses (Non-vascular)
Fig.B.10. CT. Large thyroglossal cyst from base of tongue dis-
tending the suprahyoid portion of the neck. (Reproduced with
permission from TODD 1993)
13.5
Thornwaldt's Cyst
This cyst of Thornwaldt's bursa forms as a bulge on
the posterior-superior wall of the nasopharynx due
to closure of the sac's drainage duct. The pharyn-
geal bursa is an embryonic remnant occurring in 3%
of healthy adults (BIURRuN et al. 1992) due to an
adhesion between the notochord and the pharyngeal
ectoderm. It is usually small, although it may reach
several centimetres in diameter. It is usually of no
clinical significance unless it becomes infected. If it
does become symptomatic it presents between the
ages of 15 and 30 years. It is usually found as an
incidental finding on an MRI scan (BOUCHER et al.
1990), with the typical appearance of fluid-filled cyst,
low-signal on Tl- and high-signal on T2-weighted
sequences (EDWARDS 1993), and in one series has
been reported in as many as 20% of cases on MRI,
although without histological proof (BATTINO and
KHANGURE 1990).
13.6
Branchial Cleft Anomalies
Branchial cleft anomalies include cysts, sinuses, fis-
tulae and cartilaginous remnants with skin tags. They
183
are a third as common as thyroglossal duct cysts
(TODD 1993). Internal cysts and fistulae of the phar-
ynx are rare. The nomenclature of branchial deriva-
tives is as follows: a fistula is a patent, duct-like struc-
ture, having both external cutaneous and internal
pharyngeal orifices. An external sinus is blind-end-
ing space extending inwards from the skin. An inter-
nal sinus is a blind-ending space extending outwards
from the orifice in the pharynx. Both these sinuses
are thought to be non-obliterated branchial pouches.
Cysts are spherical or ovoid spaces with no com-
munication to the pharynx or skin, lying along the
tract of the branchial pouch or cleft (SKANDALAKIS
and TODD 1993). Ninety-five percent of branchial cleft
derivatives arise from the second cleft and occur at
the anterior border of the sternomastoid and near the
angle of the mandible (HARNSBERGER 1995). First
branchial cleft anomalies usually give rise to lesions
in the submandibular and preauricular regions, e.g.
cyst near the lower pole of the parotid, and are rare.
Third and fourth cleft anomalies are even rarer and
are potential tracts that may give rise to fistulae (Har-
dingham and Golding 2000). Occasional deep cysts
have been attributed to third and fourth pouch rem-
nants (Gray and Skandalakis 1972).
Branchial cleft tracts or sinuses are most com-
monly seen in the first decade; branchial cleft cyst
usually presents in the second decade. The sinuses
and fistulae are seen along the lower third of the ante-
rior border of the sternomastoid muscle. The open-
ing is usually of pin-point size and exudes mucoid
material. They may appear bilaterally. Second bran-
chial cleft cysts can occur along the same tract as fis-
tulae from the supraclavicular region, from behind
the mandible to the tonsillar fossa. The most common
site is above the level of the hyoid bone in a higher
location than fistulae, most commonly near the bifur-
cation of the carotid artery just below the angle of
the jaw. Branchial cleft cysts may arise if the sinus
tract orifice becomes occluded (BRowN and AZIZ-
KHAN 1998). Clinically they appear, unless infection
intervenes, as painless swellings along the upper third
of the anterior border of the sternomastoid behind
the angle of the mandible. They range in diameter
from 1 to 10 em and usually do not have any connec-
tion to the exterior (TELANDER and FILSTON 1992),
although a sinus tract or fistula may open anteriorly
above the clavicle or in the tonsillar fossa (HARDING-
HAM and GOLDING 2000). They present in infancy or,
more often, later, in the young adult, because of infec-
tion or trauma. Branchial vestiges may occur when
there is failure of disappearance of branchial carti-
lages, apart from those which form ligaments and
 184 A. W.Duncan

bones. Cartilaginous or bone remnants may very
rarely present in infancy, embedded in the anterior
border of the lower third of the sternomastoid
muscle.
Diagnosis in many cases can be made by inspec-
tion. Sinus tracts usually do not require any investi-
gation, and the use of water-soluble contrast is usu-
ally considered inappropriate because of the risk of
infection (TAPPER 1993).
Branchial cleft cysts can be identified by ultra-
sound, which shows the location of the cyst anterior
to the upper portion of the sternomastoid muscles
and lateral to the carotid sheath. It may have high
echogenicity due to cholesterol crystals,keratin,cellu-
lar debris or secondary infection, and have a pseudo-
solid appearance (REYNOLDS and WOLINSKI 1993). If
further evaluation is needed, contrast-enhanced CT
demonstrates a uni- Olr multilocular cyst with a thin
uniform wall. The contents are of water density or
may be of higher attenuation if there is infection. A
wall does not generally enhance unless infection has
occurred.
MRI demonstrates the anatomy to much greater
advantage. The lesion is usually seen as a rounded
cyst posterior to the mandible and anterolateral to
the major vessels, often displacing the sternomastoid
muscle posteriorly. A beak extending between the
internal and external carotid arteries (Fig. 13.11)is
pathognomonic for second branchial cleft cyst (HAR-
DING HAM and GOLDING 2000). On MRI the cyst con-
tents, like any fluid, show as low signal on Tl- and
high signal on T2-weighted images. If there are blood,

a b

Fig. B.lla-c. Second branchial cleft cyst. a Axial and

b coronal T2-weighted images show a cyst in the right
posterior submandibular region with a beak pointing
towards the pharynx. c Axial STIR image. A large left
second branchial cleft cyst lies between the subman-
dibular gland anteriorly and the sternomastoid mnscle
posteriorly with the carotid artery displaced medially.
(Reproduced with permission from HARDING HAM and
c GOLDING 2000)
 Congenital Neck Masses (Non-vascular) 185

a b
Fig. B.12a, b. Infected second branchial cleft cyst. a Axial CT. The cyst has a thick enhancing wall due to
infection which makes it indistinguishable from a simple abscess or from a cystic neoplasm on imaging. b MRI
STIR image. This infected cyst has extensive surrounding oedema and may well be mistaken for a neoplasm.
It would therefore require biopsy in addition to drainage. (Reproduced with permission from HARDING HAM
and GOLDING 2000)

protein or cholesterol crystals in the cyst, the Tl-
weighted images may have a higher signal. A septum
may be identified within the cyst and the cyst is
demonstrated within the carotid sheath. If there is
infection, the walls become irregular and thick (Fig.
13.12a) with internal debris and lymphadenopathy.
This, with surrounding oedema, may well have the
appearance of a malignant process (Fig.13.12b).
The differential diagnosis includes necrotic neural
tumour, cervical abscess, submandibular gland cyst,
cystic lymphangioma, necrotic malignant tumour
and inflammatory lymphadenopathy (HARDING HAM
and GOLDING 2000). Early surgical excision is advised
because of the high risk that the cysts may become
infected.
13.7
Piriform Sinus Fistula (Abscess)
The piriform sinus is a rare branchial pouch anomaly
(Choi and Zalzal 1995). Most piriform sinus fistulae
are located on the left side of the neck, sometimes with
a sinus tract through the left lobe of the thyroid gland.
The sinus tract extends from the apex of the piriform
sinus to the thyroid region. It is rarely detected unless
infected, when it presents as a neck abscess, draining
sinus, acute suppurative thyroiditis or even medias-
tinal abscess (LEE 1999). The fistulae may present
in childhood or adulthood. They commonly present
as painful neck swellings, with patients experiencing
fever and painful dysphagia over a period of years
from childhood. Often the patients have undergone
multiple surgical procedures with only temporary res-
olution of the abscess. There is no gender preference
and patients have been reported from as early 2 days
to as late as 67 years of life (BURGE and MIDDLETON
1983; PARK and PARK 1993). 93% of the fistulae
are left-sided (GODIN et al. 1990), although bilateral
and right-sided presentations have been recorded.
Although there may be recurrent episodes, the first
symptoms start before 14 years of age (LEE 1999).
Contrast studies usually demonstrate the fistula with
a tract running from the left piriform fossa to the
exterior in the lower neck (Fig. 13.13). It is advisable
to perform the contrast study 2 months after acute
infection since the oedematous tract may not permit
passage of contrast into the tract (LEE 1999). The
fistula can also be demonstrated by endoscopy, but
false negative results may occur (COTE and GIANOLI
1996). In the acutely infected stage, CT or MRI will
delineate the extent of the infection. Treatment is by
complete excision of the fistulous tract, performed
soon after the contrast study when the patient has
been free of infection for a period of time.
186
Fig. 13.13. Piriform sinus fistula. Barium swallow demon-
strates a fistula tract extending from the apex of the left piri-
form sinus to the lower neck near the clavicle. (Reprinted with
permission from LEE 1999)
13.8
Thymic Cyst
Thymic cysts originate from the persistence or
degeneration of the thymopharyngeal ducts. They are
known as one of the rarest congenital neck masses,
but are probably under-recognised since many are
asymptomatic and may well be discovered inciden-
tally (SPIGLAND et al. 1990). They are usually on the
left side of the neck and in about 50% of cases are
continuous with the mediastinum, due to the fact that
the thymus embryologically develops in the neck and
migrates to the superior mediastinum. This medias-
tinal extension requires different management from
other congenital neck masses (KELLEY et al. 1997).
The thymus develops as an outgrowth from the ven-
tral aspect of the third pharyngeal pouch, which
divides into a dorsal wing, to become the inferior
thyroid gland, and a ventral wing, which becomes the
thymus gland (SPIGLAND et al. 1990). The thymus
descends into the mediastinum. It is therefore not
uncommon for thymic tissue to remain in the neck:
prevalence has been reported to be as high as 21 %
A. W.Duncan
(LAU et al. 1984). These thymic anomalies may be
solid or cystic. The solid thymic tissue is most likely
due to arrest of thymic tissue during the descent of
the gland; these entities are usually small and do
not present clinically. Cystic thymic tissue usually
presents clinically, similar to other congenital neck
anomalies. There are several theories as to the origin
of the thymic cyst, but the most plausible are cystic
degeneration of the Hassall's corpuscles, and cystic
change to the remnants of the thymopharyngeal duct
(SPEER 1938; SPIGLAND et al. 1990). This duct forms
as a tubeless structure by elongation of the dorsal
wing of the third pharyngeal pouch. It usually atro-
phies and disappears, but may remain and become
cystic (KELLEY et al. 1997). Most cysts are multilocu-
lar with clear or straw-coloured fluid. Occasionally
they may be semi-solid with necrotic debris and old
blood. Cholesterol crystals have been found within
the lumen, suggesting previous haemorrhage. Ulcer-
ation of the epithelial wall occurs, and there may be
infection resulting in fibrous tissue development. The
cyst wall can vary in thickness from a few millimetres
to a centimetre (KELLEY et al. 1997).
Cervical thymic cysts usually present in the first
decade of life and 75% at less than 20 years. There is
2:1 male-to-female dominance. The cysts are usually
solitary but may be multiple (HYDE et al. 1944). Most
patients have an antecedent history of the presence
of mass for 6-9 months, sometimes presenting or
increasing in size due to infection or haemorrhage
(KELLEY et al. 1997). Fluctuation in size with recent
upper respiratory infection is a relatively common
finding (WAGNER et al. 1998). The cysts are found
in the lower third of the neck anterior to and extend-
ing beneath the sternomastoid muscle, but they may
occur in the trachea, posterior pharynx and piriform
sinus. Dysphagia, dyspnoea, hoarseness or cervical
pain occurs in up to 10% of patients due to com-
pression and displacement of the adjacent structures.
With large congenital thymic cysts, severe respiratory
compromise may occur, especially in neonates, due
to extrinsic compression or intrinsic obstruction by
the mass within the trachea. This is particularly the
case if there is mediastinal extension. The mass may
extend into the mediastinum as a solid or cystic mass
or a fibrous cord. Occasionally there may be vocal
cord paralysis due to traction on the recurrent laryn-
geal nerve. Pericardial tamponade has been reported
(McLEOD and KARANDY 1981). Valsalva manoeuvre
may produce transient increase in size due to vascu-
lar engorgement or transmitted intrathoracic pres-
sure (KELLEY et al. 1997). This does not occur with
a branchial cyst, which helps differentiate the two
Congenital Neck Masses (Non-vascular) 187

lesions. Most thymic cysts are congenital in origin, gery. Partial excision of the cyst may be necessary
but infection, neoplasm, radiation therapy, trauma to relieve symptoms in the neonate unless separate
and thoracotomy may all be aetiological agents mediastinal thymic tissue has been identified by
(MURAYAMA et al.1995). The clinical differential diag- imaging (GILMORE 1941; SPIGLAND et al. 1990).
nosis includes cystic hygroma, cystic thymic tumour
or teratoma with cystic change, abscess, lymphade-
nopathy, thyroid adenoma, parathyroid cyst, bran-
chial cleft cyst, dermoid and epidermoid cyst, or, if 13.9
midline in location, thyroglossal duct cyst (KELLEY et Cervical Extension of the Mediastinal
al. 1997; CASTELLOTE et al. 1999). Thymus
The first imaging modality for differentiating these
lesions is ultrasound. A thymic cyst may appear as When there is incomplete descent of the thymus, it
a homogeneous, non-homogeneous or cystic mass may remain as a solid midline structure at the tho-
(KELLEY et al. 1997). It may show mediastinal exten- racic inlet. Although up to 40% of infants may have
sion, and if this is suspected then a chest X-ray is thymic tissue in the neck, it is only rarely that it
required. This may be more difficult to evaluate in presents as a small midline mass (ZARBO et al. 1983;
younger children under 2 years of age when the BENSON et al. 1992). It may lie laterally, more com-
thymus is normally present. If the cyst is large, MRI monly on the left side. Most are asymptomatic, apart
is the investigation of choice as it shows the detailed from the neck swelling, but hypertrophied tissue may
anatomy in multiple planes as well as better tissue rarely cause dyspnoea or dysphagia due to compres-
characterisation. The cyst is well defined, often with sion (LEWIS 1962). Malignancy has been reported
thin septa, and lies partially within the carotid sheath. (GRAY and SKANDALAKIS 1972). Ultrasonography,
The fluid contents have a low signal on Tl-weighted CT and MRI will show the imaging features of a
images, but this may be higher if there is blood or normal thymus, and may demonstrate the connec-
protein in the cyst. High signal will occur in fluid- tion with the mediastinal thymus (Fig. 13.15).
filled lesions on T2-weighted scans. MRI or, when
this is not available, CT will show the thymic origin
of tissue by demonstrating mass within the carotid
sheath and connection to the thymus and medi-
astinum (LAu et al. 1984). On CT the thymic cyst
appears as a large, homogeneous mass of water den-
sity (Fig. 13.14). Fine-needle aspiration has not been
useful as an aid to diagnosis (LYONS et al. 1981).
Complete surgical excision of the cyst is the recom-
mended treatment, and the possibility of mediastinal
extension should always be considered even if this
has not been definitely demonstrated prior to sur-

Fig. 13.15. Cervical thymus. Oblique sagittal Tl-weighted

images. MRI shows extension of the thymus from the anterior
mediastinum to the lower neck (arrows). (Reprinted with per-
mission from CASTELLOTE et al. 1999)

13.10
Dermoid/Epidermoid Cyst

Dermoid and epidermoid cysts develop due to ecto-

Fig. 13.14. Thymic cyst. CT scan shows a large left cystic dermal elements being buried beneath the skin
mass with deviation of the airway to the contralateral side. (BROWN and AZIZKHAN 1998). Dermoid cysts contain
(Reprinted with permission from KELLEY et al. 1997) glandular elements, which differentiates them from
188
epidermoid cysts. They both contain sebaceous mate-
rial (McAvoy and ZUCKERBRAUN 1976). Although
dermoid cysts are common lesions in the head and
neck of young children, they usually present in the
head rather than the neck. When they occur in the
neck they usually lie in the mid superior cervical
region, overlying or above the hyoid bone. In this
location they may be confused with a thyroglossal
duct cyst. However ,because they lie subcutaneously
and are mobile, the clinical examination differenti-
ates a dermoid cyst from a thyroglossal duct cyst.
This is of clinical importance as a simple excision of a
dermoid cyst can be done intact and requires no dis-
section to find any extension internally (TELANDER
and FILSTON 1992). An enlarged lymph node overly-
ing the hyoid bone should be included in the diagno-
sis of a thyroglossal duct cyst or dermoid. Investiga-
tion is rarely necessary, but ultrasound can easily
differentiate the solid-looking mass due to fat and
keratin of the dermoid from a cystic structure or
characteristic lymph node (TEELE and SHARE 1991).
Although rare, malignant transformation has been
reported in dermoid cysts (McAvoY and ZUCKER-
BRAUN 1976).
13.11
"Plunging" Ranula
Ranulas are not true congenital lesions, but are
acquired inflammatory retention cysts of the sublin-
gual salivary gland due to duct stenosis or occlusion
(QUICK and LOWELL 1977) which may be congeni-
tal. This sublingual salivary cyst usually presents
beneath the tongue as a glistening mass in the floor
of the mouth. It was given its name by Hippocrates
because of its likeness to the belly of a little frog. The
"plunging" ranula is an uncommon lesion resulting
from rupture of the duct and extravasation of this
fluid containing amylase into the submental region,
where it presents as a pseudocyst without an epithe-
liallining (BROWN and AZIZKHAN 1998). If midline,
it may sometimes be confused with the thyroglos-
sal duct cyst (KHAFIF et al. 1975). Other differen-
tial diagnoses include a midline cervical dermoid
and lymph node (TELANDER and FILSTON 1992).
Ultrasound will demonstrate the cystic nature of
the lesion. MRI demonstrates the thin-walled cystic
collection with an intermediate signal on Tl- and
a high signal on T2-weighted scans consistent with
fluid, the bulk of the lesion being in the subman-
dibular space with a characteristic connection to the
A. W.Duncan
floor of the mouth (Fig. 13.16) (HARDING HAM and
GOLDING 2000). It can be seen on CT, but this has
the disadvantage of involving radiation and does
not give the same spatial relationship or tissue
characterisation.
13.12
Ectopic Thyroid Gland
The thyroid gland appears embryologically as a mid-
line diverticulum of the pharyngeal floor between the
first and second branchial arches (SADLER 1990). The
region of the tongue where the thyroid develops is
the site of the foramen caecum. The thyroid diver-
ticulum becomes bilobed and descends into the neck.
As the thyroid descends it remains connected to
the pharyngeal pouch by the thyroglossal duct. The
thyroid diverticulum descends anterior to the hyoid
bone and larynx and arrests just inferior to the thy-
roid cartilage and upper tracheal rings. Any abnor-
mality in this descent may result in an ectopic loca-
tion of the thyroid gland. This is usually at the base
of the tongue, below the tongue, or in a pre-laryngeal
and substernal position. The ectopic thyroid gland
itself is usually of no consequence. However, if it lies
high in the neck and is mistaken for a thyroglossal
cyst, there may be a problem if it is inadvertently
removed, as this will result in profound hypothyroid-
ism (LEUNG et al. 1995).
The ectopic thyroid gland is extremely rare, with
a prevalence of 1 per 100,000-300,000 persons, and is
reported to occur in 1 per 4,000-8,000 patients with
thyroid disease (YEUNG et al. 1987). Although a con-
genital lesion, it usually presents later in life with a
differential diagnosis of epidermoid cyst, lymphade-
nopathy, lipoma, lymphangioma, sebaceous cyst and,
rarely, midline branchial cyst. Any midline neck mass
merits clinical examination of the thyroid gland in
addition to the mass, to ensure that the normal thyroid
gland is detected. If a normal gland is not detected, or
if ectopic thymus tissue is suspected, ultrasonography
should be performed (NOYEK and FRIEDBERG 1981).
An ectopic thyroid gland presenting as a mass will, on
ultrasound, have the same characteristics as a normal
thyroid gland, and ultrasound will also show its rela-
tionship to other structures. MRI or CT will confirm
this, although this is rarely necessary. If there is still
doubt, radionuclide scanning should show the loca-
tion, size and activity of the functioning thyroid tissue
(Fig. 13.17). There is a full discussion of radionuclide
scanning of the thyroid gland in Chap. 23.
 Congenital Neck Masses (Non-vascular) 189

a
Fig. 13.16a, b. Plunging ranula. a Axial and b coro-
nal T2-weighted images of the left-sided plunging
ranula extending into the sublingual and subman-
dibular spaces. (Reproduced with permission from
HARDING HAM and GOLDING 2000) b

a b
Fig.13.17a, b. Ectopic thyroid gland. Scintigraphy demonstrates a the anterior and b the lateral projection of the lingual thyroid

An ectopic thyroid gland is usually associated
with normal thyroid function in children (GRANT
et al. 1978). However, it may be associated with
hypothyroidism in 33% of patients (NEINAS et al.
1973). The gland secretes thyroxine but in insuffi-
cient amounts (LEUNG 1986). It is therefore impor-
tant to estimate T4, T3 and TSH in all patients with
ectopic thyroid. Hypothyroidism may become man-
ifest in periods of physiological stress and goitre
may develop within the ectopic thyroid gland. If a
child is asymptomatic and euthyroid with ectopic
thyroid gland, no treatment is necessary apart from
continued observation. Where there is deficiency of
the thyroid hormone, elevated TSH levels or phys-
iological impairment due to obstruction, or gland
enlargement producing disfigurement, then thy-
roid supplements are advocated. Some authorities
(KANSAL et al. 1987) suggest that there should be
lifelong thyroxine suppression to prevent enlarge-
ment of the gland.
190
13.13
Sternomastoid "Tumour"
Congenital sternomastoid "tumour" is part of a spec-
trum of abnormality causing congenital torticollis.
Torticollis varies from a palpable sternomastoid mass,
through thickening of the sternomastoid muscle, to
the final group due to postural head tilt or ocular
torticollis. The last group shows no detectable organic
abnormality of the sternomastoid muscle and may be
due to some localised muscular dysfunction resulting
in an imbalance in the action of the muscles, leading
to torticollis (GOLDEN et al. 1999). It may present as
a sign of ocular torticollis due to a squint or, in the
older age group, cerebellar tumour, or cervical rotary
subluxation. Congenital neck anomalies can occur in
association with vertebral anomalies, particularly of
the cervical vertebrae. Torticollis is the most common
muscular presentation of craniovertebral junction
anomalies in older children (MANALIGOD et al.1999).
There is another disorder, benign paroxysmal tor-
ticollis, which is an episodic functional disorder of
unknown aetiology occurring in the first few months
of life, with the child's head tilted to one side for a
few hours or days without any associated signs. The
disorder is self-limiting. It is important to recognise
the difference in order to avoid carrying out numer-
ous investigations (DRIGO et al. 2000).
Congenital muscular torticollis or sternomastoid
tumour, or "fibromatosis colli" as it is also known, is
of debatable aetiology but the high rates of obstetri-
cal complications leads some authorities to the con-
clusion that birth trauma is probably the main aeti-
ological factor (Ho et al. 1999). However, there are
other theories that suggest that the presence of mature
fibrous tissue in the neonate would indicate that the
condition occurs prior to birth and is more likely to
be the cause rather than the effect of obstetrical prob-
lems. There is further support for this view - that the
condition is caused by intrauterine position - since
there is an association of congenital dislocation of
the hip and tibial torsion with torticollis (BROWN and
AZIZKHAN 1998). Fibrosis and shortening of the ster-
nomastoid muscle pulls the head and neck toward the
affected side (ARMSTRONG et al. 1965). Pathologically
there is fibrous tissue between bundles of normal
muscle (MIDDLETON 1930). Clinically there is no pre-
dilection for the side or sex of the patient. The mass is
usually noted between 2 and 8 weeks of age, and the
majority before 6 months (Ho et al. 1999). The child
presents with a characteristic posture with face and
chin tilted away from the affected side and the head
tilted toward the ipsilateral shoulder.
A.W. Duncan
Ultrasonography shows increased echogenicity due
to the fibrous tissue (Fig. 13.18). The normal sterno-
mastoid muscle is hypoechoic with the facial planes
interspersed with the muscle producing thin, linear,
echogenic lines. The presence of a "tumour" is dem-
onstrated by the increased echogenicity and also
increased size. In classical cases there is a fusiform
muscle enlargement, but at times there may be gen-
eralised muscle enlargement only. Although generally
hyperechoic, the "tumour" is occasionally hypoechoic
and sometimes has mixed echogenicity (BEDI et al.
1998). The ultrasonographic appearances correlate
with the pathology and Hsu (Hsu et al.1999) classified
them into four types: (1) fibrotic mass in the involved
muscle; (2) diffuse fibrosis mixed with normal muscle
- the most common, accounting for over three-quar-
ters of cases; (3) diffuse involvement of the muscle
without any normal muscle (uncommon type); (4)
fibrotic cord in the involved muscle, the rarest type.
Types 1 and 4 are more likely to undergo surgical
treatment, type 3 much less so. The lower third of the
muscle is most commonly involved, but with increas-
ing severity the whole of the muscle becomes involved.
In severe cases, without appropriate treatment, facial
and cranial asymmetry will develop within 6 months.
The majority of cases of neonatal torticollis
respond to physiotherapy and postural changes, forc-
ing the infant to look to the contralateral side. Mild
cases need observation only. Development of facial
hemihyperplasia is the main reason for surgical inter-
vention. However, the ultimate decision of whether
surgical intervention is necessary is clinical and
it may necessitate serial ultrasound examinations
(Fig. 13.19) to aid clinical judgement.
Fig. 13.18. Sternomastoid tumour. This shows a typical hyper-
echoic thickened sternomastoid tumour compared with the
normal muscle
 Congenital Neck Masses (Non-vascular) 191

13.14 Brain tissue is the most frequent component, but other

Congenital Teratoma
Teratomas are a rare cause of neck masses; although
10% of childhood teratomas occur above the level of
the clavicles (BERRY et al.1969),only 3% occur in the
cervical region (JORDAN and GAUDERER 1988) and
most of these present in the newborn period. They
may obstruct the airway and be life-threatening, and
may be associated with maternal polyhydramnios
(HAJDU et al. 1966). When found in the neck they
have an intimate relationship to the thyroid gland,
although there is no evidence to suggest that they arise
from the gland. Almost all are congenital in origin.
The cells of a teratoma arise from pluripotential pri-
mordial germ cells and may give rise to many tis-
sues foreign to the organ in which they originate.
tissues such as bronchoepithelium, thyroid elements,
cartilage and ependymal cysts are also found.
Congenital teratomas are invariably benign com-
pared with those presenting later in life (FILSTON
1994). Serum a-fetoprotein and ~-HCG levels are
often elevated.
Congenital lesions give rise to problems during
pregnancy and delivery because of the size of the
tumour. Polyhydramnios occurs in up to 19% of
cases due to impairment of swallowing, which is
more common with the larger lesions (WELCH 1986;
FILSTON 1994). The large size also results in obstructed
labour, premature labour and sometimes stillbirth
(WELCH 1986). Even after delivery mortality may arise
as a result of respiratory compromise, and even with
surgery it occurs in 10% of cases. Without treatment

a b

c d

Fig.13.19a-e. Ultrasonograms of the evolution of the sternomastoid

tumour. a Longitudinal section shows the slightly hypoechoic central
portion of the sternomastoid, which is increased in bulk compared
with the narrow normal lower end of the sternomastoid muscle.
b The transverse section shows the prominent bulk of the sterno-
mastoid tumour. c A week later, the longitudinal section shows the
tumour becoming more hypoechoic in relation to the muscle. d
Transverse sections comparing the two sides of the neck show the
increased bulk on the left compared with the normal muscle on the
right. e Two months later the longitudinal section shows the mass
reducing and becoming more uniform in thickness rather than a
e focal tumour. The echogenicity is returning to more normal muscle
192 A. W.Duncan

the mortality can be between 80% and 100% (WELCH

1986). Congenital teratomas are frequently recog-
nised in utero by ultrasonography, which gives a great
advantage in preparing for delivery and subsequent
immediate postnatal care, particularly in relation to
respiratory compromise by the effect of the mass on
the airways. The teratoma presents as a large, usually
unilateral mass with a differential diagnosis of cystic
hygroma. It may be difficult to distinguish teratomas
from cystic hygromas when they are extremely large
and cystic, but calcification, which is seen in 50%
of teratomas on plain films, will help to distinguish
between the two conditions (WELCH 1986). Ultra-
sound will demonstrate thin-walled cysts and calci-
a
fication, if present, by increased echogenicity with
acoustic shadowing. CT will show calcification and
cystic lesions. If calcification is not present, distinc-
tion from cystic hygroma may be difficult. MRI shows
the extent of the tumour and its spatial relationships
to much better advantage than CT. It also gives better
tissue characterisation and involves no radiation. It
usually shows a multi-loculated cystic structure with
a high signal on T2-weighted scans due to fluid within
the cyst. The presence of fat, giving a high signal on
Tl-weighted images, a low or absent signal on STIR
sequences, and a signal void from calcification will
help to distinguish it from cystic hygroma (GREEN et
al. 1998) (Fig. 13.20). Formed structures resembling
fingers or limbs have been described, and there may b
be intradural extension (FULMER et al.1997). Fig. 13.20a, b. Congenital teratoma. a Axial T2-weighted MRI
Even after surgical removal there may be problems demonstrates the large tumour with cystic components with
related to pulmonary insufficiency and chondroma- several fluid levels. b Oblique sagittal inversion recovery sec-
lacia due to the mass effect in utero (LARSEN et al. tion shows the high signal due to fluid. The dense signal void
1999), and hypothyroidism has been reported follow- probably represents some calcification, with a slightly high
signal around representing haemorrhage
ing excision of a large cervical teratoma. If identifi-
able thyroid tissue is not seen at the conclusion of
surgical removal, a thyroid function test should be blastoma under 1year of age; sometimes they present
performed postoperatively (CHOWDHARY et al.1998). soon after birth, with stridor, dyspnoea and swallow-
Follow-up with determination ofserum a-fetoprotein ing difficulties in addition to the visible mass (TAl
and B-HCG levels is usually used to detect tumour et al. 1997). The tumour has a favourable prognosis
recurrence in those cases that are malignant. compared with neuroblastoma at other sites, prob-
ably in part due to its early visible presentation. When
presenting other than in the newborn period, the
masses are commonly mistaken for infectious ade-
13.15 nitis (ABRAMSON et al. 1993). Serum and urinary
Cervical Neuroblastoma catecholamine concentrations are usually elevated.
The first examination to be carried out is most likely
Neuroblastomas are probably all congenital in origin, ultrasonography, which will show a solid mass with
originating from the neural crest, and therefore will vascular displacement and possibly narrowing of the
occur anywhere there is sympathetic neural tissue. vessels. If there is calcification, this will show as echo-
They are a common malignant tumour in infancy, genic areas with acoustic shadowing (Fig. 13.21a).
although rare in the cervical region. Most neuroblas- Plain chest X-ray will show any calcifications and any
tomas occur below 5 years of age, and cervical neuro- intrathoracic extension, which may also be seen on
Congenital Neck Masses (Non-vascular) 193

ultrasound. Destructive bone changes may be seen,

although since the lesion is usually detected early
these are rare. MRI is the investigation of choice to
show the extent of the lesion and also any intraspi-
nal extension. CT (Fig. 13.21b) will show calcification
to better advantage than MRI. Cervical neuroblas-
toma may present as Horner's syndrome. However,
Horner's syndrome with no evidence of a mass on
clinical examination or ultrasound, and with normal
vanillylmandelic acid levels and no other clinical
signs such as heterochromia, requires no further
investigation (GEORGE et a1. 1998). There is high
uptake of MIBG (metaiodobenzylguanidine) in neu-
roblastoma in most cases (Fig. 13.21c). The well- a
differentiated form of neuroblastoma, ganglioneu-
roblastoma, may also occur but is extremely rare
(AL-JASSIM 1987).

13.16
Laryngocele

Laryngoceles are not truly congenital lesions unless

one considers that the weakness in the laryngeal ven-
tricle is of congenital origin and responsible for dila-
tation. They usually occur as a result of increased
intraglottic pressure. An internal laryngocele is more b
common and presents as stridor. The rarer external
laryngocele presents as a lateral neck mass, often
increasing in size with a Valsalva manoeuvre. Ultra-
sound is of little value in uncomplicated cases
because the air-filled sac produces artefact. Plain
films will show an air-filled lateral structure (Fig.
13.22). Laryngoceles may be imaged by CT or MRI,
which demonstrates a unilocular air- or fluid-filled
cyst (Fig. 13.23). Fluid levels may be seen. External
laryngoceles lie mainly within the submandibular
space and may communicate through the thyrohyoid
membrane to the internal component, although this
may have collapsed and not be visible (HARDING HAM
and GOLDING 2000).

13.17
Lung Herniation
Lung herniation is protrusion of the lung beyond the
confines of the thorax. The herniation may be cervi-
cal, intercostal or diaphragmatic. Most lung hernia-
tions are acquired due to trauma or surgery or sec-
ondary to a neoplastic or inflammatory process, or
c
Fig. 13.21a-c. Congenital neuroblastoma. a Longitudinal ultra-
sound shows a large cervical mass with areas of hyperecho-
genicity probably representing calcification. b Axial CT scan
shows a large tumour on the right with slightly lower attenua-
tion than adjacent muscle, with small areas of increased atten-
uation probably representing calcification. There is displace-
ment of the airway to the left side with some narrowing. c
MIBG 1231 scan, anterior projection, shows high uptake of the
isotope in the neuroblastoma
194 A.W.Duncan

else spontaneous, although 20% are considered to be

congenital (BHALLA et al. 1990; MONCADA et al. 1996).
Congenital cervical herniation is due to agenesis of
Sibson's fascia. Most are asymptomatic or present with
a few infrequent or vague symptoms. Clinically they
appear as a painless, rhythmic bulge of the supracla-
vicular region that increases with respiratory effort
(MONCADA et al. 1996). Congenital cervical lung her-
niation has been described with multiple hernia, lead-
ing to the theory that it may be a defect in the coelomic
mesoderm (ZAGLUL and ODITA 1995). The diagnosis
can be established with a plain radiograph showing
herniation at the apex into the neck. This is accen-
tuated by a Valsalva manoeuvre. In most cases no
treatment is required but just reassurance, although
if the herniation is large, clinically progressive or
causes respiratory distress, surgical intervention may
be necessary (GONZALES-DEL-REY and CUNHA 1990).
Fig. 13.23. Axial CT shows bilateral externallaryngoceles. The
In addition to the symptoms a cosmetic problem may left laryngocele contains only air. On the right there are air-
well also arise, requiring repair of the fascial defect fluid attenuation contents together with a soft tissue attenua-
(BRONSTHER et al. 1968). One should also be aware tion component which would suggest infection or malignancy.
of the possibility of a pneumothorax in this group of (Reproduced with permission from HARDING HAM and GOLD-
ING 2000)
patients (DEVGAN and BRODEUR 1976).

13.18
Thyroid Gland Hemiagenesis

Hemiagenesis of the thyroid gland presents as an

uncommon mass due to hypertrophy of a single thy-
roid lobe or due to thyroid dysfunction. It is more
frequently seen on the left side and may be an inci-
dental finding (DE REMIGIS et al. 1985. Functional
hemiagenesis, identified scintigraphically, can be dif-
ferentiated from anatomical hemiagenesis by ultra-
sonography, which on the transverse section shows
absence of one side of the gland with a normal
appearing contralateral side and isthmus, produc-
ing the so-called hockey stick sign (Vazquez et al.
1995). Scintigraphy identifies functioning tissue. If
the gland is non-functioning, it will be seen on ultra-
sound. If it is true hemiagenesis, it will not be seen
on either modality.

Fig. 13.22. Laryngocele. The appearance is of an air-filled
cavity on the lateral projection, which would be compatible
with a laryngocele or oesophageal diverticulum. Oral contrast,
however, does not fill it and suggests that this is not related to
the oesophagus. In fact, it actually represented duplication of
the larynx, which has a similar appearance
13.19
Midline Cervical Cleft
This unusual anomaly appears as a long, linear skin
defect but can occasionally be associated with scar-
ring contracture, which can produce a small mass
effect.
Congenital Neck Masses (Non-vascular)
13.20
Bronchogenic Cyst
These are rare congenital lesions that usually arise
near the hilar region, presenting due to infection
or compression of vital structures. They have been
described as an unusual cause of a lump in the neck
(RAPADO et al. 1998).
13.21
Lingual Thyroid Gland
Thyroid rests may occur anywhere along the thy-
roglossal duct. The majority lie near the foramen
caecum of the tongue. Occasionally a goitre may result
in airway obstruction. Ectopic tissue in 77% of cases
is the only functioning thyroid tissue (VAZQUEZ et al.
1995). In congenital hypothyroidism ultrasonography
is usually performed when a normally located gland
is not felt (MILLER 1985). Thyroid scintigraphy will
confirm this (Fig. 13.17). However, if the tissue is non-
functioning it will yield false negative results.
13.22
Congenital Vascular Lesions
These may present as masses. The reader is referred
to Chap. 20 for a full discussion of vascular lesions.
13.22.1 Haemangioma
Haemangiomas are the most common congenital
lesions of the head and neck in childhood, occur-
ring in about 2.5% of all newborn infants ( MacCol-
lum and Martin 1956). They are uncommon in the
neck apart from the back of the neck. They occur
predominantly in the skin and mucosa but can be
invasive. Cutaneous haemangiomas present primar-
ily in infants and young children. The capillary type
usually involutes spontaneously while the cavernous
type regresses only when it has been present from
birth (Edwards 1993). The capillary types tend to
the appearance of a flattened strawberry and have
no mass effect. Cavernous types have large vascular
spaces and are compressible, being raised above the
skin with a warty granular surface (Potter 1976).
Mixed capillary and cavernous types produce the
raised vascular strawberry naevi. Haemangiomas
with cavernous components may grow massively.
195
Although present at birth, most do not become
noticeable until after the first month of life. Most will
involute spontaneously, but a small proportion may
become quite large and present a difficult manage-
ment problem due to airway obstruction, involve-
ment of vital organs, cardiac failure or coagulation
problems due to platelet trapping.
The first investigation of a mass suspected to be
a haemangioma is ultrasonography, which will show
hypoechoic areas with echogenic septations. The cap-
illary areas, due to echoes from the walls of the ves-
sels, may show as an echogenic region. The echo-
genicity can also be due to thrombosis. For the more
extensive lesions, MRI or, if that is not possible,
CT demonstrates the extent of the lesion. Contrast-
enhanced CT will show the vascular nature of the
lesion.
Most haemangiomas require no more than obser-
vation unless they become a clinical management
problem, when more aggressive therapy may be
needed. A full account of the imaging and manage-
ment is given in Chap. 20.
13.22.2
Varix of the Jugular Vein
Localised swelling in the neck during strammg,
coughing or crying may be due to fusiform dilata-
tion of the jugular vein. This is readily shown by
ultrasound demonstration of its expansion on the
Valsalva manoeuvre, and also by the presence of flow
on Doppler imaging (KOVANLIKAYA et al. 1990).
13.22.3
Carotid Artery Aneurysm
Carotid artery aneurysms are extremely rare in chil-
dren, trauma and infection being the usual causes
when they do occur. Congenital carotid artery aneu-
rysms due to a defect in the arterial wall are
even rarer and may be a manifestation of a gener-
alised connective tissue disorder, such as Ehlers-Dan-
los, Marfan's, Kawasaki's or Maffucci's syndromes
(VAZQUEZ et al. 1995). They can readily be evaluated
by ultrasound.
13.22.4
Cervical Aortic Arch
The high position of the aortic arch may manifest
itself due to compression of the airways or oesopha-
196
gus producing respiratory difficulties or dysphagia.
It is usually a right-sided aortic arch and may be
associated with other cardiac or vascular anomalies
(DOORENBOS et al. 1991). It may be asymptomatic.
Very occasionally this congenital extension of the
aortic arch into the neck may produce a pulsatile
neck swelling (MURRAY and NEGRETTE 1989). As
a mass in the neck it can be identified by ultra-
sound and its nature determined with flow identified
by Doppler ultrasonography. Plain films may show
indentation of the trachea. Tl-weighted MRI will
show the high position of the arch passing through
the thoracic inlet (CASTELLOTE et al. 1999).
13.23
Rare Congenital Tumours, Cysts
and Infections
Very rare congenital tumours such as rhabdoid tumour
(COSTES et al. 1997), neurofibroma (KOKANDKAR et al.
1994), fibrosarcoma (Fig. 13.24) (BooN et al. 1995) and
foregut cysts (COHEN et al. 1985) may present as neck
masses. Congenital infections such as tuberculosis can
present with neck masses but rarely do (THORA et al.
1985). Parathyroid cysts are rare and of questionable
embryonic origin. They usually present in the adult as
a painless neck mass that is occasionally symptomatic
(GRAY and SKANDALAKIS 1972).
Fig. 13.24. Fibrosarcoma. Axial CT scan of the neck with
intravenous contrast shows a large mass in the right side of
the neck displacing the airway anteriorly and laterally. It has
patchy enhancement, particularly of the rim
A.W. Duncan
13.24
Summary
Congenital neck lesions are a common finding in the
paediatric age group and must be differentiated from
lesions from other causes. Clinical examination will
indicate the nature of most lesions. Ultrasonogra-
phy is the first line of investigation; it can differenti-
ate between cystic and solid lesions, and in many
instances will reveal the nature and extent of the
lesion. When the lesion has a solid component it is
always important to identify a normal thyroid gland
to ensure that the only functioning thyroid tissue is
not removed at surgery. Larger lesions are evaluated
by MRI, particularly Tl-weighted sequences, for the
spatial relationships, or, if MRI is not available, CT.
Occasionally isotope studies are needed to identify
functioning thyroid tissue, and a contrast swallow
may in rare instances aid diagnosis.
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14 Obstructive Sleep Apnoea
R. W. CLARKE

CONTENTS airway symptoms is now well known, but it is of

more importance in adult medicine than in chil-
14.1 Historical Introduction 199 dren. Although the relationship between adenoton-
14.2 Mechanisms and Morbidity 200
14.2.1 Definition and Prevalence 200
sillar hypertrophy and a variety of manifestations
14.2.2 Aetiology 200 of airway obstruction in children was recognised in
14.2.3 Pathophysiology 201 the nineteenth century (HILL 1889), it was not until
14.2.4 Presentation 201 the second half of the twentieth that GUILLEMINAULT
14.2.5 Morbidity and Complications 202 published the first scientific reports which described
14.3 Investigations 202
14.3.1 Sleep Studies 202
in detail the syndrome we now refer to as obstructive
14.3.2 Plain Film and Chest X-Ray 203 sleep apnoea (OSA) in children (GUILLEMINAULT et
14.3.3 Fluoroscopy 203 al. 1976, 1981).
14.3.4 Cephalometry 203
14.3.5 Computed Tomography 203
14.3.6 Magnetic Resonance Imaging 204
14.4 Treatment 204
14.4.1 Medical Treatment 204
14.4.2 Surgical Treatment 204
References 205

14.1
Historical Introduction

It is not surprising that children suffering from ade-

noidal obstruction should be mentally dull and apa-
thetic, and incapable of sustained attention even
when at play. This condition is traditionally termed
'aprosexia'. Fortunately, it is susceptible of marked
improvement following operation.
(WILSON 1955)

"Joe the fat boy" from The posthumous papers of

the Pickwick Club (DICKENS 1837) is the most cele-
brated child with obstructive sleep apnoea in litera-
ture. DICKENS, a master of astute observation, depicts
Joe as "a fat and red-faced boy in state of somno-
lency" (Fig. 14.1). Joe was probably red-faced due
to polycythaemia secondary to chronic hypoxia. The
association between obesity and obstructive upper
Mary and Ihl Fal Boy
R.W. CLARKE BSc, DCH, FRCS, FRCS(ORL) C/>. 760)
Consultant Paediatric Otolaryngologist, Royal Liverpool Chil-
dren's Hospital, Liverpool, UK Fig. 14.1. Joe "the fat boy" from the Pickwick Papers
200 R. W. Clarke

14.2 sequence with mandibular hypoplasia is often associ-

Mechanisms and Morbidity ated with OSAS not only because of the relatively
small size of the pharyngeal airway, but also due to
14.2.1 the tendency of the tongue to prolapse backwards
Definition and Prevalence into the airway - "glossoptosis" (BATH and BULL.
1996). Children with Down's syndrome are particu-
Obstructive sleep apnoea syndrome (OSAS) is char- larly liable to develop OSAS. They will often have
acterised by episodic partial or complete collapse of macroglossia (Fig. 14.2), they may have an element
the upper airway during sleep. This causes apnoea of midfacial hypoplasia and they may have pharyn-
(cessation of airflow, often with hypoxaemia and/or geal muscle hypotonia. Obesity in OSAS is far less
hypercapnia) or hypopnoea (partial airflow reduc- common in childhood than in adults. Any cause of
tion), giving rise to alveolar hypoventilation. This upper airway obstruction in children may manifest
alveolar hypoventilation occurs despite adequate as OSAS (Table 14.1), but most cases in otherwise
respiratory muscle effort. It is this continuing respira- healthy children are caused by enlargement of the
tory effort which distinguishes OSAS from central pharyngeal lymphoid tissue, i.e. tonsils and ade-
apnoea, where there is malfunction of the respira- noids.
tory centre. Mixed forms occur, particularly in chil-
dren with neurological impairment. The prevalence
of OSAS is estimated at 3% in the paediatric popula-
tion, with a peak in the age group between 2 and 5
years (ALI et a1.1991; GISLASON and BENEDIKTSDOT-
TIR 1995). OSAS is well described in adults, in whom
precise diagnostic criteria are widely accepted, but
the definition is more difficult in children because
of a wide variation in age-related normative data
for respiratory events during sleep (GOLDSTEIN et al.
1994).

14.2.2
Aetiology
Tonsil...., .....
There may be an anatomical obstruction, e.g large
tonsils and adenoids, or a disproportion between the
size of the pharyngeal lymphoid tissue and the oro-
pharynx in which this lymphoid tissue sits (BRODSKY
et al. 1987). Other anatomical factors include nasal
obstruction due to nasal septal deflection or allergic
rhinitis. There may be hypoplasia of the midface, as in
some of the craniofacial syndromes. The Pierre Robin Fig. 14.2. Macroglossia in Down's syndrome

Table 14.1. Causes of OSAS in children

Oropharyngeal Nasal/nasopharyngeal Systemic diseases Craniofacial syndrome

Enlarged tonsils Allergic rhinitis Cerebral palsy Down's syndrome

Retrognathia Enlarged adenoids Reticuloses
Macroglossia Nasal septal deviation Sickle cell disease
Prader-Willi syndrome
Glycogen storage disease
Achondroplasia
Apert's syndrome
Treacher Collins syndrome
Crouzon's syndrome
Obstructive Sleep Apnoea
14.2.3
Pathophysiology
The airway above the larynx is distensible. Patency is
maintained in part by pharyngeal muscle tone. The
part of the airway most susceptible to closure is the
upper oropharynx at the level of the velopharynx
(Fig. 14.3). Obstruction may, however, be at any level,
and multisegment pathology is common. Partial col-
lapse causes snoring with or without some hypop-
noea and/or hypoxaemia, whereas complete collapse
Nasal airway {
larynx {
Trachea {
Bronchial airway {
Fig. 14.3. The distensible pharyngeal airway
gives rise to apnoea (Fig. 14.4). It is now recognised
that there is a spectrum of disorders between benign
snoring and severe OSAS. Partial airway collapse or
apnoea not of such severity to merit the term OSAS
but sufficient to cause systemic effects is variously
referred to as the upper airway resistance syndrome
(UARS) (GUILLEMINAULT et al. 1996), sleep-related
upper airway obstruction (srUAO) (ROSEN et al.
1992) or sleep-asssociated gas exchange abnormal-
ity (SAGEA) (GOZAL 1998). Obstruction may be
mechanical, as in large tonsils or adenoids, func-
tional, as in the hypotonia associated with many neu-
rological conditions in childhood, or both.
14.2.4
Presentation
Children with OSAS may present to a variety of
physicians including family doctors, paediatricians,
201
-l" Normal
~
~ ~ ~ Airflow
t t
Partial obstruction
-l" ~
t t
Complete obstruction
Airflow patterns in snoring and osa
Fig. 14.4. Mechanism of pharyngeal closure and collapse
neurologists, pulmonologists, otolaryngologists and
child psychiatrists. The great majority of these chil-
dren will snore loudly, although snoring in the
abscence of any other sleep-related symptomatology
is of doubtful clinical significance. Carers will often
report that the child's sleep is restless and character-
ised by flailing and thrashing. There may be sudden
wakening with snoring or gasping, but the charac-
teristic arousal response so typical of adult OSAS is
not often seen. Respiratory effort against resistance
may cause paradoxical rib cage movement associated
with grunting noises which many carers find very dis-
tressing. Day-time symptoms include mouth breath-
ing, irritability, behaviour disturbance and cogni-
tive dysfunction. In contrast with adults, day-time
somnolence is not common - more often there is a
paradoxical hyperactivity. These effects are probably
brought about by a combination of sleep disturbance
and hypoxaemia. In long-standing cases there is a
metabolic alkalosis which may cause failure to thrive
(BROUILLETTE et al. 1982). The ruddy complexion of
secondary hypoxaemia is now rarely seen. The child
may be mouth breathing and often there is marked
adenotonsillar enlargement (Fig. 14.5). The classic
"adenoidal facies" of longstanding untreated OSAS is
still seen (Fig. 14.6). There is increasing recognition
of the profound adverse effect of childhood sleep-
related breathing disorders on both child and family
(FRANCO et al. 2000.)
202 R. W. Clarke

sive care unit - for respiratory support. In less florid

cases there may be associated cognitive dysfunction
manifested as hyperactivity, behaviour problems,
poor school performance and day-time fatigue
(GOZAL 1998). These deficits are amenable to inter-
vention and are often markedly improved by ade-
notonsillectomy. Much may be reversed by prompt
referral and treatment.

14.3
Investigations

14.3.1
Sleep Studies

Fig. 14.5. Enlarged tonsils The majority of children with mild to moderate
obstructive sleep apnoea can be satisfactorily man-
aged with minimal investigations. Such investiga-
tions as are required are firstly to confirm the diag-
nosis and secondly to determine the level or levels of
obstruction so that intervention can be planned so
as to maximise the prospects of success. History and
examination are said to be unreliable in the diagnosis
of OSAS (CARROLL et al. 1995) and the definitive
investigation is a formal "sleep study" or polysom-
nogram (PSG) (GOLDSTEIN et al.1994). These studies
involve measurement under laboratory conditions of
respiratory effort, oronasal airflow, arterial oxygen
saturation and various cardiovascular parameters,
and include electromyograms to measure arousal and
sleep stage. Data are then studied and the diagnosis
of OSAS may be made according to strict criteria, e.g.
those established by the American Thoracic Society

Fig. 14.6. "Adenoidal" facies

14.2.5
Morbidity and Complications

Severe untreated OSAS may be associated with hyper-

tension, cor pulmonale, pectus excavatum (Fig. 14.7),
failure to thrive, and developmental delay (BOWER
and GUNGOR 2000). There may be recurrent respira-
tory infections, chronic aspiration, feeding problems Fig. 14.7. Pectus excavatum - a feature of prolonged untreated
and repeated admissions to hospital- often the inten- OSAS
Obstructive Sleep Apnoea 203

(ANONYMOUS et al. 1996). As few centres have a fully

equipped paediatric sleep laboratory with PSG facili-
ties, a variety of alternatives have been developed.
These include home video monitoring of the child
during sleep, a technique which can give very useful
information about the pattern and severity of airway
obstruction (MORIELLI et al. 1996). Overnight pulse
oximetry (OWEN et al. 1995), "nap studies" (MARCUS
et al. 1992),"minisleep" studies or overnight observa-
tion in an in-patient unit may all be useful, but reli-
ability is clearly less than with a formal PSG, and
health care providers both in the United States and
some European countries are increasingly insisting
on PSG before authorising surgery for OSAS. In long-
standing cases a chest X-ray should be requested to
look for features of pulmonary hypertension. An elec-
trocardigram may show features of early pulmonary
hypertension.

14.3.2
Plain Film and Chest X-Ray

A plain lateral view of the neck can be helpful to
demonstrate the pharyngeal airway and in particular
to show the adenoidal pad. The film is best taken
with the child's mouth closed and with the neck in
the neutral position, i.e. neither flexed nor extended
(Fig. 14.8). Although the calibre of the airway can only
be inferred in one dimension, this is a useful inves-
tigation in equivocal cases where adenoidectomy is
contemplated.
14.3.3
Fluoroscopy
Fluoroscopy can provide a dynamic image of the
upper airway both in wakefulness and sleep. The
technique was described in the investigation of
airway obstruction over 20 years ago but it is not
widely used. GIBSON et al. (1996) have recently
reported on a prospective study of 50 children with
complex sleep-related breathing disorders. Sleep
fluoroscopy, with sedation, was found to be a valu-
able adjunct to endoscopy particularly where there
was hypopharyngeal collapse or multiple levels of
obstruction. The imaging altered treatment plans in
over half the study group but has the disadvantage
that it requires sedation in a child with a compro-
mised airway.
Fig. 14.8. The adenoidal pad
14.3.4
Cephalometry
There is a considerable body of literature on the
radiological measurement of craniofacial skeletal
landmarks in adults (LYBERG et al. 1989). A variety
of measurements are taken and analysis may help to
predict the likely outcome of surgery to improve the
airway. Cephalometry is not widely used in children
due to the wide variation in age-related normative
values in the growing craniofacial skeleton. The tech-
nique also requires the subject's head to be firmly
fixed, and a good deal of co-operation is needed.
14.3.5
Computed Tomography
Many young children are unable to co-operate with the
breath-holding techniques needed for a CT scan. OSAS
is essentially a dynamic condition and this greatly
limits the usefulness of CT. One potential solution is
ultrafast or electron beam CT (EBCT). EBCT uses tech-
204 R. W. Clarke

niques that are not dependent on CT gantry rotation

and images can be acquired very quickly (0.1 s per
slice) but with lower spatial resolution. Facilities for
this technique are not widely available and it is primar-
ily of research interest (WIET et al. 2000).

14.3.6
Magnetic Resonance Imaging

The ideal imaging technique for OSAS would be non-

invasive, inexpensive, and permit supine imaging,
ideally during natural sleep with mimimal or no
exposure to ionising radiation. It would give high-res-
olution images of the airway and surrounding struc-
tures in all planes with the potential for dynamic
reconstruction. It would be reproducible and easy
to undertake. No current modality satisfies all the
conditions, but magnetic resonance imaging (MRI)
is likely to come closest. Not widely used in clinical
practice, particularly in children, sedation MRI can
demonstrate retroglossal and multisegment pharyn-
geal collapse and inform decision-making prior to
airway surgery, (Fig. 14.9). Achieving natural sleep in
the MR scanner is difficult, but it has been accom-
plished in adults (SCHWAB and GOLDBERG 1998). A
Fig. 14.9. "Stills" from a cine MRI. Tongue base collapse with
potential limitation of sedation-induced sleep is that obliteration of the pharyngeal airway
the physiological conditions that obtain in natural
sleep may not be reproduced.
(bilevel positive airway pressure), where the inspira-
tory and expiratory pressures are set independently.
Some children can be managed with supplemental
14.4 oxygen alone (MARCUS et al.I995). Interdental man-
Treatment dibular advancement devices are commonly used in
adults, but again tolerance is a problem in the paedi-
Treatment of OSAS depends on the severity and the atric population. For infants with mandibular hypo-
level of obstruction and the general condition of the plasia and glossoptosis a carefully positioned naso-
child. Management strategies in general are of three pharyngeal airway tube may suffice until mandibular
types: medical, physical and surgical. growth occurs.

14.4.1 14.4.2
Medical Treatment Surgical Treatment

Medical treatment may include intranasal steroids
for allergic rhinitis or a course of antibiotics for ade-
notonsillar hypertrophy. Physical treatments include
continuous positive airway pressure (CPAP), which
maintains airway patency by acting as a pneumatic
splint. This may be delivered via a face mask or by
nasal prongs. Although efficacious in many situa-
tions, tolerance is often poor in childhood (WATERS
et al. 1995). An alternative may be the use of BiPAP
The commonest surgical intervention by far is ade-
notonsillectomy. Few paediatric otolaryngologists
would recommend intervention for simple snoring
with no asssociated day-time or sleep related symp-
toms, but for more severe presentations the response
to adenotonsillectomy is usually dramatic. Nasal
septal surgery may be indicated and more heroic
measures may be considered on an individual basis.
These include uvulo-palato-pharyngoplasty (UVPP),
Obstructive Sleep Apnoea
in which not only the tonsils but a cuff of tissue
from the free margin of the soft palate to include
the uvula is removed (FAIRBANKS and FUJITA 1994).
This is widely undertaken in adults but less readily
in children due to the risk of velopharyngeal insuf-
ficiency causing speech and swallowing difficulties.
Resection of the tongue base, reduction of the tongue
base by a variety of methods including laser (WOOD-
SON and FUJITA 1992), and a variety of procedures to
hoist the tongue base forward have been described
(COLEMAN and BICK 1999). Children with cranio-
facial anomalies often show dramatic improvement
with mandibular or maxillary surgery (COLEMAN
1999). Severe recalcitrant cases may need tracheot-
omy, but clearly this is a major undertaking with
significant implications for the quality of life of both
the child and family (COHEN et a1. 1997).
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Woodson BT, Fujita S (1992) Clinical experience with lingual-
plasty as part of the treatment of severe obstructive sleep
apnea. Otolaryngol Head Neck Surg 107:40-48
15 Stridor
R. W. CLARKE

CONTENTS the noise is typically low-pitched and "stertorous".

This is characteristic of obstructive sleep apnoea
15.1 Introduction 207 (OSA) and is dealt with in Chap. 14. Turbulent flow
15.2 Investigation 207
15.3 Plain Radiograph of the Neck 208
through the lower airways causes the "wheeze" of
15.4 Chest X-Ray 210 bronchial asthma. Obstruction in the larynx or the
15.5 Barium Swallow 210 upper trachea typically causes a high-pitched musi-
15.6 Endoscopic Findings in Stridor 210 cal noise which we refer to as "stridor" (COTTON and
15.7 Airway Fluoroscopy 211 REILLY 1998). The common laryngeal and upper tra-
15.8 MRI 211
15.9 CT 212
cheal pathologies which give rise to stridor in chil-
References 212 dren are listed in Table 15.1 and described here. Intra-
thoracic conditions are considered in Chap. 16.

Table 15.1. Common causes of stridor

Supraglottic Glottic Subglottic
15.1
Introduction Laryngomalacia Laryngeal web Laryngo-tracheo-
bronchitis
Turbulent airflow due to partial obstruction of the Epiglottitis Recurrent respiratory Subglottic stenosis
respiratory tract may cause noisy breathing. This is papillomata
caused by pathology at a variety of levels in the airway Extrinsic Vocal cord palsy Tracheomalacia
(Fig. 15.1). If obstruction is at the level of the pharynx compression
Laryngeal cyst Haemangioma
Abnormal vessels
Complete tracheal
Nasal airway {
ring

15.2
Investigation

In every stridulous child a diagnosis should be made

Trachea {
Bronchial airway {
Fig. 15.1. The divisions of the airway
R.W. CLARKE BSc, DCH, FRCS, FRCS(ORL)
Consultant Paediatric Otolaryngologist, Royal Liverpool Chil-
dren's Hospital, Liverpool, UK
based on a careful history, examination and inves-
tigations. The definitive diagnosis usually requires
direct inspection of the airway using flexible or
rigid endoscopes but the diagnostic work-up and
follow-up may be greatly facilitated by appropriate
imaging (Fig. 15.2).
A careful history includes details of the preg-
nancy and birth. Endotracheal intubation in the new-
born may predispose to subglottic stenosis, while the
symptoms of congenital vocal cord palsy will be evi-
dent at birth. Laryngomalacia typically presents in
208 R. W. Clarke

Stridor 15.3
/
Feed.ing Difficulties
Plain Radiograph of the Neck

/ No
~
~s
Plain films of the neck (anteroposterior and lateral
views) will demonstrate the calibre of the airway and
I
Plain film
I
Barium swallow
delineate some important landmarks. Many authori-
chest X-ray chest X-ray ties still recommend a high-kilovoltage "Cincinnati"
~ / view (JOSEPH et al. 1976; COTTON and REILLY 1998),

----
Suspected complete tracheal ring but we have been able to get very satisfactory images
using computed radiography (Fig. 15.3).
~s / 0 Acute epiglottitis is now rare in countries which
I /~ have instituted a Haemophilus influenzae type B vac-
CT scan/MRI Foreign body 0 foreign cination campaign (LIPTAK et al.1997; MIDWINTER et
I I b~y al.1999). Nevertheless, it is important to recognise the
Endoscopy Endoscopy I characteristic presentation with acute noisy breath-
(prepare for Infection ing in a rapidly deteriorating pyrexial child and the

/"'"
thoracotomy
radiological sign of "thumbprinting" of the epiglot-
Yes No tis if plain radiography is performed (Fig. 15.4). Now

/t
Trea
CT/M~1
extrinsic
for
more often due to non-Haemophilus organisms, the
condition still carries a high morbidity and may be
fatal without rapid respiratory support (HUGOSSON
compression
or endoscopy et al. 1994).
Acute laryngo-tracheo-bronchitis (ALTB or
I "croup") is much more common. This is a viral con-
Extrinsic mass

Yes
/\ No
dition caused in the main by para-influenza viruses
and the respiratory syncytial virus (RSV). The peak
incidence is around the age of 2 years and presenta-
/ I tion is typically in the winter months. The diagnosis
Consider Endoscopy is clinical but is greatly aided by radiography show-
CT/MRI
Fig. 15.2. Algorithm-diagram for imaging strategies in the
stridulous child

the first few weeks after birth. Feeding difficulties

must be enquired about as severe aspiration may sug-
gest an associated tracheo-oesophageal fistula or a
laryngeal cleft. Many paediatric airway pathologies
are now known to be associated with gastro-oesoph-
ageal reflux (VANDENPLAS et al. 1996).
The history of onset of breathing difficulty may be
important. Rapid onset of stridor in a previously well
child suggests an inhaled foreign body or infection,
e.g. laryngo-tracheo-bronchitis or acute epiglottitis
(BULL 1998). Imaging is clearly inappropriate if the
child is in extremis, when immediate measures must
be taken to restore the airway, but in most cases a
more measured approach permits a plain film of the
neck and a chest X-ray.

Fig. 15.3. Computed radiograph of the normal pediatric

airway
Stridor 209

Fig. 15.4. Acute epiglottitis Fig. 15.5. "Croup" or acute laryngo-tracheo-bronchitis

ing the characteristic "steeple" or "pencil tip" sign

brought about by narrowing of the subglottic airway
(Fig. 15.5).
A plain film may demonstrate an airway foreign
body. An impacted oesophageal foreign body may
be an unsuspected cause of stridor due to tracheal
compression (Chap. 22).
Subglottic pathologies such as subglottic
stenosis and haemangiomata may be demonstrated
on plain radiography, but direct endoscopic inspec-
tion will be required for these conditions.
The plain film may demonstrate extrinsic
laryngotracheal compression confirmed on CT
(Fig. 15.6).
A rare but important condition which may be
suspected on plain film and confirmed by CT scan- Fig. 15.6. Extrinsic laryngotracheal compression by neurofi-
ning is the complete tracheal ring (Fig. 15.7). This broma

Fig. 15.7. Complete tracheal ring

210
is a variant of congenital tracheal stenosis, and
endoscopy is potentially hazardous. If the suglottic
mucosa becomes oedematous due to instrumenta-
tion of the airway, there may be complete obstruc-
tion, necessitating urgent reconstructive surgery
(DUNHAM et al. 1994).
15.4
Chest X-ray
A chest X-ray should be part of the work-up for
every stridulous child. It is especially important if the
presence of a foreign body is suspected. Often the
only abnormality is hyperinflation of one lung due
to obstructive emphysema (Chap. 17).
15.5
Barium Swallow
Not all stridulous children will require a contrast
swallow, but this is a particularly useful study in
laryngeal cleft, where aspiration of contrast material
via the posterior laryngeal wall defect will be seen
(Fig. 15.8). An associated tracheo-oesophageal fistula
Fig. 15.8. Contrast study. Aspiration due to laryngeal cleft
R. W. Clarke
may also be demonstrated. Although contrast swal-
low is no longer accepted as the definitive investiga-
tion for gastro-oesophageal reflux, it may be useful
in demonstrating such reflux. Pharyngo-oesopha-
geal indentations due to vascular compression will
require further evaluation, often with magnetic res-
onance imaging (MRI). Angiography is now rarely
needed for these lesions. (RENCKEN et al. 1998)
15.6
Endoscopic Findings in Stridor
Laryngomalacia is the commonest congenitallaryn-
geal anomaly and the most frequent cause of stridor
in infancy (FRIEDMAN et al. 1990). Presentation is
usually within the first 6 weeks oflife, and stridor may
progress in severity before undergoing spontaneous
resolution within the first year or so. Typically there
is flaccidity of the supralaryngeal skeleton and the
condition can only be diagnosed by direct inspection
of the larynx during a complete respiratory cycle. The
characteristic indrawing of the aryepiglottic folds is
seen either with a flexible endoscope in the awake
infant or using a Hopkin's rod telescope in an anaes-
thetised child breathing spontaneously. The quality of
modern endoscopes and photo-documentation sys-
tems is such that radiological imaging is rarely help-
ful, although there is some evidence that a second
lesion is not uncommonly found with airway fluo-
roscopy (MANCUSO et al. 1996).
Vocal cord palsy is also a dynamic diagnosis and
requires endoscopy in a spontaneously breathing
child so that the excursions of the cords can be seen.
A cord palsy in a child is rarely an isolated anomaly
and may be due to central or peripheral pathology
(ROSIN et al. 1990). Diagnostic work-up, including
imaging, is essential and investigations may include
MRI and/or CT of the neck and thorax. An unsus-
pected Arnold-Chiari malformation can present in
this way (DE JONG et al. 2000).
Recurrent respiratory papillomatosis (RRP) is a
viral condition typically presenting with hoarseness
or an abnormal cry. It is now known that the caus-
ative organism is human papilloma virus (HPV, types
6 and 11) transmitted via the birth canal from mater-
nal condylomata. Diagnosis is by direct inspection
(Fig. 15.9) with histological confirmation. Treatment
may involve multiple laryngotracheoscopies with
carbon dioxide laser ablation. A potential long-term
complication is the development of a squamous car-
cinoma of the bronchus (GREEN et al. 2000).
Stridor 211

plan and monitor treatment. Tracheomalacia is con-

sidered in Chap. 16.

15.7
Airway Fluoroscopy

Airway fluoroscopy is not widely used in the assess-

ment of airway obstruction in children, but advocates
suggest that it may be a useful adjunct to endoscopy
(MANCUSO et al. 1996). Little co-operation is needed
and the technique has been used to exclude a second
Fig. 15.9. Recurrent respiratory papillomatosis
lesion in laryngomalacia (MANCUSO et al. 1996). It is
probably more useful in the pharynx, where tissues
are highly distensible (GIBSON et al. 1996).

Laryngeal webbing may be congenital or acquired.

The congenital form is really a partial agenesis of the
laryngeal lumen and, while it is possible to demon- 15.8
strate the fixed web on airway fluoroscopy (WIET et Magnetic Resonance Imaging
al. 2000), the diagnosis is endoscopic.
Subglottic stenosis may be congenital or acquired. MRI may be indicated following endoscopy. This
The acquired form was traditionally associated with is particularly the case if there is evidence of extrin-
a history of intubation in the neonatal period and sic tracheobronchial compression due to a vascular
is much less common as intubation techniques and lesion, where angiography is now rarely needed
materials have improved. Although the diagnosis and (RENCKEN et al. 1998). These conditions are dis-
grading is undertaken at endoscopy, good-quality cussed in Chap. 16.
radiographs can contribute valuable information by
showing the airway column and helping to estimate
the length of stenosis. Laryngeal CT may be used
to assess the degree of loss of cartilaginous support
for the cricoid, and MRI may be indicated if there is
evidence of a coincidental vascular lesion (COTTON
2000).
Haemangiomata may involve any part of the
airway but typically involve the subglottis (BAILEY et
al. 1998). Presentation is with stridor at about 1 or 2
months of age as the natural history of these lesions
is that they undergo a proliferative and then an invo-
lutional phase. There may be a cutaneous haemangi-
oma as well (Fig. 15.10). Again the diagnosis is made
endoscopically, but CT or MRI may be useful to mon-
itor progress and to determine if there is extrala-
ryngeal extension. The MR appearance varies with
the phase of the lesion, the proliferative phase being
characterised by a uniformly enhancing soft tissue
mass with dilated vessels, whereas the involutory
phase shows variable enhancement. (BAKER et al.
1993; ROBERTSON et al. 1999).
Tracheomalacia or collapse of the tracheal airway
can be demonstrated endoscopically, but dynamic Fig. 15.10. Child with cutaneous and subglottic
imaging, notably electron beam CT, may be useful to haemangioma
212
15.9
Computed Tomography
CT is limited by the inability of many young chil-
dren to co-operate with the necessary breath-holding
manoeuvres . Nevertheless, it may be useful in the
assessment particularly of extraluminal lesions, e.g.
cystic hygromata in the neck (Fig. 15.11), and tho-
racic lesions (Chap. 16). LONG et al. (1999) have
recently reported on the technique of controlled ven-
tilation CT. This involves scanning the airway at full
lung inflation during an apnoeic period. The method
is especially suitable for tracheobronchial pathology
and is sometimes referred to as "virtual bronchos-
copy" (KONEN et al. 1998) The three-dimensional
digital data collected in modern imaging techniques
allow "virtual endoscopy" in the respiratory system.
"Virtual endoscopy" may replace many of the more
invasive diagnostic methods in the near future
(PaTcHEN 2000).
Fig. 15.11. Extensive lymphatic malformation in the left side
of the neck
References
Baker LL, Dillon WP, Hieshima GB, et al (1993) Hemangio-
mas and vascular malformations of the head and neck: MR
characterization. AJNR Am J NeuroradioI14:307-314
Bailey CM, Froehlich P, Hoexe HL (1998) Subglottic hae-
mangioma: controversy in management. J Laryngol Otol
112:765-768
Bull PD (1998) Evaluation of the paediatric airway by rigid
endoscopy. In: Cotton RT, Myer CM (eds) Practical paediatric
otolaryngology. Lippincott-Raven, Philadelphia, pp 477-491
R. W. Clarke
Cotton RT (2000) Management of subglottic stenosis. Otolar-
yngol Clin North Am 33:111-130
Cotton RT, Reilly JS (1998) Stridor and airway obstruction. In:
Bluestone C, Stool S, Kenna M (eds) Paediatric otolaryngol-
ogy, vol 2, 3rd edn. Saunders, Philadelphia, pp 1275-1288
De Jong AL, Kuppersmith RB, Sulek M, et al (2000) Vocal cord
paralysis in infants and children. Otolaryngol Clin North
Am 33:131-150
Dunham ME, Hollinger LD, Backer CL, et al (1994) Man-
agement of severe congenital tracheal stenosis. Ann Otol
Rhinol LaryngoII03:351-356
Friedman EM, Vastola AP, McGill IT (1990) Chronic pediatric
stridor: etiology and outcome. Laryngoscope 100:277-280
Gibson S, Myer C, Strife J, et al (1996) Sleep fluoroscopy for
localization of upper airway obstruction in children. Ann
Otol Rhinol Laryngol 105:678-683
Green CE, Bauman NM, Smith RJH (2000) Pathogenesis and
treatment of juvenile onset recurrent respiratory papillo-
matosis. Otolaryngol Clin North Am 33:187-208
Hugosson S, Olcen P, Ekedahl C (1994) Acute epiglottitis - aeti-
ology, epidemiology and outcome in a population before
large-scale Haemophilus influenzae type b vaccination.
Clin OtoI19:441-445
Joseph PM, Berdon WE, Baker DH (1976) Upper airway
obstruction in infants and small children: improved radio-
graphic diagnosis by combining filtration, high kilovoltage
and magnification. Radiology 121:143
Konen E, Katz M, Rozenman J, et al (1998) Virtual bronchos-
copy in children: early clinical experience. AJR Am J Roent-
genol 171: 1699-702
Liptak CS, McConnochie KM, Roshmann KJ, et al (1997)
Decline of paediatric admissions with Haemophilus influ-
enzae type b in New York State, 1982 through 1993: relation
to immunization. J Pediatr 130:923-930
Long FR, Castile RG, Brody AS (1999) Lungs in infants and
young children: improved thin-section CT with a non-inva-
sive controlled ventilation technique - initial experience.
Radiology 212:588-593
Mancuso RF, Choi SS, Zalzal GH (1996) Laryngomalacia - the
search for the second lesion. Arch Otolaryngol Head Neck
Surg 122:302-306
Midwinter KI, Hodgson D, Yardley M (1999) Paediatric epi-
glottitis: the influence of the Haemophilus influenzae b vac-
cine, a ten-year review in the Sheffield region. Clin Otolar-
yngoI24:447-448
Potchen EJ (2000) Prospects for progress in diagnostic imag-
ing. J Intern Med 247:411-424
Robertson RL, Robson CD, Barnes PD (1999) Head and neck
vascular anomalies of childhood. Neuroimaging Clin North
Am 9:115-132
Rosin DF, Handler SD, Potsic WP (1990) Vocal cord paralysis
in children. Laryngoscope 100: 1174-1179
Rencken I, Patton WL, Brasch RC (1998) Airway obstruction
in paediatric patients - from croup to BOOP. Radiol Clin
North Am 36:175-187
Vandenplas Y, Beili D, Benhamou PH, et al (1996) Current
concepts and issues in the management of regurgitation
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Wiet q, Long FR, Shiels WE, et al (2000) Advances in paediatric
airway radiology. Orolaryngol Clin North Am 33:15-28
16 Airway Obstruction
A. E. BOOTHROYD

CONTENTS Stridor is due to airflow changes in the larynx, tra-

chea or bronchi. This chapter will address obstruc-
16.1 Introduction 213 tion distal to the larynx, which may result in stridor
16.2 Role of Imaging in Airway Obstruction 214 as one of the symptoms.
16.3 Types of Imaging Investigation 214
16.3.1 Plain Radiographs 214 The commoner causes of stridor are listed in Table
16.3.2 Bronchography 215 16.1. Most of these are readily identified by careful
16.3.3 Contrast Oesophagography 215 clinical assessment and endoscopy and this should be
16.3.4 Ultrasonography 215 performed in all cases (WIATRAK 2000). Endoscopy
16.3.5 Computed Tomography 215 should probably not be omitted in children who have
16.3.6 Magnetic Resonance Imaging 215
16.4 Imaging Features of Airway Abnormalities 216 a congenital abnormality demonstrated on MRI, as a
16.4.1 Congenital Anomalies 216 small percentage have dual pathology. In a study of
16.4.1.1 Tracheomalacia 216 MRI imaging of the airway in 51 children, 5 children
16.4.1.2 Congenital Vascular Anomalies 217 were found to have significant subglottic stenosis at
16.4.1.3 Bronchial Malformations 219 endoscopy in addition to the abnormalities demon-
16.4.1.4 Lymphangioma and Haemangioma 219
16.4.2 Acquired Disease 221 strated by MRI (RIMELL et al.I997). The role of radi-
16.4.2.1 Trauma 221 ology is to evaluate those children in whom there
16.4.2.2 Infection 222 are persistent symptoms despite normal or equivocal
16.4.2.3 Vascular 224 endoscopy, or to clarify the cause of extrinsic com-
16.4.2.4 Neoplastic and Other Proliferative Disorders 225 pression identified at endoscopy.
References 227

Table 16.1. Causes of stridor

Congenital Acquired
16.1
Introduction Larynx, supraglottic Trauma
Laryngomalacia Thermal and chemical
Web External
Airway obstruction may result in abnormal sounds Saccular cyst Post-intubation
arising from the respiratory tract. Distinguishing Cystic hygroma Surgical
between them is important since they localise the Laryngocele Foreign body
level of airway obstruction. Stertor or snoring is a Posterior laryngeal cleft Inflammatory
common finding in children and is a hallmark symp- Larynx, glottic Acute laryngitis
Web Laryngo-tracheo-bronchitis
tom of obstructive sleep apnoea (REES et a1.1998). Vocal cord paralysis Acute epiglottitis
When severe it may have a profound effect on day- Larynx, subglottic Diphtheria
time performance and lead to irreversible pulmo- Web Retropharyngeal abscess
nary hypertension. When not associated with cra- Stenosis Vascular
niofacial malformation or neuromuscular diseases it Haemangioma/ Enlarged great vessels
lymphangioma or cardiac chambers
can almost be totally cured by adenotonsillectomy. Trachea and bronchi Allergy
Stertor is caused by vibrations in the tissues of the Web Neoplasms
nasopharynx, pharynx or soft palate. Stenosis Benign
Tracheomalacia Malignant
Vascular compression Chest wall deformity
A.E. BOOTHROYD, MD Bronchogenic cyst
Consultant Paediatric Radiologist, Alder Hey Children's Hos- Congenital tumours
pital, Eaton Road, Liverpool, Ll2 2AP, UK
214
16.2
Role of Imaging in Airway Obstruction
The approach to imaging airway abnormalities is
rapidly evolving. Historically, plain radiography was
supplemented by contrast oesophagography to detect
vascular abnormalities. If the latter was positive,
angiography was usually performed. The advent of
CT allowed accurate evaluation of the airway lumen,
but CT was unable to provide direct images of
the mediastinum in the coronal, sagittal or oblique
planes, which are often the most useful for evaluat-
ing anomalies of the great vessels. Spiral CT provides
good definition of compressive tracheal abnormali-
ties, but like conventional CT still requires intrave-
nous contrast and involves exposure to ionising radi-
ation. Echocardiography has been used to assess the
great vessels but is limited by its inability to image
the tracheobronchial tree or the structures posterior
to it. Its value is in evaluating concurrent cardiac
abnormalities
MRI has major advantages over other imaging
techniques in its ability to define anatomy in the neck
and mediastinum in any plane. It provides excellent
soft tissue resolution and identification of vascular
structures without intravenous contrast.
16.3
Types of Imaging Investigation
16.3.1
Plain Radiographs
Plain radiographs of the airway are normally
requested as the first imaging modality. They can
be obtained quickly and often reveal a surprising
amount of airway anatomy. However, even small
degrees of rotation will obscure detail by superim-
posing other structures on the airway. This is a par-
ticular problem in the infant due to the laxity of the
soft tissues and flexibility of the laryngeal cartilage,
which means that in inspiration the subglottic region
may collapse, erroneously suggesting a subglottic ste-
nosis (VALVASSORI et al. 1984). Similarly, films taken
during expiration with the head and neck flexed may
produce dramatic distortion of the pharyngeal tis-
sues, suggesting a retropharyngeal abscess or mass.
However, a specific diagnosis can be made in many
cases. A review of 144 cases showed a high sensi-
tivity of plain radiographs (>86%) for the diagno-
sis of exudative tracheitis, airway foreign body and
A. E. Boothroyd
innominate artery compression. Laryngomalacia and
tracheomalacia were diagnosed with lower sensitiv-
ity, 5% and 62% respectively (WALNER et al. 1999).
Exudative tracheitis (bacterial tracheitis, membra-
nous croup) may show a linear airway filling defect,
a tracheal wall plaque, membrane or irregularity or
asymmetric subglottic narrowing. Foreign bodies are
usually easily identified if they are radiopaque but
may only be visible in one plane (Fig. 16.1). Radio-
lucent foreign bodies may demonstrate a soft tissue
density within the airway or airway narrowing. Hypo-
pharyngeal or oesophageal foreign bodies may also
cause airway compromise or posterior tracheal com-
pression. Innominate artery compression produces
an anterior compression of the trachea just inferior
to the thoracic inlet. In croup (laryngo-tracheo-bron-
chitis) radiographs show symmetric subglottic nar-
rowing, the "steeple sign". On the anteroposterior
projection, oedema of the subglottic mucosa sym-
metrically narrows the tracheal air column for 5-10
mm below the levels of the local cords. Ballooning
and over-distension of the hypopharynx may also
be seen. Children with epiglottitis typically show
enlargement of the epiglottis and aryepiglottic folds;
however, if epiglottitis is suspected clinically, radiog-
raphy is not indicated and may be dangerous. Sub-
glottic cysts and haemangiomas may be visible as an
asymmetrical subglottic narrowing or mass.
Fig. 16.1. Chest radiograph in a child with stridor. The linear
radio-opacity within the trachea is due to an inhaled flake of
paint. This was not visible "en face" on the lateral view of the
neck
Airway Obstruction
16.3.2
Bronchography
Bronchography is particularly helpful in assessing
variable airway obstruction since it is a dynamic
technique. It is used to demonstrate the airway col-
lapse secondary to tracheomalacia, particularly prior
to surgery. Although doubts have been expressed
about the safety of bronchography, close coopera-
tion between the radiologist and the anaesthetist
results in an excellent "real-time" study of the airway
(LITTLE et al. 1996). One to 2 ml water-soluble con-
trast medium is introduced via a catheter inserted
down the endotracheal tube and dispersed by hand
ventilating the infant. Care is taken to ensure that
the endotracheal tube tip remains proximal to the
malacic segment and continuous positive airway
pressure is varied to establish the pressure required
to maintain an open airway in expiration. Knowledge
of this pressure is useful in the clinical management
of the patient.
16.3.3
Contrast Oesophagography
Historically, contrast oesophagography has been used
as an indirect method of identifying vascular anoma-
lies responsible for airway compression. MRI has now
largely replaced angiography as an accurate method
of defining the vascular anatomy. However, oesopha-
gography should not be omitted since it will reliably
distinguish a double aortic arch with an atretic left
arch from a right aortic arch with aberrant left sub-
clavian and an atretic left-sided arterial duct. These
two commoner anomalies may appear identical on
MRI due to the inability of the technique to define
the atretic segments (GOMES et al. 1987)
16.3.4
Ultrasonography
Ultrasonography has a limited role in the assessment
of stridor, since the gas within the airway prevents the
transmission of the ultrasound wave and a full assess-
ment is difficult. However, it is reliable in identifying
cystic and solid structures within the neck which
may be responsible for airway compression. The use
of Doppler ultrasonography is particularly useful in
distinguishing haemangiomas from other soft tissue
masses (DUBOIS et al. 1998)
2IS
16.3.5
Computed Tomography
Spiral CT has major advantages over conventional
CT, particularly in children. Its speed means that in
many cases sedation can be avoided. In addition,
motion and respiratory artefact are minimised. The
technique allows three-dimensional reconstruction
and an endoscopic view of the entire airway. The
addition of intravenous contrast clearly demonstrates
the anatomical relationship between the airway and
the intrathoracic large vessels.
Three-dimensional CT is often valued by surgeons
preoperatively.
Although the technique is reliable in identifying
causes of intrathoracic airway obstruction (SAGY et
al. 1996), its major limitations in comparison to MRI
are the significant radiation dose and the require-
ment for intravenous contrast medium for a com-
plete examination. Accurate timing of the contrast
bolus is particularly important in children. However,
if MRI is not readily available, or if there are specific
contraindications to MRI such as a ferromagnetic
implant, CT will define the anatomy.
16.3.6
Magnetic Resonance Imaging
MRI has now become accepted as the single most
valuable modality for assessing airway compression.
It will demonstrate accurately and non-invasively
the level, severity and cause of airway compression.
A good correlation has been found between MRI
findings and findings at surgery and/or endoscopy
(AURINGER et al. 1991). When tracheomalacia has
been identified, MRI is particularly valuable in iden-
tifying or excluding an underlying pathology. In
addition to the classically described vascular rings
it may also demonstrate other extrinsic causes of
airway compression, including great vessel enlarge-
ment, cardiac chamber enlargement, mediastinal
masses and abnormal thoracic configuration (DON-
NELLY et al. 1997)
At our institution, standard circumferential coils
are used for image acquisition. The head coil is used
in infants and paediatric body coil in larger children
(usually over 12 kg). Tl-weighted spin-echo images
are obtained in at least axial and coronal planes,
and in the sagittal plane if required. Similarly, T2-
weighted and post-contrast images are obtained
when necessary. All children with stridor are imaged
216
under general anaesthesia with careful positioning of
the endotracheal tube as described in Sect. 16.3.2.
In addition to diagnostic information, MRI may
be useful in predicting the need for surgical inter-
vention. A good correlation has been found between
severity of symptoms and narrowing of the airway by
more than 50% (RIMELL et al. 1997).
MRI does have some limitations: it is expensive,
and compared to other imaging techniques it is time-
consuming. The relative inaccessibility of the inte-
rior of the magnet creates a potentially dangerous
situation even in the anaesthetised child, and in the
sedated child may precipitate loss of patency of the
airway (SHORTEN et al. 1995).
16.4
Imaging Features of Airway
Abnormalities
16.4.1
Congenital Anomalies
There are a variety of congenital anomalies which
may produce symptoms varying from mild stridor
to severe respiratory distress requiring emergency
airway management immediately after birth (WIA-
TRAK 2000). Some of these lesions may be relatively
asymptomatic in the neonatal period and present
later in life, but the most severe cases may be incom-
patible with life.
The number of severe and complex airway prob-
lems is increasing together with a demand for airway
imaging. This is due to the improved survival of pre-
mature infants and children with multiple congeni-
tal abnormalities. In a review of 56 patients requir-
ing tracheotomy for congenital airway abnormalities,
28 (50%) had cardiovascular or chromosomal abnor-
malities, neurological conditions or congenital syn-
dromes, 24 (43%) were born prematurely and 13
(23%) were found to have gastro-oesophageal reflux
(ALTMAN et aI.1997).
16.4.1.1
Tracheomalacia
Tracheobronchomalacia is a condition that results in
abnormal compliance of the airways, with airway col-
lapse being most marked in expiration. The trachea
and left main bronchus are most commonly involved.
It has been postulated that the left main bronchus
may be more commonly involved than the right due
A. E. Boothroyd
to compression by the adjacent left pulmonary artery
(LITTLE et al. 1996). Most patients have associated
congenital anomalies such as tracheo-oesophageal
fistulae, vascular rings or congenital heart disease.
Prematurity is implicated in the infants with no obvi-
ous associated abnormality.
The term "tracheomalacia" is misleading since
there is no evidence that the tracheal cartilage is
intrinsically soft. In a detailed description of the
pathology in children who died with oesophageal
atresia and tracheo-oesophageal fistula, 75% were
found to have a reduction in the length of the carti-
laginous ring and 60% had an increase in the length
of the transverse muscle of the posterior tracheal
wall (WAILOO and EMERY 1979). The combination of
the shortened cartilage ring and widened posterior
membranous part of the trachea results in loss of
the characteristic D-shape of the trachea and reduc-
tion in the antero-posterior diameter demonstrated
on cross-sectional imaging.
Evaluation of the dynamic process requires real-
time imaging to demonstrate the dynamic process.
Fluoroscopy, bronchography and cine CT have all
been used to evaluate tracheomalacia.
Fluoroscopy has the advantage of being the only
method of imaging the airway during normal behav-
iour such as feeding, coughing (SOTOMAYER et al.
1986) or sleeping, allowing assessment for sleep
apnoea due to a flaccid airway (ANDERSON et al.
1987). However, there is poor resolution of the distal
bronchial tree, and the nature and severity of small
changes in the calibre of narrow airways are best
recognised with bronchography (LITTLE et al. 1996).
Bronchography provides a panorama of the tra-
cheobronchial tree, delineating the anatomy and any
anomalous geometry of abnormal segments better
than the alternative methods. However, disadvan-
tages include the need for general anaesthesia and
the risk of desaturation because the contrast medium
may interfere with gas exchange. One death has been
reported, in a case where non-fluoroscopically guided
bilateral bronchograms were performed with aque-
ous Dionosil (propyliodone) heated in an autoclave,
which reduced its viscosity (McALISTER 1989). CT
has limitations in evaluating the length of tracheal
cranio-caudal movement in respiration and evaluat-
ing bronchial involvement due to the small size of the
bronchi. Cine CT can provide real-time imaging, but
the resolution is not good as with conventional or
high-resolution CT.
The association between tracheomalacia and gas-
tro-oesophageal reflux is well recognised, but the
mechanism is poorly understood. Reflux and pre-
Airway Obstruction
sumed aspiration causing respiratory infection has
been postulated as a cause of tracheomalacia (CAL-
LAHAN 1998). Another possible mechanism is that
airway obstruction in infants with tracheomalacia
induces wide swings in intrathoracic and abdominal
pressure that overcome the anti-reflux barrier and
cause gastro-oesophageal reflux (WANG et al.I993).A
further possible explanation for the combination of
tracheal and oesophageal abnormalities is that they
are one end of a spectrum of defects in embryonic
development, the "foregut separation malformation
sequence" (CALLAHAN 1998).
Tracheomalacia is also thought to be present to
some degree in all infants and children with oesopha-
geal atresia giving rise to the characteristic harsh, bark-
ing cough, the so-called tracheo-oesophageal fistula
cough or "TOF cough". Other symptoms include stri-
dor, wheezing and recurrent respiratory infections. Dif-
ficulty in breathing may make the infant appear reluc-
tant to feed. If the condition is severe, respiratory arrest
or "near-miss" sudden infant death may occur. (BEA-
SLEY and QI 1998). Theories for the association with
oesophageal atresia include extrinsic compression by a
dilated and hypertrophied upper oesophagus early in
foetal life, and the decompressive effect of the fistula
causing tracheal collapse by allowing lung fluid to leak
into the oesophagus (DAVIES and CYWES 1978).
16.4.1.2
Congenital Vascular Anomalies
The true vascular ring comprises a complete encircle-
ment of the trachea and oesophagus due to a congeni-
tal abnormality of the aortic arch. Other conditions
may result in incomplete encirclement, including
the pulmonary artery abnormality pulmonary sling.
Symptoms vary depending on the degree of tracheal
compression and may be absent even in the pres-
ence of a complete ring: 10% of children with Fallot's
tetralogy and a right aortic arch have an aberrant
left subclavian artery with a patent or ligamentous
arterial duct completing the ring (BLALOCK 1948).
However, vascular rings and slings usually present
in the neonate with respiratory symptoms, notably
stridor. Dysphagia occurs if there is sufficient com-
pression of the oesophagus, but tends to present only
once solid foods are introduced.
A chest radiograph is usually requested initially
but may be difficult to interpret, particularly in the
infant, with thymic tissue obscuring the superior
mediastinum. If the tracheal airway is visible it is nor-
mally displaced slightly to the right by the left aortic
arch. A tracheal airway which lies in the midline is
217
suggestive of a vascular anomaly. On a lateral radio-
graph the trachea is normally bowed slightly pos-
teriorly, but in the presence of a vascular ring it is
bowed anteriorly. If the arch or descending aorta is
visible, this may suggest a specific abnormality such
as a double arch or a cervical arch.
The contrast swallow is an indirect but reliable
method of identifying a vascular anomaly (BERDaN
and BAKER 1972). Occasionally it may provide impor-
tant information such as the distinction between a
double arch with an atretic left arch and a right arch
with an aberrant left subclavian and ligamentous
arterial duct (GOMES et al. 1987). MRI has largely
replaced the need for angiography to define the vas-
cular anatomy prior to surgery, due to its reliability
in demonstrating the vascular anatomy (BANK 1993).
MRI also images the trachea and confirms that the
narrowing is at the level of the vascular anomaly. This
is of value in innominate artery compression, when
the relationship between the vessels and trachea may
be difficult to identify (JAFFE 1991). It will also define
coexisting tracheal abnormalities; in a series of 16
patients undergoing surgery for a pulmonary sling,
14 were found to have complete tracheal cartilage
rings which also required surgical repair (BACKER et
al. 1999).
The commoner vascular rings are described below.
The double aortic arch comprises a right and
left arch which completely encircle the trachea and
oesophagus (Table 16.2). The carotid and subclavian
arteries arise separately from each arch and are nor-
mally symmetrically distributed around the trachea.
The right arch is dominant in approximately 75%
of cases. Atresia may occur and is then normally
within the left arch. Coarctation in either arch is
important to identify preoperatively. The contrast
swallow reveals bilateral indentations on the frontal
view and a posterior indentation on the lateral view.
Tl-weighted axial and coronal MRI will usually dem-
onstrate the vascular anatomy, but further views may
be needed if a coarctation or other abnormality is
suspected (Fig. 16.2).
The right aortic arch with an aberrant left subcla-
vian artery comprises a vascular ring if there is a left-
sided arterial duct (Table 16.2). The arterial duct may
be patent or ligamentous. Although the ligamentous
duct cannot be imaged directly, its presence is identi-
fied by the diverticulum of Kommerell, which is the
dilated proximal segment of the aberrant subclavian
artery. The dilatation is due to the blood flowing from
the arterial duct in utero. The contrast swallow dem-
onstrates a right-sided indentation from the right
arch and a posterior indentation from the Kommer-
218 A. E. Boothroyd

Table 16.2. Classification of aortic arch anomalies
1. Double aortic arch"
2. Left aortic arch
a. Normal anatomy
b. Aberrant right subclavian artery ("with right arterial duct)
c. Right descending aorta
(i) Normal brachiocephalic arteries"
(ii) Aberrant right subclavian artery"
d. Isolation of right subclavian artery
3. Right aortic arch
a. Mirror image branching
b. Mirror image branching, left retro-oesophageal arterial duct"
c. Aberrant left subclavian artery"
d. Isolation of left subclavian artery
e. Aberrant left innominate vein ("with left ductus)
f. Isolation of left innominate artery
"Lesions causing vascular rings.
ell diverticulum. MRI will reliably identify the pres-
ence of a ring provided the Kommerell diverticulum
is recognised (Fig. 16.3).
A left aortic arch with an aberrant right subcla-
vian artery is a common anomaly occurring on 0.5%
of the population (Table 16.2). It rarely causes symp-
toms unless it is associated with a common origin
of the right and left carotid arteries or with a tor-
tuous right common carotid artery, when tracheal
compression may occur. (McKAY et a1. 1982). Rarely,
a complete ring is present due to the presence of a
right-sided arterial duct, and this is reflected by the
presence of a Kommerell diverticulum.
The "circumflex" aorta is the name given to a
descending aorta on the opposite side to the arch.
A right arch with a left-sided descending aorta is

Fig. 16.2. A double aortic

arch is demonstrated in
a patient in whom a
coarctation was
suspected at echocar-
diography, but who had
clinically normal femoral
pulses. Tl-weighted axial
MRI demonstrates a
double aortic arch with
a dominant right arch.
Sagittal oblique views
confirmed the left-sided
coarctation

Fig. 16.3. Tl-weighted

axial MRI demon-
strates a right aortic
arch with an aberrant
left subclavian artery.
The ring is completed
by a ligamentous arte-
rial duct. This is indi-
cated by the Kommer-
ell diverticulum
(dilated proximal aber-
rant subclavian artery,
arrow)
Airway Obstruction 219

the commoner of the two. A complete ring occurs 16.4.1.3.2

when there is an arterial duct on the same side as the Bronchogenic Cyst
descending aorta arising from the aorta itself or an
aberrant subclavian artery. As with the other vascular Bronchogenic cysts are rare congenital benign masses
anomalies, MRI will reliably identify the side of the which are commonly located in the mediastinum or
descending aorta, the arrangements of the brachio- lung parenchyma. They are thought to result from the
cephalic arteries and the site of the arterial duct if abnormal budding of primordial lung tissue. Bron-
patent. chogenic cysts are most frequently unilocular and
The cervical aorta is defined by an aortic arch contain either clear fluid or, less commonly, haemor-
which extends above the level of the clavicular heads, rhagic secretions or air. It is unusual for them to
It may be associated with a vascular ring or produce have a patent connection with the airway, but such a
symptoms of tracheal compression due to crowding communication, if present, may promote cyst infec-
of structures at the level of the thoracic inlet (MOES tion by allowing bacterial entry but not fluid egress
1997). (RAPADO et al. 1998).
Innominate artery compression is a controversial Bronchogenic cysts have been classified accord-
topic and there is continuing debate as to whether the ing to site by MAIER (l948) into paratracheal, cari-
tracheal compression is due to an innominate artery nal, hilar, para-oesophageal and atypical (diaphragm,
which arises too far to the left or due to primary tra- abdomen, skin, subcutaneous tissue and supraclavic-
cheomalacia. Since few cases are due to a demonstra- ular region).
ble vascular anomaly (MUSTARD et al. 1969), MRI is Presentation may vary from an asymptomatic
invaluable in demonstrating the relationship between mass to life-threatening tracheal occlusion and car-
the compressed trachea and the innominate artery diac arrest (HARLE et al. 1999). Most commonly,
(FLETCHER and COHEN 1989). patients present with chronic or recurrent cough
"Pulmonary sling" is the term used to describe the associated with fever and wheezing.
situation when the left pulmonary artery arises from On the chest radiograph bronchogenic cysts appear
the right pulmonary artery and passes between the as spherical or oval masses with smooth outlines,
trachea and oesophagus, therefore producing a pos- projecting from either side of the mediastinum. They
terior impression on the trachea and an anterior are usually unilocular and are located close to the
impression on the oesophagus which is well dem- carina or mainstem bronchi. They may, however, arise
onstrated on oesophagography. Similar findings may anywhere along the course of the main airways and
be produced by the very rare condition of ductus can extend into the posterior mediastinum. They
sling. In this condition, the arterial duct connects the can be demonstrated on CT or MRI and their size
descending aorta to the right pulmonary artery and and shape and relationship to other structures deter-
passes similarly between the trachea and oesophagus mined. The fluid content normally has an average
(BINET et al. 1978). CT density of 0 HU, although it may be higher,
Other very rare anomalies such as the right aortic causing confusion with soft tissue lesions (YERMAN
arch with aberrant left innominate artery may result and HOLINGER 1990) T2-weighted MRI can elegantly
in a vascular ring (MOES 1997) but will not be dis- demonstrate the cyst in any plane (Fig. 16.4).
cussed further in this chapter. Surgical removal is advocated as most cysts even-
tually become symptomatic. Rarely, life-threatening
16.4.1.3 complications may occur including arrhythmias, pul-
Bronchial Malformations monary artery stenosis, cardiac tamponade, carci-
nomatous or sarcomatous transformation and giant
16.4.1.3.1 tension bronchogenic cyst (AKTOGU et al. 1996).
Anomalous Bronchial Bifurcations
16.4.1.4
A right upper lobe bronchus originating from the Lymphangioma and Haemangioma
right lateral wall of the trachea above the carina is rel-
atively common. In almost every case this is an inci- These congenital lesions are discussed together since
dental finding and is entirely asymptomatic. Bron- they often coexist within the same lesion. However,
chography may be required to delineate the exact in terms of practical management the lesions are
morphology. Other minor variations in the bronchial normally predominantly lymphangioma or predomi-
tree also occur and are, likewise, symptom-free. nantly haemangioma.
220
Fig. 16.4. Coronal T2-weighted MRI reveals a bronchogenic
cyst in a typical position. It is causing bilateral bronchial com-
pression
16.4.1.4.1
Haemangioma
Historically, a number of confusing descriptive terms
have been given to childhood haemangiomas and
vascular malformations. These include the term
"capillary haemangioma" used to describe portwine
stains which are permanent and also strawberry
birthmarks which involute.
The simplified classification of MULLIKEN and
GLOWACKI (1982) divides cutaneous vascular lesions
of childhood into two groups. Lesions which prolifer-
ate, then involute and show endothelial cell prolif-
eration are termed "haemangiomas". Those which
grow commensurately with the patient and demon-
strate normal endothelial turnover are termed "vas-
cular malformations". The two groups are distinct in
terms of clinical behaviour, pathological appearances
and treatment requirements.
Most lesions can be identified from their clinical
features. Haemangiomas are lesions of infancy,
although most are not present at birth. They typically
appear within the 1st month of life and demonstrate a
period of rapid growth over the 1st year, followed by
involution (MARQILETH and MUSELES 1965). Regres-
sion occurs in over 90% of children without any
treatment. Vascular malformations, by comparison,
are always present at birth, although they may not
be recognised, grow in proportion to the child and
do not involute. They may enlarge spontaneously by
A. E. Boothroyd
expansion of vascular spaces secondary to the devel-
opment of arteriovenous communications, throm-
bosis and ectasia. Such enlargement may be due to
trauma or normal changes of puberty and pregnancy
(BURROWS et al. 1983)
Imaging is used to clarify the nature of the lesion
and assess its suitability for the various therapeutic
options. Plain films may identify the soft tissue mass
and phleboliths may be visible within it. Bone changes
may be marked in association with a haemangioma
and include an increase or decrease in bone size, a
coarse trabecular pattern and cortical thickening and
erosions. Ultrasound will demonstrate the soft tissue
mass and features of a high vessel density through-
out the mass and a high peak arterial Doppler shift,
helping to distinguish haemangioma from other soft
tissue masses. Other masses which stimulate angio-
genesis, such as sarcomas, usually demonstrate new
vessel formation around the periphery of the mass
(DUBOIS et al. 1998). CT and MRI with intravenous
contrast will often demonstrate the feeding arteries
and draining veins and tissue enhancement analo-
gous to the staining seen at angiography. CT and MRI
are particularly valuable for lesions extending into
the mediastinum, where imaging with ultrasound is
limited by intervening lung. Angiography is usually
only used if there is an atypical presentation or if
angiographic intervention is contemplated. Haeman-
giomas are distinguished by the finding of a well-cir-
cumscribed mass and intense, persistent tissue stain-
ing. Vascular malformations show ectatic, dilated
vascular spaces with absent or faint tissue staining
(BURROWS et al. 1983).
Treatment is not usually considered for haeman-
giomas unless they threaten vital structures such as
the airway or result in other complications such as
high output cardiac failure or sequestration of plate-
lets leading to thrombocytopenia, Kasabach-Merritt
syndrome. Haemangiomas often respond to treat-
ment with corticosteroids, interferon and radiation
because they are the result of cellular proliferation.
Irradiation, is however not recommended. Vascular
malformations may be treated with percutaneous
embolisation or surgery.
The Klippel-Trenaunay-Weber syndrome was
originally defined as a unilateral extremity enlarge-
ment with cutaneous and subcutaneous haeman-
giomas, varicosities, phlebectasia and, occasionally,
arteriovenous fistula. Additional features including
lymphangioma and bony abnormalities have now
been recognised (GORLIN et al. 1990). Craniofacial
involvement is rare and may simulate the Sturge-
Weber syndrome.
Airway Obstruction
16.4.1.4.2
Lymphangioma
Lymphangiomas are congenital malformations of the
lymphatic system resulting in a mass of dilated lym-
phatics. The aetiology is thought to be due to obstruc-
tion of efferent channels due to either a develop-
mental defect or a primary malformation. Most -
80%-90% - appear before the end of the 2nd year of
life. Approximately 75% arise in the head and neck,
and these may extend into the mediastinum. Both
sites may therefore give rise to airway compression.
Severe airway compression resulting in emergency
tracheostomy and death has been reported in the
neonate (BENACERRAF and FRIGOLETTO 1987). Accu-
rate definition of the lesion by radiology is impor-
tant for planning management, as lesions containing
haemangioma, lipoma or vascular malformation may
require a combination of treatments.
Ultrasound can accurately define the lymphangi-
omatous nature of the clinical mass. Characteristically
lymphangiomas are multiloculated cystic masses. The
fluid within them is anechoic unless there has been
recent haemorrhage or infection, in which case it may
become echogenic. Ultrasound is particularly good at
demonstrating fine septae within the lymphangioma
which may not be visible on MRI. These fine septae are
important,since ifthey are very extensive they may make
the lesion unsuitable for percutaneous sclerotherapy.
The limitations of ultrasound are its inability to dem-
onstrate deep extension in some circumstances, such as
extension into the chest in older children, and more dif-
ficult comparison of complex lesions on follow-up imag-
ing. Lymphangiomas are shown particularly well on
T2-weighted MR images because the fluid within them
generates high signal (Fig. 16.5). Because of its high-con-
trast resolution and capacity for multiplanar imaging,
MRI where available has come to replace CT.
Although pathologically benign, lymphangiomas
may be very extensive, infiltrative and involve ana-
tomically complex areas of the body. This is particu-
larly true when they occur in the neck and mediasti-
num, and has led to the development of non-surgical
treatment of lymphangiomas including aspiration,
sclerotherapy and radiotherapy (the latter is not rec-
ommended in children). Sclerotherapy has been per-
formed using a number of agents including bleo-
mycin (OKADA et al. 1992), tetracycline-dextrose
(HANCOCK et al.1992) and OK 432 (OGITA et a1.1991).
Reported outcomes vary but compare favourably
with those of surgery (OGITA et a1.199l). Bleomycin,
however, has been associated with pulmonary fibro-
sis, which may be fatal.
221
Fig. 16.5. Axial T2-weighted MRI defines the extent of a
lymphangioma. Extension across the midline has resulted in
displacement of the trachea anteriorly and to the right, requir-
ing endotracheal intubation
16.4.2
Acquired Disease
16.4.2.1
Trauma
Trauma resulting in airway compression can arise
from a variety of mechanisms. These include ther-
mal or chemical injury, stenosis secondary to intuba-
tion and haematoma secondary to external trauma
or surgery.
Narrowing of the subglottic airway may be iden-
tified on the chest radiograph of infants and chil-
dren who have suffered smoke inhalation, usually as
a result of house fires. This is due to oedema and gen-
erally resolves spontaneously.
Subglottic stenosis may also occur secondary to
intubation; the incidence is increasing because of
the improved survival of preterm infants who have
required prolonged ventilation. Several factors are
involved in the development of subglottic stenosis
secondary to intubation. These include the material
from which the tube is made, the shape and size of
the tube, the method of fixation and the care of the
patient whilst intubated. Awareness of these factors
is important in order to reduce the incidence of sub-
glottic stenosis (NICKLAUS et al. 1990).
Acquired laryngeal stenosis may be divided into
soft and hard forms. In soft stenosis there is acute
inflammatory oedema of the mucosa and submu-
cosa. Mucosal ulceration then develops due to muco-
sal abrasion from poor fixation of the endotracheal
222 A. E. Boothroyd

tube or because of pressure if the tube is too large.

The process of ulceration is accelerated by infection;
good aseptic technique and strict hygiene will mini-
mise the infective complications of intubation.
Chemical irritation from rubber or plasticisers
used to soften plastic tubes may further aggravate
the ulceration, as will any residue of chemicals used
in the sterilisation of tubes, such as ethylene oxide
(GUESS and STETSON 1970). The ulceration eventu-
ally exposes the perichondrium of the cricoid carti-
lage, causing perichondritis and chondritis. This is
usually associated with the production of granula-
tion tissue and fibrosis. The stenosis associated with
infection of the cricoid cartilage is of the hard vari-
ety and therefore unresponsive to dilatation (EVANS
1997)
The diagnosis of subglottic stenosis secondary
to intubation is usually made endoscopically. Plain
radiographs of the airway are unreliable: both
false positive and false negative findings have been
reported (CINNAMOND 1997).
Other iatrogenic causes of laryngeal stenosis
include the prolonged treatment of juvenile laryngeal
papillomas and injudicious use of the COzlaser.
Haematomas at various sites may lead to airway
obstruction and may be secondary to the external
trauma or post-surgical. They may also occur sponta-
neously in children with underlying conditions such
as rheumatoid arthritis (THATCHER and GEORGE
1987) and polycythaemia rubra vera (MACKENZIE Fig. 16.6. A lateral soft tissue view of the neck shows tracheal
compression due to a haematoma following a fracture of the
and JELLICOE 1986). mental process of the mandible
Post-traumatic haematomas casing airway
obstruction include retropharyngeal haematoma sec-
ondary to head injury and haematomas into the
genioglossus muscle from the lingual artery and into helpful in demonstrating a bronchial foreign body.
the axilla from fracture of the humerus (Cox 1998). Ingested foreign bodies may also result in airway
Plain radiographs are reliable in detecting the airway compression following impaction due to bruising,
compression and/or displacement (Fig. 16.6), but CT infection or migration of the foreign body into the
or MRI are more reliable in defining the extent of tracheobronchial tree (LIM and LOH 1992; SATOH et
the haematoma if required. Oral intubation has been al. 1999).
advocated in early or less severe cases of airway com-
promise, but tracheostomy under local anaesthesia 16.4.2.2
should be performed if the tube is difficult to pass Infection
(SHAW et al.1995). Surgical drainage may be required
for expansile lesions or large haematomas that do not Infection is a common cause of acquired airway
resolve. obstruction in childhood. A rapid diagnosis is
Inhaled foreign bodies may result in compromise required and may often be made clinically, although
of the airway. Plain radiographs may be helpful in radiology is required in some instances. A variety
demonstrating a radiopaque foreign body or any of organisms, both bacterial and viral, have replaced
associated oedema or bruising. Further imaging that Corynebacterium diphtheriae as the commonest
might delay endoscopy is not usually requested for cause of acute laryngeal infection. Despite the fact
upper airway foreign bodies. However, inspiratory that diphtheria is extremely rare in countries with a
and expiratory chest radiographs and CT may both be high uptake of routine immunisation, it remains an
Airway Obstruction
important differential diagnosis, especially in immi-
grants who may not have been immunised.
16.4.2.2.1
Acute Epiglottitis
Acute epiglottitis constitutes a paediatric emergency.
It is rare but still carries a significant mortality rate of
3%-4 % even in experienced hands (FEARON 1975).
Haemophilus influenzae type B is the most common
causative organism and there has been a dramatic
decrease in the incidence since the introduction of
the Hib vaccine. The typical clinical presentation is of
rapid deterioration of a fit child to one who is desper-
ately ill. Initially, the child complains of a sore throat,
which intensifies, and within half an hour dyspha-
gia is reported. Rapidly worsening inspiratory stri-
dor develops and the child becomes critically ill. The
child sits up and leans forward to prevent suffocation
as a result of the epiglottis occluding the laryngeal
inlet. Dribbling of saliva is profuse due to total dys-
phagia. Inspiratory stridor lessens with fatigue; this
is an ominous sign suggesting imminent cardiac and
respiratory arrest. Although plain radiographs may
show the classical "thumb" sign on the lateral neck
film, radiographic imaging and any other procedures
which involve restraint or undressing are contra-
indicated since they may cause crying and precipi-
tate immediate respiratory arrest (WILLIAMS et al.
1985).
16.4.2.2.2
Laryngo-tracheo-bronchitis (Croup)
Laryngo-tracheo-bronchitis is the most common
infective cause of upper airway obstruction in chil-
dren. There is gross subglottic oedema and some-
times ulceration. The infection may spread to involve
the remainder of the tracheobronchial tree. Unlike
epiglottitis, it is always preceded by an upper respira-
tory tract infection. Symptoms include hoarseness
and a characteristic "croupy" cough likened to the
"bark of a seal". Stridor and respiratory distress
increase and the child becomes restless, in contrast
to the child with epiglottitis, who is pale and quiet.
Many cases are diagnosed on clinical grounds, and
provided epiglottitis is unlikely, conservative man-
agement with careful observation is usually all that is
required as the disease settles. Plain radiographs may
be performed, for example, to exclude a retropharyn-
geal abscess. These show the typical "steeple sign" of
the subglottic oedema and may also show ballooning
of the hypopharynx.
223
16.4.2.2.3
Bacterial Laryngo-tracheo-bronchitis (Pseudomem-
branous Croup)
This condition may be a separate disease or be
caused by a secondary bacterial infection of the viral
laryngo-tracheo-bronchitis described above. It is a
much more severe illness than virallaryngo-tracheo-
bronchitis, but is fortunately also much less common
(WALKER and CRYSDALE 1992).An artificial airway is
often needed, but this may become obstructed with
crusts of sloughed epithelium.
The causative organism in most cases is Staphylo-
coccus aureus. Typically, the child is thought to have
severe laryngo-tracheo-bronchitis and requires intu-
bation. The diagnosis is usually made at bronchos-
copy when ulcerated and sloughed epithelium is
identified.
16.4.2.2.4
Diphtheria
Diphtheria is now extremely rare in countries with
routine immunisation programs, with only 70 cases
in the USA in 1984 (BRONIATOWSKI 1985). The
diagnosis is usually made by direct inspection of
the tonsil, where the characteristic grey membrane
is formed. This is produced by a combination of
necrotic tissue, fibrinous exudate and a large number
of bacteria.
The clinical onset is insidious with a barking
cough, and inspiratory stridor and general signs of
toxaemia subsequently develop. Death may occur due
to laryngeal obstruction or due to the production of
endotoxins causing myocarditis or a peripheral neu-
ritis. Palatal paralysis is the commonest peripheral
neuropathy and results in nasal regurgitation of food
and "nasal escape" of the voice.
16.4.2.2.5
Retropharyngeal Abscess
A retropharyngeal abscess is a potentially serious dis-
ease which must be recognised early to avoid poten-
tially lethal complications. In children the abscess
usually results from lymphatic spread of infection
from the ear, nose or throat. This is most common
in children under 5 years of age, as they possess
the largest number of retropharyngeallymph nodes.
Common organisms isolated include Streptococcus
pyogenes and Staphylococcus aureus. In a series of a
19 patients the clinical presentation was similar, with
fever (84%), sore throat (73%), dysphagia (68%) and
224 A. E. Boothroyd

torticollis (68%) at presentation (GOLDENBERG et al.

1997). In this series a lateral neck radiograph was per-
formed and considered diagnostic in all cases. The
criterion used was that the retropharyngeal space
measured from the posterior wall of the pharynx to
the anterior border of the second cervical vertebra
was widened to more than twice the antero-posterior
diameter of the cervical vertebra. Other signs sugges-
tive of an abscess are gas in the pre-vertebral tissue,
evidence of a foreign body and loss of the normal
curvature of the cervical spine.
However, widening of the retropharyngeal space
can also be caused by cellulitis or oedema, or can
be erroneously suggested by a radiograph taken with
the neck in flexion. For these reasons, CT with intra-
venous contrast is used. It can differentiate between
cellulitis and an abscess, and can also provide better
localisation of the level and extent of the abscess
prior to surgical drainage (Fig. 16.7) (WHITE 1985).
Fig. 16.8. Tl-weighted MRI demonstrates an irregular sub-
16.4.2.2.6 carina! mass which was confirmed to be due to tuberculous
Tuberculosis involvement of subcarinallymph nodes. Right-sided pulmo-
nary consolidation is noted
Tuberculosis may, uncommonly, cause a retropharyn-
geal abscess producing similar radiological appear-
ances to those described above. Tuberculous infec- 16.4.2.3
tion of the mediastinum may also result in airway Vascular
compression of either the trachea or the bronchi (Fig.
16.8). Although congenital vascular anomalies are well
recognised as a cause of airway compression, acquired
vascular abnormalities may also result in extrinsic
airway compression. The mass effect from an abnor-
mal course, enlargement or malposition of any vas-
cular structure adjacent to the airway can cause
compression. In many such cases the airway is com-
pressed at the level of the carina or proximal main
bronchi. Radiographs are insensitive for detecting
compression of the distal airway, and in these cases
radiographic findings are often normal (DITCHFIELD
and CULHAM 1995).
In a study of 34 children with clinical evidence
of chronic airway obstruction, MRI indicated vascu-
lar compression as the cause in 15 (AURINGER et al.
1991). Of these 15 cases, in 8 the compression was the
result of a congenital vascular ring or sling and in the
remaining 7 it was due to a variety of vessel or cardiac
chamber enlargements. These included dilated pul-
monary arteries, left atrial enlargement and a malpo-
sitioned aorta.
Left atrial enlargement can compress the left main
Fig. 16.7. Contrast-enhanced axial CT confirms the presence bronchus. Causes of left atrial enlargement in children
of a retropharyngeal abscess. The trachea has been displaced include cardiomyopathy, myocarditis, large left-to-right
to the left shunts and mitral insufficiency (DONNELLY et al.1997).
Airway Obstruction
Enlargement of the ascending aorta can cause
anterior compression of the distal airway. Causes
include aneurysms such as in Marfan's syndrome
or cystic medial necrosis, post-stenotic aortic dila-
tation and congenital heart disease which results in
an increased aortic outflow. Congenital heart disease
particularly associated with such aortic dilatation
includes pulmonary atresia and Fallot's tetralogy, but
other lesions include truncus arteriosus and very
complex congenital heart disease (McELHINNEY et
al. 1999; CAPITANIO et al. 1983) (Fig. 16.9).
Enlarged pulmonary arteries can compress the
airway against the descending aorta or spine (DITCH-
FIELD and CULHAM 1995). Causes include left-to-
right shunts, pulmonary artery hypertension and
congenital absence of the pulmonary valve. Dilata-
tion of the branch pulmonary artery may be unilat-
eral if it is associated with congenital hypo- or aplasia
of the lung (HOFMANN et al.1991).
16.4.2.4
Neoplastic and Other Proliferative Disorders
Both benign and malignant tumours may result in
displacement and compression of the airway. Malig-
nant tumours are discussed in Chap. 19. In addi-
tion, other infiltrative processes such as the fibroma-
toses and neurofibromatoses may also cause airway
obstruction.
16.4.2.4.1
Teratoma
Mediastinal teratomas account for 10% of all terato-
mas in children and the majority (95%) are benign
Fig. 16.9. Tl-weighted coronal MRI demonstrates compression
of the left main bronchus by neo aorta in an infant who has
undergone stage I of the Norwood procedure for hypoplastic
left heart syndrome
225
(CARNEY et al. 1982). However, because oftheir position
they may produce acute or chronic airway compres-
sion. The importance of neonatal teratomas is in their
potential to cause severe airway obstruction requiring
urgent intervention (MOLIGNER et al. 1992).
The mass is usually identified on plain radio-
graphs and calcification may be identified. Teeth,
classically seen in benign cystic teratomas of the
gonads, are pathognomonic of this tumour. Cross-
sectional imaging demonstrates the size of the mass
and normally reveals solid and cystic components.
Treatment is surgical, with the approach dependent
on the tumour site. In mediastinal lesions, tracheo-
malacia due to compression of the trachea by the
tumour may also be evident and require aortopexy.
16.4.2.4.2
Langerhans' Cell Histiocytosis
Langerhans' Cell Histiocytosis (LCH) embraces the
conditions known as histiocytosis, eosinophilic granu-
loma, Hand-Schiiller-Christian disease and Letterer-
Siwe disease. The disease is characterised by the
presence of Langerhans' histiocytes accompanied by
"small round cells" and eosinophils. The exact aetiol-
ogy of LCH is unknown, but it is related to overpro-
liferation of the Langerhans' cell, a monocyte-derived
antigen-presenting cell, and its accumulation in vari-
ous organs (EGELER and D'ANGIO 1995). The thymus
is commonly involved in LCH, especially in multisys-
tem disease, and may result in airway compression.
Radiologically, the thymus is enlarged, although this
may not always be evident on the plain radiographs.
CT reveals an enlarged thymus which may be smooth
or lobulated/nodular in contour, possibly containing
cysts and calcification (JUNEWICK and FITZGERALD
1999). CT is superior to MRI in demonstrating the
punctate calcification, which is thought to represent
enlarged calcospherites or calcific debris in Hassall's
bodies (HELLER et al. 1999) (Fig. 16.10) . The CT
appearance of the thymus returns to normal following
treatment (JUNEWICK and FITZGERALD 1999).
When LCH is limited to one system, spontaneous
resolution usually occurs and a period of observa-
tion is appropriate. Systemic treatment is required for
patients with multisystem involvement.
16.4.2.4.3
Neurofibromatosis Type I (Von Recklinghausen's
Disease,"Peripheral" Neurofibromatosis)
Neurofibromatosis type I (NF-l) is characterised by
multiple cutaneous skin lesions, CNS tumours and
226
Fig. 16.10. Axial CT with contrast enhancement demonstrates
an enlarged thymus with areas of calcification typical of Lang-
erhans' cell histiocytosis. There is compression of the left main
bronchus
mesoderm dysplasia. It is autosomal dominant with
an incidence of 1:3000 and is due to a mutation of
chromosome 17. It has a high penetrance with vari-
able expressivity, but about 50% of patients have
mutations, with no family history. It is not an absolute
clinical entity and up to seven forms may exist. The
diagnosis of NF-l requires two or more of the follow-
ing: six or more cafe au lait spots, one plexiform or
two ordinary neurofibromas, two or more Lisch nod-
ules (pigmented iris hamartomas), axillary or ingui-
nal freckling, optic nerve glioma, a first-degree rela-
tive with NF-l, one or more distinctive bone lesions,
e.g. sphenoid dysplasia, pseudarthrosis, thinning of
a long bone cortex (HERRON et al. 2000).
Neurofibromas or plexiform neurofibromas may
involve the neck or mediastinum, resulting in airway
compression. When large, they are visible on plain
radiographs. MRI is probably superior to CT in dem-
onstrating infiltrative lesions because it provides
better tissue contrast resolution and the opportunity
for imaging in any plane.
16.4.2.4.4
Fibromatosis
The fibromatoses are a loosely related group of condi-
tions characterised by a non-metastasing prolifera-
tion of fibroblasts (SOPER and SILVA 1993). Although
fibromatoses occurring in adults are usually well
defined and clearly recognisable lesions, those affect-
ing infants and children show a more variable pic-
ture and differ considerably from those in adults in
histological appearances and behaviour (CHUNG and
ENZIGER 1981). Palmar fibromatosis, plantar fibro-
A. E. Boothroyd
matosis and Peyronie's disease represent site-specific,
localised forms of fibromatosis in adults. In contrast,
fibromatosis is found with a greater frequency in chil-
dren and an increased tendency for local recurrence
(STOUT 1954).
Intrathoracic fibromatoses are rare in both adults
and children (SHAH et al. 2000; OKAMURA et al.
1995). They typically arise from the chest wall and
are associated with rib destruction. When large, they
may cause airway displacement and obstruction.
Extremely rarely, small tracheal lesions have resulted
in airway obstruction (BOOTHROYD et al. 1995).
Plain films may demonstrate a mass lesion when
the lesion is large, and may also show airway com-
pression and rib destruction. On CT the lesions show
similar or increased attenuation compared with skel-
etal muscle after contrast enhancement (OKAMURA
et al. 1995).
MRI demonstrates variable signal intensity on
both Tl- and T2-weighted images, together with
strikingly high signal areas on T2-weighted images.
These areas of high signal intensity correspond
to variable grades of cellularity, collagenisation or
myxoid change (AHN et al. 2000). The masses also
show contrast enhancement on MRI.
On CT and MR, therefore, the fibromatoses show
similar features to malignant tumours such as fibro-
sarcoma and rhabdomyosarcoma. Fibromatosis is an
important differential diagnosis, since it does not
result in distant or regional metastases and prognosis
following complete surgical removal is good, despite
problems with local recurrence.
16.4.2.4.5
Abnormal Thoracic Configuration
The association between deformity of the thorax and
development of respiratory dysfunction is well recog-
nised, and severe kyphoscoliosis has been shown to
be associated with restrictive lung disease. However,
the abnormal configuration of the thorax can also
cause obstructive airway disease, either because of a
reduced antero-posterior chest diameter or because
of twisting of the mediastinal structures in associa-
tion with a kyphoscoliosis (DONNELLY et al. 1997).
Both mechanisms result in compression of the tra-
chea or main bronchi, causing airway compression
(DONNELLY and BISSETT 1998). The most common
sites for such airway compression include the trachea
at the level of the thoracic inlet and the left main
bronchus (DONNELLY and FRUSH 1999). Both CT and
MRI will demonstrate the chest wall deformity and
secondary airway compression (Fig. 16.11).
Airway Obstruction
Fig. 16.11. Axial CT reveals mild compression of the left main
bronchus in a patient with pectus excavatum
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17 Foreign Bodies and Trauma
A. SPRIGG

This chapter is dedicated to the memory of Small children put objects in their mouth as part
Dr Claire Dicks-Mireaux, of the normal phase of oral exploration. Inhaled for-
consultant paediatric radiologist, London eign bodies are rare before 6 months of age, but
three-quarters are seen in small children under the
CONTENTS age of 5 years (LINEGAR et al. 1992). There is a second
peak in adolescence when objects, especially school
17.1 Foreign Bodies 229 supplies, are inadvertently inhaled having been held
17.1.1 Airway Management 229 in the mouth (LEMBERG et al. 1996), or where catch-
17.1.2 Clinical Presentation 230
17.1.3 Imaging Methods 231 ing nuts in the mouth leads to unexpected aspiration.
17.1.4 Radiological Presentation 233 Children with neuromuscular impairment are also at
17.1.5 Radio-opacity of a Foreign Body 234 risk of foreign body inhalation because of their poor
17.1.5.1 Inherent Radio-opacity 234 co-ordination of swallowing mechanisms.
17.1.5.2 Relative Radio-opacity 234
17.1.5.3 Observer Variability 234
17.1.5.4 Radiographic Factors 235
17.1.6 Identifying the Site of the Foreign Body 235
17.1.6.1 Foreign Body in the Trachea 17.1.1
Versus the Oesophagus 235 Airway Management
17.1.6.2 Foreign Body in the Post-nasal Space and
Upper Airway 236
17.1.6.3 Tracheobronchial Foreign Body 237 Acute airway obstruction presents in the commu-
17.1.7 Bronchoscopy and Its Complications 238 nity and is frequently managed outside hospital by
17.1.8 Anaesthetics Aspects of Foreign Bodies 239 trained bystanders, either using back blows or chest
17.1.8.1 Endotracheal Tube 239 thrusts in an infant, back blows in a small child or the
17.1.8.2 Teeth 239 Heimlich manoeuvre (HEIMLICH 1975) or abdominal
17.1.8.3 Tracheal Stenosis 240
17.2 Neck and Upper Airway Trauma 241 thrusts in the older child or young adult (ADVANCED
17.2.1 Penetrating Injury 241 LIFE SUPPORT GROUP 1997). Emergency tracheos-
17.2.2 Blunt Trauma 241 tomy may be needed. Although the number of chil-
17.2.3 Tracheal and Bronchial Injury 242 dren dying from acute airway occlusion due to a for-
References 243
eign body is declining with greater education, over
2000 children die in the USA every year from this
cause (BLACK et al. 1994; FRIEDMAN 2000). Airway
occlusion due to inhalation of deflated balloons is
17.1 especially hazardous (RYAN et al. 1990).
Foreign Bodies In a child with acute airway compromise, radiog-
raphy is contraindicated unless it is in a controlled
Foreign bodies may be found in any site in the airway, situation with an anaesthetist present who is capa-
from the tip of the nose to the peripheral bronchus. From ble of rapid intubation to maintain the airway; i.e.
the history it is sometimes unclear whether a missing resuscitate first (including intubation) and radio-
object has been inhaled or swallowed by the child. graph later. If radiography is necessary, it should be
performed in the resuscitation room in the accident
and emergency department rather than moving a
A. SPRIGG
critically ill child into the relatively unsafe environ-
Consultant Pediatric Radiologist, Sheffield Children's Hospital, ment of the radiology department. See Fig. 17.1 for a
Western Bank, Sheffield, S10 2TH, UK suggested diagnostic imaging algorithm.
230 A. Sprigg

History and Examinaton

1
<
Unsafe Airway = Intubation (and bronchoscopy)
Assessment of Airway
Stable Airway

~
Imaging

Imaging Sequence, depending on history and signs:

Chest X-ray PA erect on inspiration

Chest X-ray lateral and? PNS ----1~~ If Abnormal =Bronchoscopy
Chest X-ray expiration or fluoroscopy

1~
If all Normal
Observe

Follow-up (Chest X-ray)

Bronchoscopy dependending on clinical history or suspicion

Fig. 17.1. Suggested algorithm for diagnostic imaging in cases of possible inhaled foreign body

17.1.2 diagnosis. Symptoms ca.used by an inhaled foreign

Clinical Presentation
Other children - those without acute airway compro-
mise - should undergo a complete clinical assessment
before any imaging is requested (SCHLESINGER and
HERNANDEZ 1990). Many foreign bodies impacted in
the nose or mouth or in enlarged tonsils are visible
to direct inspection if the child is co-operative and
a good light source is available. This may limit the
need for radiography.
A good clinical history is essential to making an
accurate diagnosis, but this is present in less than
75% of cases (MOAZAM et al. 1983; BLACK et al. 1994;
INDUDHARAN et al. 1997). A clear history of a chok-
ing episode can be difficult to obtain from small chil-
dren, in older children with neurological handicap
and where there are language or communication bar-
riers with the carers (DAVIS 1966; WISEMAN 1984;
LINEGAR et al. 1992; METRANGELO et al. 1999).
Because chest films can give false positive and false
negative findings, a high index of suspicion is the
most important element of the diagnosis (PUHAKKA
et al. 1989; FRIEDMAN 2000). Failure to consider for-
eign body inhalation as one cause of diverse airway
and respiratory symptoms may lead to delay in final
body may be difficult to differentiate from symptoms
stemming from other causes including upper respi-
ratory tract infection, lower respiratory tract infec-
tion and asthma, or other causes of airway compres-
sion. Presentation may be as an acute admission with
sudden onset of stridor, wheezing or cough, or as a
more delayed chronic presentation or with recurrent
pneumonia (MANTEL and BUTENANDT 1986).
It is difficult to differentiate between symptoms
from a laryngeal foreign body and those from a tra-
cheobronchial foreign body (Table 17.1). Both over-
lap with those of asthma and "wheezy bronchitis."
Upper airway (laryngeal) problems may present with
stridor, which also has a wide differential diagnosis
(ESCLAMADO and RICHARDSON 1987) (Chap. 15).
Table 17.1. Symptoms and signs of laryngeal and tracheo-
bronchial foreign bodies. The symptoms are non-specific and
mimic those of many other diseases
Laryngeal Tracheobronchial
Pain Chest pain
Stridor
Cough Cough
Wheeze generalised Wheeze localised
Unilateral reduced air entry andJor signs
Foreign Bodies and Trauma
Clinical signs of unilaterally reduced air entry and
unilateral wheeze are found in less than half of chil-
dren with a bronchial foreign body.
17.1.3
Imaging Methods
If the clinical history is insufficient to proceed
directly to bronchoscopy and the child does not have
acute airway compromise, then good-quality radio-
graphs should be made of the upper trachea, includ-
ing an erect posteroanterior (PA) chest radiograph.
If it is uncertain whether the foreign body has been
swallowed or inhaled, a metal detector may be useful
in locating metallic foreign bodies (Ros and CETTA
1992a, b; TIDEY et al. 1996; DORAISWAMY et al. 1999),
leading to more localised radiography and thus limit-
ing the number of areas exposed. The sensitivity of
metal detectors is operator-dependent, but their use
is of proven benefit. A metal detector may also detect
an aluminium foreign body that is poorly radio-
opaque (RYAN et al. 1995).
Swallowed foreign bodies may be detected in the
oesophagus or bowel below the level of the hemidia-
phragms (Fig. 17.2) (O'NEILL et al. 1983). If the for-
eign body is not visible on the PA chest radiograph,
then films of the post-nasal space and lateral view of
the neck should be taken as the foreign body may
have been pushed up the nose (Fig. 17.3). The neck
film is best taken in the erect position with the neck
extended. In infants, when a PNS film is taken in flex-
Fig. 17.2. Oesophageal versus inhaled foreign body. Chest
radiograph. The "inhaled" coin is below the level of the carina,
i.e. in the oesophagus
231
Fig. 17.3. Nasal foreign body. A missing "inhaled" watch bat-
tery was finally located in the nose
ion, the natural laxity of the trachea and prevertebral
soft tissues may simulate a retropharyngeal mass.
A lateral chest radiograph may detect a foreign
body obscured by the spine on the PA film, or lying
transversely across the trachea (NAVEH et al. 1975;
ROGERS and IGINI 1975), especially if it is only slightly
radio-opaque (Fig. 17.4).
If the plain chest radiograph is normal, inspira-
tion and expiration radiographs should be obtained
if there is sufficient clinical suspicion and bronchos-
copy is not planned immediately. Expiratory radio-
graphs may show mediastinal shift due to relative
over-expansion of the affected lobe in expiration
(BLACK et al. 1994). If this is due to air trapping,
caused by the foreign body itself within the bronchus
or by a ball (check) valve effect, mediastinal shift may
be seen (Fig. 17.5).
If the child is too young or uncooperative to per-
form inspiration and expiration films, then assisted
expiration films may be useful, where an assistant
pushes upwards in the epigastrium (WESENBERG and
BLUMHAG EN 1979). Alternatively, fluoroscopy may be
useful (Fig. 17.6). In the fluoroscopy room a small
child will often cry or scream. The movement of the
diaphragms and mediastinum with inspiration and
expiration can be observed, and may reveal unilateral
obstructive emphysema (BLAZER et al. 1980). This
should only be performed when there is no airway
 232 A. Sprigg

Inspiration/expiration CXR : Ball valve effect

(FB in left main bronchus)

R L

Mediastinum
Inspiration expiration moves away
from affected
a
side

Fig. 17.5. InsplratlOn/explratIon chest radIograph: ball tcheck)

valve effect (foreign body in left bronchus)

Fig.17.4a, b. Poor inherent radio-opacity in an aluminium

foreign body. a PA chest radiograph shows right middle lobe
consolidation. No opaque foreign body is seen in the tra-
chea. b Lateral chest radiograph shows a curved opacity in
the bronchus: an aluminium soda can tab inhaled 6 months
previously

compromise, and preferably with a paediatrician or

an anaesthetist in attendance in the fluoroscopy
room. The examination should be recorded on video,
so that other clinicians may review the study with-
out the child having to be re-screened. This mini-
Fig. 17.6. Unilateral hyper-lucency - non-opaque foreign body.
mises radiation dose. The screening time should be
Chest radiograph shows decreased aeration of the right lung
under 1 min. Prolonged use of fluoroscopy increases with no mediastinal shift. Fluoroscopy showed mediastinal
the radiation dose (McDONALD 1997), as does the shift to the left in expiration at the end of crying. A plastic
exposure of multiple spot films. foreign body was retrieved from the right main bronchus
Foreign Bodies and Trauma
Fig. 17.7. Pneumomediastinum with foreign body. The thymus
on the left side is outlined by the pneumomediastinum. There
is subcutaneous emphysema in the neck and right upper lobe
consolidation. This infant had chewed on and aspirated plas-
terboard, resulting in multiple fragmented foreign bodies in
both sides of the chest
Bronchography has no significant role to play,
unless it is as a preoperative procedure for planning
resection of a lobe for bronchiectasis. It should be
combined with rigid or flexible bronchoscopy. High-
resolution CT is a less invasive method of determin-
ing the extent of any bronchiectasis following foreign
body retrieval.
CT imaging is more usually reserved for imaging
the complications due to a foreign body, e.g. retro-
pharyngeal or mediastinal abscesses and collections,
or for identifying the late pulmonary effects follow-
ing foreign body inhalation, peripheral migration of
a foreign body or bronchiectasis (BERGER et al.I980).
Ultrafast "cine" CT has been used to assess dynamics
of the paediatric airway (BRODY et al.l991),and mul-
tislice CT scanners may allow rapid imaging of the
airway without the need for sedation. Small children
may find CT scanning frightening. Airway manage-
ment by the anaesthetists is a prerequisite, and gen-
eral anaesthesia with intubation is much safer than
sedation in the radiology department if there is any
suggestion of airway compromise. The use of "CT
bronchoscopy" or 3D reconstruction needs further
evaluation in paediatrics.
Although MRI has been used to demonstrate some
foreign bodies (e.g. nuts, with a high fat content) in
the bronchus in adults (KAVANAGH et al. 1999), it is
233
even less appropriate than CT in paediatric airway
obstruction because of the risk of airway obstruc-
tion in the relatively hostile environment of the MRI
machine.
17.1.4
Radiological Presentation
The presenting features on a radiograph may be
as diverse as the clinical presentation, and may
be mimicked by many other respiratory diseases
(Table 17.2). The chest film is normal in up to 25%
Table 17.2. Radiological presentation of an inhaled foreign
body
Opaque foreign body(s) seen in airway
Localised signs:
Reduction in pulmonary vascularity
Focal hyper-lucency
Mediastinal shift (inspiration/expiration films)
Lobar or segmental consolidation and/or collapse
Air leak:
Pneumothorax
Pneumomediastinum
On serial radiography:
Persistent consolidation
Migratory consolidation or collapse
of cases (SVEDSTROM et al. 1989). Persistent col-
lapse or consolidation not resolving on follow-up
radiography is a less common presentation (BROWN
et al. 1963; CATANEO et al. 1997). Obstructive
emphysema is seen in two-thirds of abnormal films
(BLAZER et al. 1980; MOAZAM et al. 1983) and
on inspiration/expiration films. Localised hyperlu-
cency and oligaemia may be seen on chest radio-
graphs in one-third of children, even when there
is no evidence of mediastinal shift on expiration
(BURTON et al. 1996). This is probably due to auto-
regulation within the lung, where there is redistri-
bution of blood away from the lobe that has reduced
gas exchange due to a foreign body in the lobar
bronchus. Pneumothorax or pneumomediastinum
is a less common presenting feature (Fig. 17.7)
(BURTON et al.I989). In the minority of cases (10%)
the foreign body may be seen on the chest radio-
graph (BROWN et al. 1963).
234 A. Sprigg

17.1.5
Radio-opacity of a Foreign Body

Not every foreign body is radiopaque (Table 17.3).

A commonly inhaled foreign body such as a peanut
or small plastic toy is not radio-opaque and may be
only detected by indirect signs on a chest radiograph.
Failure to consider the possibility of an inhaled for-
eign body may delay the diagnosis.

Table 17.3. Factors affecting the visibility of an inhaled

foreign body

Clinical suspicion
Radio-opacity of foreign body/bodies:
Inherent radio-opacity
Relative radio-opacity
Interpretation variables
Radiographic factors

17.1.5.1
Inherent Radio-opacity
Fig. 17.8. Foreign bodies in airway and gut. Chest radiograph.
It is often difficult to determine exactly what the child There are multiple staples in the stomach, and a single inhaled
has ingested or inhaled. The clinical history may only staple in the right bronchus
indicate choking or stridor. A densely opaque foreign
body such as a tooth, screw, nail, tin-tack or staple(s)
(Fig. 17.8) should be seen on standard radiography.
Teeth may be inhaled during fights, dental surgery
or during anaesthesia. A less opaque foreign body,
including one made of metal foil (Fig. 17.9), copper
or aluminium, or a thin object such as a small pin,
aluminium can ring-pull tab (Fig. 17.4) (ROGERS and
IGINI 1975) or eggshell (NAVEH et al. 1975), may not
be detectable on standard radiography.

17.1.5.2
Relative Radio-opacity
'foil' in trachea
If a faintly radio-opaque foreign body is seen pro-
jected across a clear airway, it may be detectable
radiographically. If it is projected over the spine
(dense bone) or mediastinum (dense soft tissue) it
may not be seen.

17.1.5.3
Observer Variability

There is considerable inter- and intra-observer varia- Fig. 17.9. Upper tracheal foreign body. Wheezing followed a
tion in detecting an opaque foreign body (ELL et al. choking episode. The foil in a sweet wrapper is seen in the
1996). Factors include experience, lighting conditions trachea
Foreign Bodies and Trauma 235

and clinical suspicion. When there is a possibility

of inhaled foreign body, the trachea should be care-
fully reviewed from the level of the larynx through
the major bronchi into the periphery of the lungs.
Radiographs are best viewed on a viewing box in a Ad
darkened room, since holding them up to the room
lights, or a convenient window in the ward, results in
sub-optimal visualisation and diagnosis!

17.1.5.4
Radiographic Factors

A high-kV technique with added filtration is used for

films of the trachea and upper airway. A lower-kV tech-
nique is used for lateral soft tissue views of the neck and
post-nasal space (Fig. 17.10) to maximise differences in
contrast of adjacent soft tissues and inherent contrast
in the foreign body (McARTHUR and TAYLOR 1975).
The optimum film and screen speed combination is
debatable. There is a compromise between good detail
(slow film and longer exposure time) and minimising
movement blur (fast film with fine detail). The expe-
rience of the radiographer in paediatric radiography
is vital to obtaining a good-quality film on the first
attempt, in a child who is in most cases distressed.

17.1.6
Identifying the Site of the Foreign Body

17.1.6.1 Fig. 17.10. Normal soft tissues of neck. Age 5 years. Ad Ade-
Foreign Body in the Trachea Versus the noids, T tonsils, H body of hyoid, GC greater cornu of hyoid,
Oesophagus L laryngeal ventricle, Ar aryepiglottic folds, Tr trachea, S soft
palate, E epiglottis. The width of normal pre-vertebral soft
tissue above the level of the larynx should not exceed half
When an opaque foreign body is seen in the upper a vertebral diameter in extension. Normal pre-vertebral soft
mediastinum or neck, it is sometimes not clear tissues below the level of the larynx should not exceed one
whether it is in the oesophagus or the trachea. If vertebral diameter, and should decrease in width in the lower
the diameter of the foreign body is larger than the neck towards C7
trachea on a chest radiograph, then it cannot be
inside the trachea and is usually in the oesophagus
(Fig.17.11) (Chap. 22). If a foreign body smaller
than the diameter of the trachea is seen in the upper
airway on a frontal film, a lateral film should always
be taken to determine whether it is in the proximal
oesophagus or the proximal trachea (Fig. 17.12).

Fig. 17.11. Tracheal versus oesophageal foreign body. Chest

radiograph. The coin is wider than the trachea, and is therefore
in the upper oesophagus, not in the airway
 236 A. Sprigg

a b
Fig.17.12a, b. Tracheal versus oesophageal foreign body. a PA chest radiograph shows a tin tack in the neck, similar in size to
the trachea. b A lateral view shows the tack in is the upper oesophagus, not the trachea

17.1.6.2
Foreign Body in the Post-nasal Space and Upper
Airway

The child may present with pain on swallowing,

refusal to feed, nasal discharge or stridor, according
to the location of the foreign body (PYMAN 1971;
ESCLAMADO and RICHARDSON 1987). It is often visible
to direct inspection in a co-operative child. A foreign
body that straddles the larynx is potentially hazard-
ous as it may cause complete airway occlusion without
warning (Fig. 17.13). Occasionally a foreign body may
be found in the airway in suspected infanticide.
Children have large tonsils, and this is a common
site for foreign body impaction (Fig. 17.14). Bones
from meat or fish may be seen on radiographs, but
vary according to the calcification of the cartilage
and the sort of fish or meat involved. Cartilaginous
animal "bones" many be difficult to see on laryngos-
copy but may be identifiable on radiography (ELL
and SPRIGG 1991). Penetrating injuries to the phar-
ynx and larynx are discussed elsewhere (Chap. 22).
Ossification in the thyroid and cricoid cartilages is
rare before 25 years of age. It starts in the thyroid
cartilage and appears later in the cricoid cartilage
(WILLIAMS and WARWICK 1980a). It should not cause
Fig. 17.13. Foreign body straddling the glottis. A swallowed
confusion with an opaque foreign body in children. coin in the hypopharynx is too large to enter the oesophagus.
Calcification may occur in nodes in the neck in older Because of its size and position there is a risk of laryngeal
children and may simulate an opaque foreign body. occlusion
Foreign Bodies and Trauma
Fig. 17.14. Post-nasal space (PNS) view. A radio-opaque fish-
bone is seen in the enlarged tonsil (arrow)
17.1.6.3
Tracheobronchial Foreign Body
The presentation is very variable, with wheeze, cough,
recurrent or persistent pneumonia and lobar col-
lapse. A good clinical history of aspiration or a chok-
ing episode will be revealed in the majority of chil-
dren with an inhaled foreign body, if it is specifically
sought (BLAZER et al. 1980; BURTON et al. 1996). The
child may present to the family physician, accident
and emergency department, general paediatrician
or the ear, nose and throat service. Specific ques-
tions about inhalation and choking episodes should
be included in the history of children with cough,
wheezing or stridor.
Signs on the chest radiograph are variable. It may
be completely normal with an inhaled foreign body
in the trachea or either bronchus. Common sugges-
tive features are listed in Table 17.2.
The right main bronchus has a more vertical
course than the left (horizontal) (Fig. 17.15). A for-
eign body is usually found in the right or left main
bronchus rather than the trachea. A foreign body
237
most commonly lodges in the right main bronchus
but it may lodge in any bronchus, right, left or periph-
eral, depending on the position of the child when it
is inhaled (lower airway location: tracheal 4%, right
bronchus 49%, left 44%; BLACK et al. 1994). The anat-
omy of the major bronchi is asymmetrical. On the
right side, if a foreign body lodges in the bronchus
intermedius it will cause middle and lower lobe col-
lapse or consolidation, whereas a foreign body lodged
in the left upper lobe bronchus causes left upper and
lingular lobe collapse or consolidation (Fig. 17.16).
A foreign body may change in position with cough-
ing and move from bronchus to bronchus, causing
variable symptoms and signs on clinical examination
and radiography (Fig. 17.17). Foreign bodies are also
found in multiple sites within or outside the airway
(Fig. 17.8) (BURRINGTON and COTTON 1972).
A foreign body is most commonly of food or veg-
etable origin. Inhaled peanuts and other nuts and
seeds account for over half of all inhaled foreign
bodies (BROWN et al. 1963; BLAZER et al. 1980). The
diagnosis may be delayed by weeks or months if
an appropriate history is not obtained. Bronchial
damage may occur, especially with vegetable matter
and nuts that provoke a granulomatous reaction
in the bronchus (arachidic bronchitis) (FRIEDMAN
2000),and swell or fragment into the peripheral bron-
chi. Bronchial stenosis or bronchiectasis may occur.
The radiographic presentation can be confused
with that of other conditions that cause bronchial
Fig.17.15. Normal bronchogram (rotated to the left). The
normal right main bronchus is vertically oriented to the tra-
chea compared to the more horizontal left main bronchus. The
right middle and lower lobe bronchi arise off the bronchus
intermedius, below the origin of the right upper lobe bron-
chus
238
Fig. 17.16. Left upper lobe and lingular collapse caused by a
peanut in the upper lobe bronchus. On fluoroscopy, whilst the
child was crying, the mediastinum shifted to the right in expi-
ration
Fig.17.17a, b. Migratory foreign body. Chest radiographs
2 months apart. a The first film shows mediastinal shift to the
left with patchy left lower lobe consolidation. b The second
film shows right middle and lower lobe collapse. The foreign
body had migrated between bronchi
A. Sprigg
Fig. 17.18. Peripheral foreign body. Chest radiograph shows
peripheral consolidation in the right lower lobe. The child's
mouth had been filled with grass by friends the previous
summer. Inhaled hairy "Timothy grass" (Phleum pratense)
gradually migrated to a peripheral bronchus causing infection
behind the grass, confirmed at lobectomy
narrowing leading to collapse and consolidation, e.g.
asthma with mucous plugging of the bronchi or with
clinical features to suggest bronchiectasis. A periph-
eral foreign body may cause peripheral consolida-
tion mimicking a pulmonary tumour (Fig. 17.18).
The final diagnosis is often made at bronchotomy or
lobectomy, as the foreign body is usually beyond the
reach of the bronchoscope.
The threshold for proceeding to bronchoscopy
varies between clinicians and according to the
strength of the history. Bronchoscopy should only
be performed by an experienced team, including
the anaesthetist, in a well-prepared operating the-
atre environment. Considerable expertise is required
to retrieve foreign bodies from the trachea or major
airway, especially if they are friable (e.g. peanuts or
vegetable matter) (BAHARLOO et al. 1999) or smooth
(e.g. a ball bearing).
17.1.7
Bronchoscopy and its Complications
Bronchoscopy should be the first investigation if
there is a good history of foreign body inhalation
(O'NEILL et al. 1983). Even in acute airway compro-
Foreign Bodies and Trauma 239

mise, adequate preparation is essential with an expe- 17.1.8

rienced bronchoscopist and an experienced anaes- Anaesthetic Aspects of Foreign Bodies
thetist. Deaths are still recorded during bronchoscopy
for retrieval of a foreign body. The number of cases an 17.1.8.1
individual surgeon will see in training, even in large Endotracheal Tube
centres, are few (SVEDSTROM et al. 1989; HUGHES
et al. 1996). A bronchoscopy team needs to be estab- Endotracheal intubation is frequently used both in
lished, with good instruments, experienced anaes- the operating theatre and in the intensive care situa-
thetic support and full monitoring and resuscitation tion and during resuscitation. The right main bron-
facilities (HIGHT et al. 1981). The "airway service" chus has a more vertical course to the trachea than
may be managed by any combination of anaesthe- the left (Fig. 17.15). Endotracheal tube misplace-
tists, intensivists, respiratory paediatricians, paediat- ment into the right main bronchus will occlude the
ric surgeons or ear-nose-throat surgeons. If the for- left main bronchus, reducing the capacity for gas
eign body is in the distal airway, beyond the reach of exchange by 50% (Fig. 17.20). The best position for
the rigid bronchoscope, thoracotomy may be neces- an endotracheal tube tip (identified by the end of the
sary (CAMPBELL et al. 1982). radiopaque marker) is more than 1 cm proximal to
Complications occur in up to 6% of all bron- the carina but below the level of the clavicles. The
choscopies (STEEN and ZIMMERMANN 1990), with a position of the carina is found by following the course
higher incidence when the foreign body has been in of the left and right main bronchi on a chest radio-
situ for a long time or when the bronchoscopy team graph back to the point where they unite. Tube mis-
is inexperienced. placement should be evident on auscultation, but is
A relatively inert foreign body such as a screw in a occasionally only noticed radiographically.
bronchus does not usually cause long-term problems
unless it has been embedded for some time or there is
mucosal damage on retrieval. Vegetable matter or oily 17.1.8.2
peanuts may produce profound granulation reaction Teeth
in the bronchus, leading to bronchial occlusion or
stenosis with bronchiectasis. If a soft foreign body Besides displacement of the endotracheal tube, loose
has been in the bronchus for some time, during bron- deciduous teeth or dislodged tooth caps or dental
choscopy it may fragment and embolise into small crowns may be inhaled during intubation (Fig. 17.21).
bronchial branches beyond the reach of the broncho- Teeth are usually well seen within the trachea or
scope, causing subsegmental collapse. The longer a bronchi, as they are densely opaque.
foreign body remains undiagnosed, the greater the
complication rate at bronchoscopy. Pneumomedias-
tinum and pneumothorax are recognised complica-
tions during and after bronchoscopy.
Following bronchoscopy all children should be
monitored in a high-dependency or intensive care
environment in case there is late oedema and lobar
collapse (Fig. 17.19). Repeat bronchoscopy may be
needed. Although bronchoscopy will detect a foreign
body on most occasions if it is present, there is a
small but significant false negative rate - up to 10%
in some series (OGUZKAYA et al. 1998). Inhaled for-
eign bodies may be multiple and repeat bronchos-
copy may be needed to detect the second or third for-
eign body, missed on the first bronchoscopy.

Fig. 17.19. Post-bronchoscopy problems. Chest radiograph

whilst the patient is intubated shows collapse of the left lung
following removal of a peanut in the left upper lobe bronchus.
Repeat bronchoscopy showed bronchial oedema and excluded
a second foreign body
240 A. Sprigg

to avoid this, it is usual practice in small children to

ensure there is a small air leak from the trachea after
intubation. Prolonged ventilation and repeated intu-
bation predispose to tracheal stenosis. CT is useful in
assessing the extent of the stenosis (GRISCOM 1991).
In children requiring prolonged ventilation, an elec-
tive tracheostomy is used to provide better airway
management and avoid the complications of pro-
longed endotracheal intubation (Fig. 17.22). In small
children, if the tracheostomy tube is too long it may
enter the right main bronchus, occluding the left
main bronchus.

Fig. 17.20. Misplaced endotracheal tube in the right main

bronchus in a ventilated neonate. The left lung has not yet
collapsed. (Courtesy of Dr. R.A. Primhak, Sheffield)

Fig. 17.21. Tooth inhalation during intubation for GA. The

endotracheal tube is in good position just above the carina.
There is volume loss in the right hemi-thorax and over-expan-
sion in the left, but no pneumothorax. An inhaled tooth is seen
to the left of the tube (arrow)

17.1.8.3
Tracheal Stenosis

Prolonged intubation may lead to subglottic or tra-

cheal stenosis (SPITTLE and MCCLUSKEY 2000). This
is more likely to occur when a cuffed or shouldered
tube is used. The infantile trachea has a high carti-
lage component and is prone to vascular compromise
when cuffed or tight-fitting tubes are used. To try
Fig. 17.22. Tracheal stenosis. This short tracheal stricture was
due to prolonged neonatal intubation. The length and site may
vary
Foreign Bodies and Trauma 241

17.2
Neck and Upper Airway Trauma

Neck trauma is uncommon in the paediatric popula-

tion. In adults neck injuries are commonly caused
by industrial or road traffic accidents, hanging or
laceration.

17.2.1
Penetrating Injury

The immediate management of penetrating neck

injury due to stabbing or glass laceration is to
gain control of the airway and control haemorrhage
(COOPER et al. 1987). The apex of the lung is closely
related to the root of the neck and clavicle, and
penetrating injury may be complicated by a tension
pneumothorax needing urgent drainage. Radiogra-
phy may then be used to assess the extent of the injury
or to demonstrate retained foreign bodies. Gun shot
wounds or air gun pellets are less frequent foreign
bodies. Fragments can be located by good-quality AP
and lateral radiographs. If the relation of the foreign
body to the major vessels has to be determined prior
to exploration, ultrasound or contrast-enhanced CT
may be used. In cases of glass or knife injury, con-
Fig. 17.23. Post nasal space. Pre-vertebral emphysema due to
trast-enhanced spiral CT may be used to define the
a penetrating injury with scissors
extent of injury, if the child is in a stable condition.
Entry wounds on the skin are often deceptively small
in relation to the amount of damage sustained by It should be noted that the central "lead" part of a
deeper structures. In cases of penetrating injury pencil is graphite (carbon), not the metal lead (Pb),
angiography may be needed to determine the extent and will not normally be detectable on radiography.
of injury to the carotid or vertebral arteries. Venous Any trauma to the neck, blunt or penetrating, may
air embolism is a complication of neck laceration. be complicated by spinal injury. Radiography of the
Crawling children, or older children near unfamil- cervical spine, supplemented by CT or MRI as appro-
iar dogs, are prone to dog bite injury to the face. Car- priate, should be performed.
nivorous animals also tend to bite at the neck, as this
is the commonest way of killing their prey in the
wild. Retained animal teeth may be seen on radio- 17.2.2
graphs. Bites may penetrate vital structures in the Blunt Trauma
neck, including vessels, bone or spinal canal, airway
or oesophagus. Blunt trauma is uncommon in paediatrics (FORD et
Many children put objects in their mouth and then al. 1995). In small children the larynx is relatively
fall over or run into things. Common injuries include high in the neck and is protected by the mandible
perforation by pencils, scissors or other sharp objects (DUNBAR and KRAMER 1981). The most frequent
put in the mouth (Fig. 17.23). Cranial displacement of causes are riding accidents, from bicycle, horse or a
objects may go through the sinuses into the brain and motorbike, ski or sled, if the rider goes into a fixed
region of the circle of Willis and pituitary. More object, e.g. clothes line or tree branch, and sustains an
commonly, pharyngeal injury occurs, which may injury across the larynx. Injuries due to diagonal seat
cause prevertebral emphysema or lead to complica- belts are uncommon, but lacerations due to being
tions including retropharyngeal abscesses (Fig. 17.24) ejected through a windscreen in unrestrained pas-
(Chap. 18). A retained foreign body is uncommon. sengers may be fatal.
242
Fig. 17.23. Penetrating injury with a pencil to the pharynx.
Pre-vertebral soft tissue swelling was due to a retropharyngeal
abscess. (No visible gas or opaque foreign body)
The paediatric larynx is predominantly cartilagi-
nous, and will stretch or bend causing avulsion injury
to the vocal cords, arytenoid cartilages and mucosa.
Soft tissue injury to pharynx and larynx may only
be visible on direct inspection or endoscopy (MYER
et a1. 1987). Vocal cord paralysis is rare, but may
be caused by local damage or nerve damage higher
in the neck. Ultrasound scanning has been used to
assess movement of the vocal cords and to look for
vocal cord paralysis. This is a non-invasive method
of imaging, but equally good results may be obtained
by indirect laryngoscopy in a co-operative child. Sub-
cutaneous emphysema may be seen with laryngeal
damage or tracheal rupture or oesophageal involve-
ment.
Fracture of the hyoid bone is uncommon in small
children but may occur due to strangulation or major
direct trauma resulting in acute airway compromise.
Neck and laryngeal injuries may occur in the teen-
age population by accidental or intentional attempts
at hanging. Fracture of the hyoid bone is rare.
A. Sprigg
The hyoid bone develops in cartilage, the lesser
cornu and upper body of the hyoid bone arising from
the second branchial arch, whilst the lower body and
greater cornu arise from the third branchial arch
(WILLIAMS and WARWICK 1980b). Ossification com-
mences in the greater cornu towards the end of intra-
uterine life, in the body of the hyoid before or shortly
after birth, and in the lesser cornu around puberty.
The ossific centre in the body may be paired, simu-
lating a fracture. There are normal gaps in the hyoid
bone between the body and greater cornu, which only
fuse in teenage years. These may also simulate frac-
tures (KEATS 1996), and show considerable variation
between individual children (Figs. 17.10, 17.12, 17.14,
17.22,17.23).
In neck trauma or hanging, laryngeal trauma may
be accompanied by cervical spine injury. If a child
has an acute airway obstruction due to neck trauma,
it is easy to overlook the cervical spine and cord
injury whilst concentrating on airway management.
Once the child is intubated and ventilated the neck
injury may not become apparent until irreversible
neurological damage has occurred. When there is
a history of significant trauma, cervical spine films
should be requested, including the craniocervical
junction, as well as the airway.
17.2.3
Tracheal and Bronchial Injury
Injury to the trachea and/or bronchi is an occasional
complication of major trauma. Tracheal, bronchial or
laryngeal disruption may occur and present with a
tension pneumothorax or subcutaneous emphysema
and respiratory compromise which is clinically evi-
dent. Occasionally the damage to the airway does not
cause complete avulsion of the bronchus, but causes
a partial avulsion, leaving the endobronchial surface
intact. This may not be evident on bronchoscopy. Fur-
ther vascular compromise to the mucosa may result
in delayed presentation of bronchial avulsion several
days after the original trauma. Persistent late lobar
collapse, possibly complicated by pneumothorax, is
suggestive (Fig. 17.25). Bronchoscopy may be neg-
ative. Thoracotomy may be necessary, and recent
advances in thoracic surgery may allow bronchial re-
anastomosis rather than lobar resection to be per-
formed.
Foreign Bodies and Trauma
Fig. 17.25. Bronchial avulsion - delayed presentation. Chest
radiograph 7 days after major trauma shows a tension pneu-
mothorax on the right. This persisted after a chest drain was
placed. At bronchoscopy there was oedema of the right main
bronchus, but no tear was seen. Thoracotomy showed a com-
plete tear of the right main bronchus. Note also the fracture
of the right clavicle
Acknowledgements. I would like to thank Prof. P.
Vanezis, forensic pathologist of Glasgow, and Mr P.B.
Bull ,Consultant in paediatric ENT surgery, Sheffield,
for useful comments towards this chapter.
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18 Inflammatory Lesions of the Neck and Airways
W. C. W. CHU and C. METREWELI
CONTENTS
18.1 Introduction 245
18.2 Neck 245
18.2.1 Tonsillitis 245
18.2.2 Retropharyngeal Space Infection 246
18.2.3. Non-infectious Cervical Adenitis 247
18.2.4 Infectious Cervical Adenitis 248
18.2.5 Inflammatory Thyroid Disorders 251
18.2.5.1 Congenital Piriform Sinus Fistula
and Acute Suppurative Thyroiditis 251
18.2.5.2 Subacute Non-suppurative Thyroiditis
(de Quervain's Thyroiditis) 251
18.2.5.3 Chronic Lymphocytic Thyroiditis
(Hashimoto's Thyroiditis) 252
18.2.5.4 Other Non-thyroidal Disorders
Mimicking Thyroiditis 253
18.3 Airway 254
18.3.1 Acute Epiglottitis 254
18.3.2 Croup 254
18.4 Other: Grisel's Syndrome (Non-traumatic
Subluxation of the Atlantoaxial Joint) 254
References 255
18.1
Introduction
There has been a dramatic rise in the quantity
of imaging dedicated to the head and neck since
the advent of high-resolution ultrasonography (US),
computed tomography (CT) and magnetic resonance
imaging (MRI).
CT has the obvious advantages of speed and wide
coverage with good overall anatomical demonstra-
tion, but at the cost of irradiation risk; MRI has the
ability to differentiate soft tissues better than CT, but
w. c. W. CHU, MD
Department of Diagnostic Radiology & Organ Imaging, Fac-
ulty of Medicine, Prince of Wales Hospital, The Chinese Uni-
versity of Hong Kong, Shatin, N.T., Hong Kong
C. METREWELI
Professor, Department of Diagnostic Radiology & Organ
Imaging, Faculty of Medicine, Prince of Wales Hospital, The
Chinese University of Hong Kong, Shatin, N.T., Hong Kong
slowness and the need for sedation preclude its ease
of application; while US has the advantages of easy
rapid application, high resolution, and lack of radia-
tion, but is of limited use in imaging deeper patholo-
gies or children with tender, painful lesions.
The choice of modality is therefore determined by
the same factors that apply in paediatric imaging in
general, and by the availability of local expertise. In
this chapter we have tried to recognise this fact and,
although we would always advocate the use of US as
the first choice in most problems, we have tried to
give the broader view of the contribution of other
modalities.
18.2
Neck
18.2.1
Tonsillitis
Tonsillitis is a common paediatric infection. In most
cases it will respond to antibiotics, but when the con-
dition becomes uncontrolled there may be a tonsillar
abscess, extratonsillar spread, and extension into the
retro- and parapharyngeal spaces (WILLIAMS 1997).
The resultat may compromise the airway oedema.
When there is a clinical suspicion of any of the
above complications CT is the method of choice to
establish the extent of disease (Fig. 18.1) as the clini-
cal diagnosis is not as reliable as CT or US (SCOTT et
al. 1999).
Contrast-enhanced CT is helpful in revealing a
tonsillar abscess if there are areas of hypodensity.
The abscess is characterised by rim enhancement
and avascularity of the necrotic centre. The presence
of gas on the unenhanced scan is diagnostic.
US is unable to reveal deep retropharyngeal infec-
tion adequately but may be used for aspiration guid-
ance where CT suggests there is an accessible pocket.
If a small probe, e.g. of the transvaginal type is avail-
able, US can distinguish tonsillar inflammation from
246
Fig. 18.1. CT of right-sided peritonsillar cellulitis. Note how the
oedematous tissues encroach upon and distort the orophar-
ynx, the thickening of the subcutaneous fascia, and increased
density of the subfascial fat. There is no abscess formation
tonsillar infection (SCOTT et al. 1999). However, small
children are unlikely to cooperate with the examina-
tion, and hence CT is a better modality (GINSBERG
1997).
US is useful in situations where suppurative adeni-
tis is suspected on CT as a result of central hypoden-
sity with ring enhancement (GLASIER et al. 1992),
because it is better able to distinguish phlegmonous
changes from necrotic pus.
18.2.2
Retropharyngeal Space Infection
The retropharyngeal space lies posterior to the vis-
ceral fascia (middle layer of the deep cervical fascia)
posterior to the pharynx, and is limited posteriorly
by the prevertebral fascia (deep cervical fascia). The
potential space between these two layers extends
from the skull base to the mediastinum (WILLIAMS
1997). Any uncontrolled infection gaining access to
this space can therefore track up to the skull base
and/or down to the mediastinum.
A child presenting with fever, dysphagia, neck
stiffness, leucocytosis and neck swelling may have
either cellulitis or an abscess (NAGY and BACKSTROM
1999), or, occasionally, a foreign body. The former
w. c. w. Chu and C. Metreweli
can be treated with antibiotics but the last two need
active intervention. Imaging is essential in determin-
ing treatment.
In the past, radiography was used extensively in
cases of suspected retropharyngeal inflammation.
The radiographic signs are: presence of prevertebral
soft tissue thickening, loss of cervical lordosis and
tissue gas. However, plain radiographs are a very
poor investigation. Tissue gas is not always present,
and even when it is present, plain radiographs are
not as sensitive as CT for this sign. Loss of cervical
lordosis is non-specific. Diagnosis of thickening of
the prevertebral tissues is fraught with problems.
Positioning, respiratory motion, crying and swal-
lowing can result in an appearance of enlargement
of the prevertebral tissues. For these reasons fluo-
roscopy has been advocated to "catch" the "thinnest"
moment.
Even when the best films are obtained there is
the problem of determining what constitutes thick-
ening. Various techniques have been advocated: for
instance, the anteroposterior (AP) diameter of the
soft tissue should be 4-7 mm anterior to C2 and 14
mm or less anterior to C6.
In expert hands techniques based on radiographs
only reach a sensitivity of 83%, whereas CT with con-
trast achieves 100% (NAGY and BACKSTROM 1999).
Furthermore, fish-bone perforation is poorly diag-
nosed by radiographs (EVANS et al.1992); CT is much
more reliable (LUE et al. 2000).
As this is a potentially fatal condition CT should
always be the technique of choice whenever it is avail-
able.
Computed Tomography. CT with contrast is the inves-
tigation of choice. The diagnosis of deep neck cel-
lulitis is made when there is an increase of soft
tissue density, accompanied by increased heteroge-
neous density in the surrounding parapharyngeal fat
spaces, often seen as "stranding" (Fig. 18.2) and some-
times even obliteration of the fat. There may be thick-
ening of the overlying skin.
An abscess will show contrast ring enhancement,
which may be multilocular. Homogeneous thickening
without ring enhancement indicates oedema with-
out abscess. Sometimes gas may be present; however,
this may also result from perforation (Figs. 18.3 and
18.4).
The location of the infection affects the distribu-
tion of the inflammatory changes (SHANKAR et al.
1998). In the suprahyoid region the retropharyngeal
lymph nodes may be involved, and this may even
lead to suppurative lymphadenopathy. The distribu-
Inflammatory Lesions of the Neck and Airways
Fig. 18.2. CT of the left submandibular region demonstrating
inflammatory thickening of the subcutaneous fascia (» and
stranding of the subcutaneous fat (/\), in this case from a sub-
mandibular sialadenitis (5)
Fig. 18.3. CT of a retropharyngeal abscess following retro-
oesophageal perforation by a fish bone. This section is just
suprahyoid and the gas-filled abscess can extend laterally
tion may be unilateral (Fig. 18.3) or bilateral, but
the middle retropharyngeal space is spared. In the
infrahyoid region the distribution involves the retro-
pharyngeal space, giving anything from an oval (Fig.
18.4) to a "bow tie" configuration, and the cervical
lymph nodes may be uninvolved.
CT will also reveal the origins of the infection and
complications such as airway encroachment, medias-
tinal extension, intracranial extension, carotid artery
247
inflammation, aneurysm and rupture, internal jugu-
lar vein thrombosis and osteomyelitis.
The relative position of the great vessels is valuable
information to the surgeons. If there is an abscess
medial to the vessels, an intraoral approach is indi-
cated. Abscess lateral to the vessels would be man-
aged by an external approach (CHOI et al. 1997).
Ultrasonography. US plays a role in the diagnosis and
management of neck infections but cannot be relied
upon if the deeper parts of the abnormality, cellulitis
or abscess are not demonstrable, in which case CT
is indicated.
The presence of drainable pus and its location and
relation to critical structures, especially the blood
vessels, can be identified by US (QURAISHI et al.
1997), and this can be useful information to guide
intervention or surgery.
18.2.3
Non-infectious Cervical Adenitis
Non-infectious cervical adenitis in the paediatric age
group is uncommon but can be seen in systemic
lupus erythematosus. This is most common in teen-
age girls, in whom there may be found multiple
enlarged cervical nodes. These are most commonly
bilateral but asymmetrical, involving the carotid
chain, with the larger nodes superiorly. These nodes
tend to have a peripheral increase in vascularity as
Fig. 18.4. CT of the same patient as Fig. 18.3. This section is
infrahyoid. Note the restriction to a central location, and the
proximity of the common carotid arteries
248 w. C. W. Chu and C. Metreweli

seen on colour Doppler US, and may raise concerns

about tuberculous superinfection. However, tuber-
culous lymphadenopathy lies more posteriorly and
lower in the posterior triangle. Before diagnostic
frank calcification and necrosis are present, tuber-
culous nodes also have peripheral vascularity and
avascular prenecrotic areas. Pulsed-wave Doppler US
is particularly helpful here; tuberculous nodes have
resistance indices greater than 0.9, whereas the resis-
tance indices of SLE nodes tend to be around 0.6 or
less.

18.2.4
Infectious Cervical Adenitis

In children enlarged cervical nodes are most com-

monly the result of infection. Enlargement due to
malignancy is rare, unlike the situation in adults. Fig. 18.5. US near-transverse section of the left neck. A normal
Children's neck lymph nodes are usually much jugulodigastric lymph node. Note the large dimensions of the
larger and greater in number than those in adults, node (the longitudinal diameter is often even greater), the
hypoechoic cortex (to.) and the relatively hyperechoic medulla
and much larger than those in the rest of the body. (*)
The jugulodigastric nodes (Fig. 18.5) are usually the
largest, measuring up to 2.5x1.5xl.O cm in normal
children. The rest of the neck can also have prom-
inent nodes (Fig. 18.6). They tend to be bilaterally
symmetrical. Note that measurements by CT tend to
be smaller than those made on US.

Ultrasonography. Throughout childhood, new infec-

tious agents are encountered every day. The oro-
pharynx is the first portal of entry for many organ-
isms and the nodes are in a perpetual reactive state.
For this reason, not only are the nodes enlarged,
but with US it is possible to distinguish the inter-
nal structure: hypertrophied germinal cortex, which
is hypoechoic, and medullary lymphoid, which is
relatively hyperechoic (Fig. 18.5). These are never so
well seen in other age groups and must not be mis- Fig. 18.6. US transverse section of the lower neck. Normal
taken for any abnormal heterogeneity. The med- lymph nodes behind the lower sternomastoid muscle (SM).
Note the small size of the bright hilar line (to.)
ullary lymphoid likewise must not be confused
with perihilar fat, which is relatively sparse in neck
nodes.
Intraparotid nodes are also common in children ation in adults, where US will find at least 30% more
and must not be mistaken for intraparotid pathol- abnormal nodes than are clinically palpable, may not
ogy. be the same in children, in whom it is easy to see
Neck lymph nodes in children usually show active 10-20 nodes in the neck normally, some of which will
vascularity (Fig. 18.7). be very vascular.
Although the cervical nodes are large, they are Abnormal inflamed nodes in a child are char-
often soft and not palpable, and palpable nodes are acterised by uniform hypoechogenicity, roundness,
not necessarily much larger than normal. Palpability increased vascularity relative to other nodes and
is most likely to be a change in texture of the node, increased echogenicity of the perinodal fat
abnormal nodes becoming firmer. So again, the situ- (Fig. 18.8).
Inflammatory Lesions of the Neck and Airways
Fig. 18.8. US. It is normal to see many nodes in the paediatric
age group. In this case the presence of increased perinodal
echogenicity, roundness of the nodes and uniform hypoecho-
genicity of the parenchyma indicate the presence of significant
infection
Areas of hypovascularity in an otherwise hyper-
vascular node suggest necrosis and impending lique-
faction.
Early liquefaction is characterised by a speckled
hyperechoic "snowstorm" or "starry sky" pattern
showing obvious fluid changes with the displace-
ment caused by gentle pressure on the transducer.
This appearance can be seen in both suppurative and
tuberculous necrosis (Fig. 18.9). Later the snowstorm
appearance gives way to characteristic hypoechoic
fluid US appearance. Rupture of the node, "collar
studding" and tracking are characteristic features of
tuberculosis (Fig. 18.10). Confluence also suggests
tuberculosis, and amorphous calcification is virtually
pathognomonic (Fig. 18.11).
249
Fig. 18.7. US longitudinal section of
the neck, showing the expected level of
vascularity in a normal neck node in
a child. Demonstrated here by power
Doppler imaging
Fig. 18.9. US of a node with early liquefactive necrosis show-
ing the "starry sky" appearance. Note the hypoechogenicity of
the remainder of the node and the rupture of the contents
through the capsule «)
The most useful thing the radiologist can do in
trying to establish a possible aetiology for enlarged
neck nodes is to search all other node-bearing areas
for further signs of lymphadenopathy. These are
obviously the contralateral neck, axillary, inguinal
region, porta hepatis and mesenteric nodes.
A more widespread lymphadenopathy is likely to
be due to viral infections such as infectious mono-
nucleosis, cytomegalovirus and varicella-zoster. Leu-
kaemias must also be considered in the differential
diagnosis here as well.
Asymmetric lymphadenopathy, sometimes affect-
ing more than one region, may be found with Bar-
tonella henselae (cat scratch fever) (GINSBERG 1997).
This may cause more marked lymphadenopathy in
250
Fig. 18.10. US of an abscess in a tuberculous node. The pus is
now hypoechoic (*), and "collar studding" into deeper tissue
planes «)
Fig. 18.11. US of a lymph node virtually replaced by early liq-
uefactive necrosis, leaving a thin rim of cortex (». The pres-
ence of calcification «) is virtually pathognomonic of tuber-
culosis
the axilla than in the neck. Only two-thirds of affected
patients may report being scratched by a cat, and the
diagnosis requires demonstration of the antigen in
the serum or the bacillus with Warthin-Starry stain-
ing of aspirated material.
Lymphadenopathy that is more restricted to a
single region is likely to be due to pyogenic bacteria:
staphylococci, streptococci, pseudomonas and myco-
w. c. W. Chu and C. Metreweli
bacteria, all of which are likely to cause suppurative
adenitis. It is unusual to find positive chest radio-
graph evidence of tuberculosis in these children, but
with experience the characteristic findings described
above are often diagnostic. Aspiration of necrotic
material and staining for acid-fast bacilli is often not
helpful with mycobacterial infections unless these
happen to be atypical mycobacteria, in which case
bacilli are frequently plentiful.
At the time of writing there is very little literature
on the distribution and characteristics oflymph node
inflammation of different aetiologies, and it is to
be anticipated that over the coming years more will
become available as radiologists become aware that
the nodes can be seen and reveal details that are
useful for differentiation.
CT and MRI. CT and MRI can be used to image
diseased cervical lymph nodes. Although they cannot
reveal as much diagnostic detail as US (Fig. 18.12)
they have the advantage in showing deeper nodes.
Normal retropharyngeal nodes can be demon-
strated in two-thirds of children, with CT and in 90%
with MRI. Lateral retropharyngeal lymph nodes are
more frequent than are the medial ones. Normal
retropharyngeal lymph nodes are round, homoge-
neous and hyperintense on T2-weighted images.
These nodes involute with age. The average size of ret-
ropharyngeallymph nodes in patients younger than
18 years of age averages 6.8 mm (range,2.1-12.0 mm).
Fig. 18.12. CT of peritonsillar cellulitis with enlarged jugu-
lodigastric «) and carotid sheath nodes (». Note the virtual
homogeneity of the node texture compared with US
Inflammatory Lesions of the Neck and Airways
In patients older than 18 years of age, they average 4.9
mm (range, 2.2-7.4 mm) (CASTILLO and MUKHERJI
1996).
Infection causes homogeneous enlargement and
increased enhancement of involved nodes. A low-
attenuation focus in a node may indicate necrosis or
liquefaction. US should help in identifying nodes that
may be successfully aspirated. Suppurative cervical
lymph nodes may be large and compress adjacent
structures. Patients with sepsis may require drain-
age guided by US or CT. Reticulation of the adjacent
fat seen on CT or the presence of a circumferential
enhancing rim may be indicative of inflammation
rather than metastasis.
The benefits of searching the rest of the body with
US for other areas of lymphadenopathy must not be
forgotten.
18.2.5
Inflammatory Thyroid Disorders
18.2.5.1
Congenital Piriform Sinus Fistula
and Acute Suppurative Thyroiditis
Congenital piriform sinus fistula (CPSF) is a rare
branchial pouch anomaly (CHOI and ZALZAL 1995);
it is usually left-sided and not always detected until
complications such as neck abscess or acute suppu-
rative thyroiditis, or even mediastinal abscess, have
resulted. If this occult fistula goes undetected, the
patient will often undergo long and frustrated recur-
rent episodes of infection from this sinus tract.
Common clinical features are recurrent painful left
lower neck swelling, fever and severe odynophagia
since early childhood (AHUJA et al. 1998).
Barium swallow was used for the first demonstration
of a CPSF in a 5-year-old male child (TUCKER and
SKOLNICK 1973). A careful search of the hypophar-
ynx was recommended for the presence of piriform
sinus fistula only when more children were noted to
suffer from acute suppurative thyroiditis and recur-
rent neck abscess of unknown origin (TAKAI et al.
1979).
The embryological origin of the piriform sinus
fistula remains controversial as remnants from third,
fourth or even fifth branchial pouch. The fistulous
tract can usually be demonstrated from the apex of
the left piriform sinus in the barium study. This is
consistent with the findings of direct microlaryngos-
copy, which usually identifies the internal orifice of
the CPSF at the apex of the left piriform sinus (LEE
251
1999). The course of the CPSF is variable: it can be
ventral to the thyroid gland or penetrate through
the parenchyma of the upper portion of the thyroid
gland and extend to the level of the clavicle. The
laryngeal exits of the CPSF also vary, from the crico-
thyroid junction to penetrating the thyroid cartilage
at the inferolateral margin.
CPSF has a distinct left-side predominance, right-
side CPSF is relatively uncommon by comparison
(GODIN et al. 1990).
The fistula itself does not cause any symptoms, but
the first sign of its presence is most often an infec-
tive process resulting in neonatal respiratory distress,
suppurative thyroiditis, mediastinal abscess or a cer-
vical fistula. These infections become recurrent if the
diagnosis is unsuspected. Most of them occur in the
paediatric age group and are extremely rare in adults.
Excision of the entire tract is the required treatment.
Imaging The radiological method of choice is a
barium swallow to demonstrate the otherwise occult
fistula track (Fig. 18.13). A CT contrast study is more
difficult to perform in a child than a barium swal-
low. Furthermore, there is the possibility of partial
volume artefact of barium in the oropharynx mask-
ing the contrast in the fistula.
We have found that the barium swallow can be
done in the acute phase, but SKUZA et al. (1991) rec-
ommend that it be done about 2 months after the
acute episode in case the oedematous tract obstructs
the passage of barium.
US is excellent at delineating the extent of inflam-
mation in the neck (Figs. 18.14 and 18.15), and in any
child presenting with a thyroid abscess, particularly
on the left side, the likelihood that this is due to a piri-
form fistula must not be forgotten.
18.2.5.2
Subacute Non-suppurative Thyroiditis
(de Quervain's Thyroiditis)
Subacute thyroiditis is also known as de Quervain's
thyroiditis, giant cell thyroiditis, pseudogranuloma-
tous thyroiditis, subacute painful thyroiditis and sub-
acute granulomatous thyroiditis. It is usually viral in
aetiology and often follows an upper respiratory tract
infection. Common viral causes include mumps, cox-
sackievirus, influenza virus, echovirus, and adenovi-
ruses. Clinically, subacute thyroiditis presents with
pain in the region of the thyroid, either gradual or
sudden in onset. There is often a viral prodrome,
including myalgia, low-grade fever, lassitude, sore
throat and, occasionally, dysphagia. The active phase
252
of this disease is associated with elevation of the
erythrocyte sedimentation rate. Thyrotoxicosis is
present in approximately 50% of patients in the
acute phase of subacute thyroiditis. Patients com-
plain of palpitations and nervousness, and have a
disproportionately elevated serum thyroxine (T 4 )
relative to serum triiodothyronine (T3) concentra-
tion. Serum TSH concentrations are low to unde-
tectable (FAREWELL and BRAVERMAN 1996). Char-
acteristically, the radioactive iodine uptake is low.
Thus, subacute thyroiditis falls into the category
of "low radioactive iodine uptake thyrotoxicosis."
Subacute thyroiditis can be distinguished from the
more rarely seen acute suppurative thyroiditis (Sect.
18.2.5.1 above) by the presence of the inflammatory
tract rising from the affected lobe (usually the
left one) in the latter condition. Scintigraphically,
the radioactive iodine uptake is usually normal in
acute suppurative thyroiditis, and the scan reveals
decreased uptake in the region of suppuration
(SZABO and ALLEN 1989).
Imaging. Besides the radioactive iodine imaging as
mentioned above, US is widely used in the diagnosis
and follow-up of subacute thyroiditis (TOKUDA et al.
1990). In the primary phase of subacute thyroiditis,
there is either diffuse or focal hypoechogenicity and
enlargement of thyroid lobes. Ultrasound findings
are not uniform. They are found to correlate with
the form and phase of the disease, which probably
w. c. w. Chu and C. Metreweli
Fig. 18.13. Barium swallow demon-
strating a congenital pyriform sinus
(1\). (Kindly supplied by Dr. Anil
Ahuja)
reflects the intensity of inflammation and oedema
seen in this disorder (RAJKOVACA et al. 1999). In
the remission phase, the hypoechoic areas usually
disappear completely, and permanent focal echo
abnormalities are unusual in subacute thyroiditis
(BRANDER 1992).
Doppler US also plays a role in the initial diag-
nosis and in monitoring the location and activity of
lesions in subacute thyroiditis. In the primary phase,
low echogenicity of the thyroid is observed without
increased tissue vascularity in the affected swollen
thyroid. This is in contrast to Graves' disease, where
the vascularity is markedly increased. In the recov-
ery stage, with the return of isoechogenicity of the
thyroid gland, there is a slight increase in vascularity,
which usually resolves after 1 year (HIROMATSU et al.
1999).
18.2.5.3
Chronic Lymphocytic Thyroiditis
(Hashimoto's Thyroiditis)
Chronic lymphocytic thyroiditis (Hashimoto's thy-
roiditis) is the most common cause of non-endemic
goitre and acquired hypothyroidism in children and
adolescents. Girls are more often affected than boys.
Hashimoto's thyroiditis is autoimmune in nature and
its hallmarks are high circulating titres of antibodies
to thyroid peroxidase (primarily) and thyroglobulin
(less often).
Inflammatory Lesions of the Neck and Airways
Fig. 18.14. US transverse section of the left neck showing a
pyriform sinus abscess (*), tracking down to the level of the
left lobe of the thyroid (A). C, left common carotid artery
Clinically, the vast majority of patients have a
painless goitre with insidious hypothyroidism (ROTH
et al. 1997). However, Hashimoto's thyroiditis may
occasionally present as an acutely painful swelling
of the neck (LEUNG and HEGDE 1988). This seems
to be more frequent in Eastern than Western popu-
lations. Presentation may be with euthyroid goitre,
goitre with hypothyroidism, or in the context of pre-
existing autoimmune disease. In less than 10% of
cases, but particularly at adolescence, presentation
may be with signs of thyrotoxicosis.
Imaging. US is the investigation of choice (IVARSSON
et al. 1989). Previous studies have shown that US
was more sensitive in detecting patients with autoim-
mune thyroid disease than antibody testing (PED-
ERSEN et al. 2000). With antibody determinations,
only 60%-90% of the patients with thyroiditis were
diagnosed, depending on the series.
The characteristic US appearance is a diffuse and
marked reduction in thyroid echogenicity, with fine
stromal lines running through the parenchyma. The
firmer texture gives the gland a more rounded shape.
Difficulties arise when the changes are focal or patchy,
and nodular. In such situations a nodule may be sus-
picious for malignancy. The presence of normal vas-
culature through the affected area may be reassuring.
253
Fig. 18.15. US transverse section of the right neck showing a
pyriform sinus abscess that has penetrated the fascia (> land
has entered the right lobe of the thyroid, where a small abscess
is already forming (A). A right-side sinus is rare. (Kindly sup-
plied by Dr. Ani! Ahuja)
Scintigraphic findings have been reported in
Hashimoto's thyroiditis, but the findings are highly
variable. Scintigraphic features include diffuse hyper-
plasia, multinodular goitre and solitary nodule
(YARMAN et al.I997). In patients with lobular or nod-
ular thyroid enlargement where diagnosis of Hashi-
moto's thyroiditis cannot be established by the pres-
ence of thyroid antibodies in serum, fine-needle
biopsy can be used to distinguish this disease from
thyroid adenoma or thyroid carcinoma. In the major-
ity of the cases, however, the diagnosis can be confi-
dently made by combined US and antibody determi-
nation (FANG et al. 1998).
18.2.5.4
Other Non-thyroidal Disorders
Mimicking Thyroiditis
Painful anterior neck masses are either infected thy-
roglossal duct cysts, branchial cleft cysts, infected
cystic hygromas or cervical adenitis (see Sect.i8.2A).
US, CT or MRI can distinguish these from the thy-
roid. Where there is still doubt, radionuclide imag-
ing may be helpful. Cystic abnormalities frequently
contain crystals and cellular debris. On US this can
be mistaken for pus (Fig. 18.16). When not accom-
panied by thickening of the wall, tense expansion
and regional lymph node activity, an infection is less
likely.
254
Fig. 18.16. US of a branchial cleft cyst. These cysts frequently
contain fine echoes from crystal and cellular debris, not to be
confused with pus. (Kindly supplied by Dr. Anil Ahuja)
When there is still doubt, US-guided aspiration is
indicated.
18.3
Airway
18.3.1
Acute Epiglottitis
Acute epiglottitis usually occurs at between 2 and 4
years of age. Newborns and infants are protected by
immunity to Haemophilus influenzae acquired from
the mother, but the child's immune system does not
produce similar antibodies until 3-4 years of age.
This may explain the high incidence of H. influenzae
infections between the ages of 2 and 4.
Acute epiglottitis is a clinical diagnosis. The child
typically sits upright, drooling with inspiratory stri-
dor. The onset of symptoms is acute. On examination,
the epiglottis is swollen and cherry-red in appear-
ance. The aryepiglottic folds are swollen and the
supraglottic airway is narrowed. Secretions are thick
and tenacious. Patients are prone to acute laryngo-
spasm and obstruction during forced inspiration.
Affected children require nasotracheal or orotracheal
intubation under anaesthesia. Tracheostomy is not
recommended.
Imaging. If imaging is deemed to be necessary, only
lateral radiographs of the neck should be performed
in patients suspected of having epiglottitis. Findings
on radiographs include a diffusely thickened epiglottis,
w. C. W. Chu and C. Metreweli
often two of three times the size of a normal one. CT
and MRI may be life-threatening because placing the
patient in a supine position further reduces the calibre
of the airway. Should these examinations be considered
necessary and the child has not been intubated, the
presence of an anaesthetist is a prudent precaution.
There may be dilatation of the oropharynx if the
supraglottic larynx is narrowed.
18.3.2
Croup
Croup (laryngotracheitis) is an infection of the upper
respiratory tract caused by parainfluenza or influ-
enza viruses. Croup most often occurs in children
between I and 3 years of age and is more frequent
during the winter and in boys.
Patients present with a barking cough and stridor.
The infection results in diffuse oedema of the mucosa
in the trachea and the subglottic region, which is
the narrowest portion of the respiratory tract in chil-
dren younger than 3 years of age. Furthermore, the
subglottis is completely surrounded by cartilaginous
rings. The lumen is therefore reduced by oedema
which may progress to complete laryngeal obstruc-
tion. Only when more than 80% of the subglottic
lumen is obstructed will there be stridor at rest, sug-
gesting how close children are to critical obstruc-
tion.
Imaging. The imaging method of choice for evaluat-
ing patients suspected of having croup are frontal and
lateral radiographs of the neck. Imaging serves to con-
firm the diagnosis of croup and to exclude other causes
of stridor, such as radio-opaque foreign bodies.
Radiographic findings are: loss of the normal
subglottic angles, resulting in a "steeple-shaped" or
"wine-bottle" configuration of the subglottic region
on frontal films; indistinctness of soft tissues in the
glottic region on lateral radiographs; an ill-defined
haziness present at the soft tissue-air interfaces
between the glottic and subglottic regions; dilatation
of piriform sinuses; and ballooning of the pharynx.
18.4
Other: Grisel's Syndrome (Non-traumatic
Subluxation of the Atlantoaxial Joint)
Grisel's syndrome involves subluxation of the atlan-
toaxial joint from inflammatory ligamentous laxity
Inflammatory Lesions of the Neck and Airways
following an infectious process. Even though it was
first described in 1930 (GRISEL 1930), it is a rare
disorder usually only seen in children. The pro-
posed mechanism is that septic exudate is transferred
from the pharynx to the CI-2 articulation, result-
ing in synovial and vascular engorgement leading to
mechanical and chemical damage to the transverse
and facet capsular ligaments, resulting in subluxation
(PARKE et al. 1984). Patients generally seek treatment
for progressive unrelenting throat and neck pain fol-
lowed by torticollis and subluxation. A variety of
common otolaryngeal infections may give rise to the
syndrome: nasopharyngitis, adenotonsillitis, tonsil-
lar abscess, parotitis, cervical abscess, otitis media
and mastoiditis (BERRY and MORIARTY 1999) may all
have this rare complication. It may also follow oto-
laryngologic procedures such as tonsillectomy, ade-
noidectomy and mastoidectomy (WILSON et al.
1987). Neurological complications occur in approxi-
mately 15% of cases and can range from radiculopa-
thy to myelopathy and even death (MATHERN and
BATZDORF 1989). Principles of management include
bacteriological cure, correction of bony deformity
and neurological protection.
Imaging. Radiographic evaluation should include
posteroanterior and lateral cervical spine films with
an open-mouth view. In the open-mouth view, rota-
tion of the atlas on the axis may diminish the joint
space between their lateral facets. The anterior arch
of the atlas and the dens may be separated in the
lateral view. Decalcification can be seen on plain
radiographs, but can take up to 6 weeks to appear.
Plain films, especially the lateral view, are frequently
interpreted as normal since displacement of the
atlas may be slight; therefore, lack of abnormal
radiographic findings does not rule out this condi-
tion.
The investigation of choice is either high-resolu-
tion CT scanning, with 3D reconstruction to dem-
onstrate bony subluxation and rotation (Roach et al.
1984), or MRI to detect signs of inflammation in the
ligaments concerned. In addition to demonstrating
posterior displacement of the odontoid process and
rotatory displacement of the atlas on the axis, MRI
can also show evidence of cord impingement. Ideally,
both investigations should be performed (McAfee et
al. 1986). It follows that if CT or MRI is used early
in a child with deep cervical inflammation, these
signs should be sought before they become clinically
apparent, as they will immediately upgrade the sever-
ity of the situation and lead to more aggressive treat-
ment.
255
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sound and oesophagography in the management of acute
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Berry DS, Moriarty RA (1999) Atlantoaxial subluxation related
to pharyngitis: Grisel's syndrome. Clin Pediatr 38:673-675
Brander A (1992) Ultrasound appearances in de Quervain's
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Castillo M, Mukherji SK (1996) Imaging of the pediatric head,
neck and spine. Lippincott-Raven, Philadelphia
Choi SS, Zalzal GH (1995) Branchial anomalies: a review of 52
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Choi SS, Verzina LG, Grundfast KM (1997) Relative incidence
and alternative approaches for surgical drainage of differ-
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yngol Head Neck Surg 123:1271-1275
Evans RM, Ahuja A, Rhys Williams S et al (1992) The lateral
neck radiograph in suspected impacted fish bones - does
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Fang J, Zhu M, Li C, et al (1998) The diagnosis of diffuse
goiter by ultrasound imaging in children. J Tongji Med
Univ 18:61-64
Farwell AP, Braverman LE (1996) Inflammatory thyroid disor-
ders. Otolaryngol Clin North Am 29:541-556
Ginsberg LE (1997) Inflammatory and infectious lesions of the
neck. Semin Ultrasound CT MRI 18:205-219
Glasier CM, Stark JE, Jacobs RF, et al (1992) CT and ultra-
sound imaging of retropharyngeal abscesses in children.
AJNR Am J Neuroradiol 13:1191-1195
Godin MS, Kearns DB, Pranski SM, et al (1990) Fourth bra-
chial pouch sinus: principles of diagnosis and manage-
ment. Laryngoscope 100:174-178
Grisel P (1930) Enucleation de l'atlas et torticolis nasophar-
yngien. Presse Med 38:50
Hiromatsu Y, Ishibashi M, Miyake I, et al (1999) Color Dop-
pler Ultrasonography in patients with subacute thyroidits.
Thyroid 9:1189-1193
Ivarsson SA, Ericsson UB, Fredriksson B, et al (1989) Ultra-
sound imaging in the differential diagnosis of diffuse thy-
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Lee FP (1999) Occult congenital pyriform sinus fistula causing
recurrent left lower neck abscess. Head Neck 21:671-676
Leung AK, Hegde K (1988) Hashimoto's thyroiditis simulating
de Quervain's thyroiditis. J Adolesc Health Care 9:434-435
Lue AJ, Fang WD, Manolidis S (2000) Use of plain radiography
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Mathern GW, Batzdorf U (1989) Grisel's syndrome. Cervical
spine clinical, pathologic, and neurologic manifestations.
Clin Orthop Rei Res 244:131-146
McAfee PC, Bohlman HH, Han JS, et al (1986) Comparison
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Nagy M, Backstrom J(I999) Comparison of the sensitivity of lat-
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19 Tumours of the Neck and Airways
A.E.BoOTHROYD

CONTENTS Although malignancy is relatively rare in child-

19.1 Introduction 257
19.2 Role of Imaging 257
19.3 Imaging of Specific Tumours 258
19.3.1 Lymphoma 258
19.3.1.1 Non-Hodgkin's Lymphoma 258
19.3.1.2 Hodgkin's Lymphoma 260
19.3.2 Neuroblastoma 260
19.3.3 Rhabdomyosarcoma 261
19.3.4 Thyroid Carcinoma 262
19.3.5 Sarcoma 263
19.3.5.1 Osteogenic Sarcoma 263
19.3.5.2 Ewing's Sarcoma/Primitive
Neuroectodermal Tumour 263
19.3.5.3 Neurofibrosarcoma 264
19.3.6 Germ Cell Tumour 264
19.4 ENT-Related Side Effects of Treatment
19.4.1 Chemotherapy 264
19.4.2 Radiotherapy 265
19.4.3 Second Malignancy 265
References 265
hood, the head and neck is the primary site in approx-
imately 5% cases. More than half of these cases occur
in the neck, and a painless mass is the most common
clinical finding.
Over all age groups lymphomas are the common-
est type of malignancy, followed by rhabdomyoscar-
coma, neuroblastoma and thyroid carcinoma. Other
rarer tumours include sarcomas and primitive neu-
roectodermal tumours.
Major advances in treatment have resulted in sur-
vival in 60% of children with cancer. This has resulted
in pressures to minimise the side effects of treat-
ment without compromising the chances of a com-
264 plete cure. This improvement has been largely due
to the development of chemotherapeutic agents to
which most paediatric malignancies respond well.

19.1
Introduction
This chapter is confined to malignant tumours of
the neck and airways. Benign lesions are discussed in
Chaps. 13 and 16 (cystic lesions of the head and neck
and airway compression). Salivary tumours, both
benign and malignant, are discussed in Chap. 24.
Most head and neck masses which occur in child-
hood are benign. Of those biopsied, congenital lesions
such as branchial cleft cyst, thyroglossal duct and
dermoid cysts are found most frequently (55%), then
inflammatory lymphadenopathy (30%), malignant
neoplasms (lO%) and benign neoplasms (5%) neo-
plasms (TORSIGLIERI et al. 1988).
A.E. BOOTHROYD, MD
Consultant Paediatric Radiologist, Alder Hey Children's Hos-
pital, Eaton Road, Liverpool, Ll2 2AP, UK
19.2
Role of Imaging
Ultrasonography is usually the first imaging modal-
ity since the commonest presentation is with a pain-
less mass in the neck. Ultrasound is reliable in show-
ing whether the lesion is solid or cystic and in many
cases allows determination of the precise nature of
the clinical swelling.
When a solid mass has been identified, imaging
of the primary site should be performed by com-
puted tomography (CT) or magnetic resonance imag-
ing (MRl). Intravenous contrast medium should be
administered and tumour measurements recorded in
at least the two largest diameters (INTERNATIONAL
SOCIETY OF PAEDIATRIC ONCOLOGY 1995).A volume
estimation calculated from the maximum sagittal,
coronal and axial diameters is favoured by many
investigators. When available, MRI is to be preferred
to CT due to its multiplanar capability, better lesion
characterisation and lack of ionising radiation. How-
ever, CT is superior to MR in the evaluation of bone
erosion.
258 A. E. Boothroyd

Imaging protocols at presentation vary with the third of patients with supraclavicular lymphadenop-
tumour type; for example, children with lymphoma athy (TORSIGLIERI et al. 1988) (Fig. 19.1).
will require imaging of the chest, abdomen and pelvis Painless cervical lymphadenopathy is the com-
in addition to their presenting neck mass for full monest presenting symptom and usually prompts an
staging. Imaging for metastatic disease also varies ultrasound examination. Ultrasonography is reliable
with the tumour type and may be guided by other in identifying the pathological lymph node enlarge-
features; for example, bone scintigraphy in children ment and predicting its cause, but CT or MRI is
with rhabdomyosarcoma may be restricted to those required for full staging. In addition to staging, imag-
with unfavourable histology or bone pain (McHuGH ing is valuable to detect compression or displacement
and BOOTHROYD 1999). of vital structures including the trachea (Fig. 19.2)
Follow-up imaging to assess tumour response and central veins (Fig. 19.3).
should ideally be performed with the same modality, Tumour classification is based on immunopheno-
either CT or MRI. The same technique should be used typing, since the treatment and progress are different
so that comparable measurements can be made and in each of the subgroups.
assessment of tumour dimensions is as accurate as
possible. This is particularly true of MRI, where 19.3.1.1
the same imaging planes, sequences and contrast Non-Hodgkin's Lymphoma
enhancement should be used wherever possible.
In the European SlOP (International Society of Histologically, non-Hodgkin's lymphoma is almost
Paediatric Oncology) studies, a clinical complete always "high-grade" and is divided into three main
response to chemotherapy is defined as disappear-
ance of all signs of tumour on the basis of both clini-
cal and imaging evidence (INTERNATIONAL SOCIETY
OF PAEDIATRIC ONCOLOGY 1995). A partial remis-
sion is defined by a decrease of 50% or more in
tumour area without the appearance of new areas of
disease. Progressive disease is defined by an increase
of 25% or more in tumour area or the appearance
of new areas of disease. Tumour volume measure-
ments are written into many oncology protocols, but
because tumours vary so widely in shape, accurate
estimations of tumour volume are often very difficult
to achieve in practice.
Precise imaging protocols for each tumour type
Fig.19.1. Contrast-enhanced axial CT reveals a left-sided
will not be given here as they are subject to variation supraclavicular mass in a child with lymphoma
between different institutions and countries.

19.3
Imaging of Specific Tumours

19.3.1
Lymphoma

Overall, non-Hodgkin's lymphoma accounts for two-

thirds of childhood lymphomas and Hodgkin's dis-
ease for one-third. In the head and neck region, how-
ever, Hodgkin's and non-Hodgkin's lymphoma occur
with equal frequency (RAPIDIS et al. 1988). The inci-
dence in boys is double that in girls. Enlarged upper Fig. 19.2. Axial MRI of the neck in a patient with lymphoma
cervical lymph nodes are usually due to a non-malig- demonstrates tracheal compression and deviation secondary
nant process, but lymphoma is diagnosed in one- to a cervical mass
Tumours of the Neck and Airways
Fig. 19.3. Contrast-enhanced CT shows compression of the
innominate vein by a mediastinal mass in a patient with lym-
phoma
subtypes. About 80% are "small-cell" tumours, sub-
divided into those of T-lymphoblastic or B-lympho-
blastic origin. The remaining 20% are comprised
almost entirely of anaplastic large-cell lymphoma
(REITER et al. 1994). The non-Hodgkin's lympho-
mas are staged using the St Jude's staging system
(Table 19.1) (MURPHY 1980). Intensive systemic treat-
ment has resulted in a dramatic improvement in
response such that the majority of children are cured
(JENKIN et al. 1982).
Table 19.1. St Jude staging system for non-Hodgkins's lym-
phoma
Stage Definition
Single tumour (extranodal) or single anatomical area
(nodal), excluding mediastinum or abdomen
II Single tumour (extranodal) with regional node
involvement: on same side of diaphragm
a. Two or more nodal areas
b. Two single (extranodal) tumours with or
without regional node involvement
Primary gastrointestinal tract tumour (usually
ileocaecal) with or without associated mesenteric
node involvement, grossly completely resected.
III On both sides of the diaphragm
a. Two single tumours (extranodal)
b. Two or more nodal areas
All primary intrathoracic tumours
(mediastinal, pleural, thymic).
All extensive primary intra-abdominal disease:
unresectable.
All primary paraspinal or epidural tumours,
regardless of other sites.
IV Any of the above with initial CNS or
bone marrow involvement «25%)
259
19.3.1.1.1
T-Lymphoblastic Non-Hodgkin's Lymphoma
Most T-lymphoblastic non-Hodgkin's's lymphomas
occur in boys aged 5-15 years. These tumours usually
arise in the mediastinum, most often in the thymus,
as a large anterior mediastinal mass with or without
pleural effusion. In addition, there is frequently pal-
pable lymphadenopathy in the supraclavicular, upper
cervical or axillary regions. Rapid enlargement may
cause airway compression producing stridor and
orthopnoea (Fig. 19.2) or obstruction to the superior
vena cava, leading to facial swelling and distended
veins in the head, neck and arms. Generalised lymph-
adenopathy and hepatosplenomegaly are associated
with bone marrow infiltration and may lead to a "leu-
kaemic" presentation. Rarely, the meninges may be
involved at diagnosis.
19.3.1.1.2
B-Lymphoblastic Non-Hodgkin's Lymphoma
This disease is also called Burkitt's lymphoma and
occurs in two forms which are indistinguishable by
immunophenotyping or histology. The endemic vari-
ety occurs in equatorial Africa. It is invariably asso-
ciated with Epstein-Barr virus infection and often
presents as a jaw mass.
In contrast, the sporadic variety is associated with
Epstein-Barr virus in only 20% of cases and most
often arises in the abdomen or Waldeyer's ring. A
small number of B-lymphoblastic lymphomas are
associated with inherited or acquired immunodef-
icency states including the acquired immune defi-
ciency syndrome (NADAL et al. 1994; HADFIELD et al.
1996). Overall, the jaw is the most common primary
site in endemic Burkitt's lymphoma, particularly in
children under 5 years of age (BURKITT 1970). In
contrast, only 20% of sporadic Burkitt's lymphomas
occur in the head and neck. For these 20%, however,
the jaw is still the commonest site, followed by the
tonsil, nasopharynx, skull, maxillary sinus, orbit and
nose (ANAVI et al. 1990).
19.3.1.1.3
Anaplastic Large-Cell Lymphoma
Anaplastic large-cell lymphoma is recognised by its
histological appearance and most cases express the
Ki-I antigen. The clinical presentation is with pro-
tracted ill health (lethargy, anorexia, weight loss and
unexplained fever) and lymphadenopathy, usually
cervical and mediastinal. The lymphadenopathy is
260 A. E. Boothroyd

often painful and may mimic an inflammatory pro-
cess. Lung and skin disease are common, but bone
marrow and CNS involvement are rare (RUBIE et al.
1994) The prognosis is similar to that for B-celllym-
phoma, with a 5-year survival of approximately 80%
(REITER et al. 1994).
19.3.1.2
Hodgkin's Lymphoma
There is a bimodal peak in the age incidence ofHodg-
kin's disease. The earlier peak occurs in the third
decade in the "industrialised" world but before ado-
lescence in the "developing" world. The disease is rare
in children under 5 years of age (KERR 1997). The
commonest presentation is with cervical or supracla-
vicular lymphadenopathy, and two-thirds of patients
have co-existing mediastinal lymphadenopathy. One
third have "B" symptoms, which include unexplained
fever, weight loss and drenching night sweats.
The diagnosis is made following lymph node
biopsy and the detection of characteristic large, mul-
tinucleate Reed-Sternberg cells. There are four histo-
logical subtypes: nodular sclerosis (60%), mixed
cellularity, lymphocyte predominance and lympho-
cyte depletion (DONALDSON and LINK 1987). The
Ann Arbor staging system is still frequently used
(Table 19.2) (CARBONE et al. 1971).
with other reported sites: abdomen (65%), thorax
(15%) and pelvis (5%) (GOLDBERG et al. 1996). Head
and neck manifestations are more likely to be due
to secondary deposits from non-cervical primaries.
Overall, the median age at diagnosis is 2 years, but
most primary cervical tumours present in the 1st year
oflife (SMITH and KATZ 1990).
Clinical presentation is usually with a painless,
fixed, unilateral cervical mass. Other symptoms may
include stridor, dysphagia and an ipsilateral Horn-
er's syndrome. Heterochromia of the irides may
also occur, which is characteristic of neuroblastoma
(RIGGS et al. 1977).
Neurological signs occur if there is tumour exten-
sion through the intervertebral foramen or with ops-
oclonus-myoclonus or "dancing eyes" syndrome.
The extent of the primary disease and staging is
assessed using CT and MRI (Fig. 19.4). MRI defines
the soft tissue extent of the tumour more accurately,
particularly in relation to the parapharyngeal wall
and parotid gland. However, its real strength is in
defining the mass in relation to the surrounding ves-
sels, usually displacing the carotid artery and jugu-
lar vein anteriorly. CT will demonstrate the calcifica-
tion characteristic of neuroblastoma and is superior
to MRI in defining any bone erosion (GOLDBERG et
al. 1996).

19.3.2
Neuroblastoma

Neuroblastoma arises from undifferentiated precur-

sor cells of the sympathetic nervous system. A cervi-
cal origin is relatively uncommon (5%) compared

Table 19.2. Ann Arbor staging classification

Stage Definition
Stage I Involvement of a single lymph node region (I)
or a single extralymphatic organ or site (IE)
Stage II Involvement of two or more lymph node regions
on the same side of the diaphragm (II) or solitary
involvement of an extralymphatic organ or site
and of one or more lymph nodes on the same
side of the diaphragm (lIE)
Stage III Involvement of lymph node regions on both sides
of the diaphragm (III) which may be accompanied
by localised involvement of extralymphatic organs
or site (III E) or by spleen (Ills) or both (Ill SE )'
Stage IV Diffuse or disseminated involvement of one or
more extralymphatic organ or tissues with or
without associated lymph node enlargement. Fig. 19.4. Coronal inversion recovery MRI demonstrates the
infiltrative pattern of a cervical neuroblastoma
Tumours of the Neck and Airways
Neuroblastoma spreads to lymph nodes, bone,
marrow and liver, so that isotope bone scanning,
and usually MIBG (metaiodobenzylguanidine) imag-
ing in addition, are required to define distant metas-
tases. The international staging system is given in
Table 19.3 (BRODEUR et al. 1993).
Cervical neuroblastoma has a favourable prognosis
in the majority of patients. The actuarial survival at
6 years is related to tumour stage at diagnosis: stage I,
100% survival; stage 11,94%; stage III, 60%-70% and
stage IV, 20%-30% (BERTHOLD 1990). Stage I and IIA
disease is treated by surgery alone, and even if there
is macroscopic residual disease the prognosis remains
good. This is presumably because the disease regresses
spontaneously. Such favourable outcomes also occur
in children with a delayed clinical diagnosis and exten-
sive local spread (ABRAMSON et al. 1993).
19.3.3
Rhabdomyosarcoma
Rhabdomyosarcoma is the most common soft tissue
sarcoma in children under the age of 15 years. It arises
from mesenchymal tissue. The head and neck region
is the most common site of origin (40%), followed by
Table 19.3. International staging system for neuroblastoma
Stage Definition
Localised tumour with complete gross excision, with
or without microscopic residual disease: representative
ipsilateral lymph nodes negative for tumour
microscopically (nodes attached to and removed
with the primary tumour may be positive) .
IIA Localised tumour with incomplete gross excision:
representative ipsilateral non-adherent lymph nodes
negative for tumour microscopically.
lIB Localised tumour with or without gross excision,
with ipsilateral non-adherent lymph nodes positive
for tumour. Enlarged contralateral lymph nodes
must be negative microscopically.
III Unresected ipsilateral tumour infiltrating across the
midline, with or without regional lymph node
involvement: or localised unilateral tumour with
contralateral regional lymph node involvement: or
midline tumour with bilateral extension by
infiltration (unresectable) or by lymph node
involvement.
IV Any primary tumour with dissemination to distant
lymph nodes, bone, bone marrow, liver, skin and/or
other organs (except as defined for stage IV S)
IV S Localised primary tumour (as defined for stage I,
IIA or lIB) with dissemination limited to skin, liver
and/or bone marrow (limited to infants <1 year of
age)
261
the genitourinary tract (20%), extremities (20%) and
trunk (10%). The median age at diagnosis is 6 years.
Because of their different presentations and progno-
ses, head and neck tumours are further subdivided
by site of origin: orbital (25%), non-orbital parame-
ningeal (nasopharynx, paranasal sinuses, middle earl
mastoid, pterygoid/infratemporal fossa) (50%) and
non-orbital, non-parameningeal, e.g. neck, face, larynx
(25%). A common presentation in this latter group is a
painless, cervical mass (ROBINSON et al. 1988).
Imaging of the primary site should be performed
with CT or MRI. MRI may be more sensitive in
detecting intracranial extension and CT is superior in
assessing bone erosion. Imaging defines the tumour
mass, but unfortunately other relatively common
tumours of the neck such as lymphoma normally
have similar signal intensity characteristics, even
with differing MRI sequences. (YOUSEM et al. 1990).
Overall, up to 14% of children with rhabdomyo-
sarcoma will have metastatic disease at presentation,
but this occurs in fewer than 5% of head and neck
cases. Rhabdomyosarcoma may spread to regional
lymph nodes, lungs, liver, bone and bone marrow.
Therefore chest CT and isotope bone scans are
included on most protocols (McHUGH and
BOOTHROYD 1999)
Detection of local relapse has proved difficult in
head and neck rhabdomyosarcoma in the presence of
a "post-therapeutic residue" (GILLES et al. 1994). Evi-
dence from other tumours suggests that dynamic MRI
may be helpful in distinguishing between tumour
and post-therapeutic fibrosis (DE BAERE et al. 1992)
Staging of rhabdomyosarcoma has been difficult
because different staging systems are in use. The pre-
_ treatment TNM system utilised for many adult can-
cers is used by the International Society of Paediatric
Oncology (SlOP). The North American Intergroup
Rhabdomyosarcoma Study (IRS) grouping system is
a post-surgical grading system (Table 19.4) (MAURER
1975). However, the extent of initial surgery may
vary significantly between institutions, with differing
approaches to possible mutilating surgery or the late
effects of radiation therapy.
All tumours are treated with multi-agent chemo-
therapy and the decision regarding local treatment
- whether irradiation or resection or both - should
be determined by the TNM stage, age of the child
and site of the primary tumour (DONALDSON and
ANDERSON 1997).
The larynx is an unusual site for rhabdomyo-
sarcoma; it presents management problems because
extensive surgery - total laryngectomy - is mutilat-
ing, while radiotherapy to the larynx has resulted in
262
Table 19.4. Intergroup Rhabdomyosarcoma Study clinical
grouping system
Group Definition
I Localised disease, completely resected
IA Confined to organ or muscle of origin
IB Infiltration outside organ or muscle of origin,
regional nodes not involved
II Compromised or regional resection
IIA Grossly resected tumour with microscopic residual
disease.
lIB Regional disease, completely resected, in which
nodes may be involved and/or extension of tumour
into an adjacent organ may exist.
IIC Regional disease with involved nodes, grossly
resected, but with evidence of microscopic residual
disease.
III Incomplete resection or biopsy with gross residual
disease.
IV Distant metastases at diagnosis
thyroid insufficiency and adenomas, and in addition
the musculature of the neck may become thin and
fibrous. More serious complications such as bilateral
carotid stenosis have occurred as long-term sequelae
(KATO et al.1991)
Overall, the prognosis for head and neck rhab-
domyosarcoma (non-parameningeal) is good, with a
3-year survival of 94% (LAWRENCE et al.1997).
19.3.4
Thyroid Carcinoma
Carcinomas are rare in children, accounting for 1-2 %
of malignancies, but almost half of these occur in the
head and neck region. The thyroid is the most common
site (21%), followed by the nasopharynx (15%) and
salivary glands (7%) (MCWHIRTER et al. 1989).
The peak age for the development of thyroid car-
cinoma is 25-40 years; fewer than 10% present in
patients under 20 years of age. As in adults, three-quar-
ters of cases occur in females. Eighty-five to 90% of the
tumours prove to be papillary on histological analysis;
the rest, in decreasing order of frequency, are mixed
papillary-follicular, then follicular, then, rarely, medul-
lary, anaplastic and undifferentiated carcinomas.
The commonest presentation is with anterior cer-
vical adenopathy of long duration. Other presenta-
tions include a firm, palpable thyroid nodule with
or without enlarged cervical lymph nodes. In more
than 50% of cases there is spread to local cervical
and upper mediastinal lymph nodes, but this does
not necessarily worsen the prognosis. Ultrasound is
normally the primary imaging modality (Fig. 19.5),
A. E. Boothroyd
Fig. 19.5. Ultrasonogram of the thyroid reveals a heteroge-
neous mass. This was confirmed to be a medullary carcinoma
at histology
but CT is required for staging. Lung metastases occur
in 20%, whereas bone metastases or metastases below
the diaphragm are uncommon (KUEFER et al. 1997).
Radiation is an important aetiological factor.
Patients treated for benign conditions as well as
malignant diseases have been reported to develop
papillary thyroid carcinoma after previous thyroid
irradiation. Secondary thyroid carcinomas after che-
motherapy for Hodgkin's and other tumours have
been documented. Among those treated for Hodg-
kin's disease, the risk of subsequent thyroid cancer
is increased 68-fold (TUCKER et al. 1984) Sadly, there
has been a striking increase in the incidence of
childhood thyroid carcinoma secondary to the Cher-
nobyl disaster following the ingestion of radioiodines
(NIKIFOROV and GRIEPP 1994). Other rare associa-
tions include carotid body tumours, Gardner's and
Pendred's syndromes (CAMIEL et al. 1968) and auto-
immune thyroid disease (MAURAS et al. 1985).
Following a histological diagnosis, radical thyroid-
ectomy preserving the recurrent laryngeal nerves and
at least one parathyroid gland is the preferred thera-
peutic procedure. All involved lymph nodes must be
excised from the deep cervical chain and, if demon-
strated on imaging, involved mediastinal nodes are
also removed. Postoperatively, an ablation dose of
131
1 is given to eradicate the normal thyroid remnant
which is invariably present. If this tissue is not
destroyed, it will "soak up" radio-labelled iodine
during subsequent tracer studies and prevent visuali-
sation of metastases. Thyroid-stimulating hormone
(TSH) suppression with thyroid hormone is also car-
ried out postoperatively to reduce the risk of recur-
rence of well-differentiated thyroid carcinoma.
Tumours of the Neck and Airways 263

Follow-up imaging includes chest radiographs, and
1 scintigraphy together with serum thyroglobulin
123
measurement. Long-term follow-up is required because
of the risk oflate recurrence (KUEFER et al. 1997).
Patients who are young at diagnosis and without
distant metastases have a better prognosis, but the
presence of cervical nodal metastases does not
adversely affect outcome. Survival rates of over 90%
have been documented (ZIMMERMAN et al. 1988)
19.3.5
Sarcoma
A sarcoma is a malignancy originating from primi-
tive mesenchymal cells which under normal circum-
stances develop into supportive tissue such as muscle
and bone. The most common sarcoma is a rhabdo-
myosarcoma (see Sect. 19.3.3), which shows features
of skeletal muscle differentiation. Other, rarer sarco-
mas will be discussed in this section.
ends of a spectrum of differentiation. Both may arise
from bone or soft tissue and they share a specific
chromosomal translocation [t (llq; 22q)] (TAYLOR
et al. 1993).
Most of these tumours occur in the second decade
of life, and there is a slight male preponderance.
Less than 10% arise in the head and neck. Paraspinal
tumours may spread through the intervertebral
foramina and result in cord compression (Fig. 19.6).
Distant spread is to the lungs, bone and bone marrow,
and almost all children have micrometastases at pre-
sentation.
Local treatment normally consists of radiotherapy
as the site often precludes radical excision. This is
combined with chemotherapy. The actuarial 5-year
survival rate is 60-70%, but, because of the high
radiotherapy dose required, the cosmetic outcome
may be poor (KERR 1997).

19.3.5.1
Osteogenic Sarcoma

Osteogenic sarcoma arises from primitive bone-form-

ing mesenchymal cells. It occurs most frequently in the
long bones of adolescents and young adults during the
period of maximum growth. Only about 10% occur in
the head and neck. Osteogenic sarcoma can be induced
by irradiation and is commoner in patients with hered-
itary retinoblastoma. The risk is substantially increased
when these factors are combined. Other risk factors
include fibrous dysplasia and previous exposure to tho-
rium oxide (MARK et al.199l). The clinical presentation
is one of a firm, fixed swelling with or without pain.
Plain films demonstrate an aggressive bone lesion, typi-
cally with evidence of a new bone formation. Over 80%
of patients have micrometastatic disease at diagnosis,
most commonly in the lungs.
Compared with the management of limb tumours,
surgery of head and neck sarcomas is difficult, and
therefore the latter are associated with a higher risk
of local failure despite multi-modality therapy. Death
from local failure is usually due to direct extension of
tumour into the brain.

19.3.5.2
Ewing's Sarcoma/Primitive Neuroectodermal
Tumour
Fig. 19.6. Sagittal MRI demonstrates a mass arising within the
vertebral body with extension intraspinally and into the pre-
Ewing's sarcoma and pnmItive neuroectodermal vertebral soft tissues. This was on histology confirmed to be a
tumour (PNET) are thought to represent opposite primitive neuroectodermal tumour
264
19.3.5.3
Neurofibrosarcoma
Other rarer sarcomas include neurofibrosarcomas.
These typically arise in patients with neurofibroma-
tosis, which may have as many as eight different clini-
cal subtypes; however, types 1 and 2 (NF-l and NF-2)
account for over 99% of cases (HERRON et al. 2000).
NF-l (von Recklinghausen's disease, or peripheral
neurofibromatosis) is characterised by multiple cuta-
neous skin lesions, central nervous system tumours
and mesodermal dysplasia. The condition occurs
with an incidence of one in 3000; it has an autosomal
dominant pattern of inheritance and is due to a muta-
tion of chromosome 17, but 50% of patients have
mutations and no family history. It is not an abso-
lute clinical entity and up to eight forms may exist
(SMIRNIOTOPOULOS and MURPHY 1992). Schwanno-
mas arising from peripheral nerves may give rise to
a characteristic dumbbell tumour (Fig.19.7).
19.3.6
Germ Cell Tumours
Germ cell neoplasms in either gonadal or extrago-
nadal sites constitute a small but varied group
of childhood tumours. The head and neck region
accounts for 5% of all sites encountered (STEPHEN-
SON et al. 1989). Less than 5% contain malignant ele-
ments, compared with two-thirds of adult tumours.
However, neonatal tumours often present dramati-
cally due to airway obstruction and require urgent
and skilful surgery.
Fig. 19.7. Axial Tl-weighted MRI in a patient with known neu-
rofibromatosis type I demonstrates a mass extending laterally
from the prevertebral soft tissues. An intraspinal component
of the neurofibrosarcoma is demonstrated at other levels
A. E. Boothroyd
Head and neck tumours have been categorised
according to the age and clinical features of patients
at presentation (JORDAN and GAUDERER 1988): group
I, stillborn/moribund at birth (12%); group II, new-
born with respiratory distress (46%); group III, new-
born without respiratory distress (17%); group IV,
children (aged 1 month to 18 years) (14%); and group
V, adults (11 %).
Serum levels of a-fetoprotein (AFP) and l3-human
chorionic gonadotrophin (I3-HCG) levels should be
measured prior to surgery. Raised levels indicate
malignancy, but comparison with age-related normal
values is required as these are high in the newborn,
dropping to "adult" levels by the age of 21 weeks.
More than 80% of children with malignant germ
cell tumours are cured with chemotherapy; radio-
therapy is rarely required.
19.4
ENT-Related Side Effects of Treatment
19.4.1
Chemotherapy
Non-specific side effects of chemotherapy affect cells
with a rapid turnover, causing acute bone marrow
and immune suppression. Drugs such as doxorubi-
cin, actinomycin D, etoposide and carboplatin cause
damage to the mucosa of the gastrointestinal tract,
in particular the mouth and pharynx.
More specific side effects include a mononeurop-
athy due to vincristine and vinblastine, which may
produce a facial, phrenic or recurrent laryngeal nerve
palsy. Jaw pain, sometimes referred to the ear, is
another relatively common idiosyncratic side effect
of the vinca alkaloids and may require narcotic anal-
gesia. Cisplatin is associated with dose-dependent
ototoxicity. Hearing loss is rare at doses less than
300 mg/m 2 and tends to affect high frequencies ini-
tially (BROCK et al. 1991). The use of aminoglycoside
antibiotics such as gentamicin to treat neuropenic
fevers may also be implicated. Radiotherapy may also
produce hearing loss, and combination with cispla-
tin compounds at the same time should be avoided
as each tends to exacerbate the effect of the other
(WALKER et al. 1989).
Tumours of the Neck and Airways
19.4.2
Radiotherapy
Radiotherapy of the head and neck has been com-
monly used in the treatment of rhabdomyosarcoma
and lymphoma, although mantle field irradiation is
now much less frequently used in the management
of childhood Hodgkin's disease. Late effects include
bony hypoplasia of the facial bones, mandible and
clavicles and muscle wasting in the neck (MALPAS
1996). Dental abnormalities are frequent (82%) and
include foreshortened and blunted roots, incomplete
calcification, premature closure of the apices, delayed
or arrested bone development and caries (JAFFE et
al. 1984). Abnormalities are more severe in children
irradiated at an early age or with high doses.
Thyroid disease is well recognised following radio-
therapy to the neck in childhood. Abnormal thyroid
function is found in the majority of patients fol-
lowed up (64%), and they are also more likely to
develop both benign and malignant thyroid nodules
(STAFFORD et al. 1999). Long-term follow-up of such
patients is essential because of the long natural his-
tory of the development of thyroid dysfunction.
19.4.3
Second Malignancy
Radiotherapy is implicated in the development of
second primary tumours, and when combined with
chemotherapy is associated an even higher incidence
of second tumours. Among the radiation-induced
tumours, osteogenic sarcomas are of great impor-
tance for their high frequency and very aggressive
behaviour. (VARELA-DuRAN and DEHNER 1980).
Other tumours associated with radiotherapy include
non-melanoma malignant skin tumours, thyroid and
central nervous system tumours and second primary
leukaemias. Genetic predisposition to multiple pri-
mary tumours exists among the survivors of genetic
retinoblastoma and children with neurofibromato-
sis or Gorlin's syndrome. However, even allowing for
any genetic predisposition, radiotherapy has contrib-
uted substantially to the excess of second tumours
observed (HAWKINS et al. 1987).
With the dramatic improvement in prognosis for
children with cancer in the last three decades and the
increasing awareness of the toxic effects of treat-
ment, there is increasing effort to identify high-risk
groups. Therefore, the more rigorous and potentially
more toxic treatment is only given to children whose
tumours show adverse prognostic markers.
265
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20 Vascular Lesions of the Head and Neck in Children
CAROLINE D. ROBSON

CONTENTS 20.1
Terminology and Classification
20.1 Terminology and Classification 267
20.2 Vascular Tumors 268 Vascular lesions of the head and neck are common
20.2.1 Hemangioma 268
20.2.1.1 Pathogenesis 268
in children. Considerable confusion exists as to the
20.2.1.2 Clinical Features 268 nomenclature, classification, diagnosis and treatment
20.2.1.3 Associated Malformations 269 of these lesions. The same term is often used to
20.2.1.4 Differential Diagnosis 273 denote entirely disparate lesions, such as the term
20.2.1.5 Treatment 273 hemangioma, which has been generically and indis-
20.2.2 Kaposiform Hemangioendothelioma 273
20.2.2.1 Clinical Features 273
criminately applied to a variety of vascular masses
20.2.2.2Differential Diagnosis 274 including true hemangiomas and venous malforma-
20.2.2.3 Treatment 275 tions. The term cavernous hemangioma is confusing
20.3 Vascular Malformations 275 and has been used to refer to either a deep heman-
20.3.1 Pathogenesis 275 gioma or a venous malformation. A variety of names
20.3.2 Capillary Malformation 275
20.3.2.1 Clinical Features 275
have also been used to denote anomalies of the lym-
20.3.2.2 Associated Malformations 275 phatic system, for example cystic hygroma, lymphan-
20.3.3 Venous Malformation 276 gioma and lymphatic malformation. Hybrid terms
20.3.3.1 Clinical Features 276 such as lymphohemangioma or hemangiolymphan-
20.3.3.2 Associated Malformations 276 gioma also promote confusion by suggesting a pro-
20.3.3.3 Differential Diagnosis 277
20.3.3.4 Treatment 277 liferative lesion when usually denoting a combined
20.3.4 Lymphatic Malformation 280 vascular malformation. As appropriate treatment
20.3.4.1 Clinical Features 280 depends on an accurate diagnosis, a significant
20.3.4.2 Associated Malformations 280 number of patients with vascular anomalies ulti-
20.3.4.4 Differential Diagnosis 282 mately receive inaccurate or potentially harmful
20.3.4.5 Treatment 283
20.3.5 Arteriovenous Malformation 283 treatment based on misdiagnosis of the lesion.
20.3.5.1 Clinical Features 283 MULLIKEN and GLOWACKI evaluated the physical
20.3.5.2 Associated Malformations 284 findings, natural history and cellular features of vas-
20.3.5.3 Differential Diagnosis 284 cular anomalies (MULLIKEN and GLOWACKI 1982).
20.3.5.4 Treatment 284 On the basis of their investigations, they proposed
20.3.6 Combined Vascular Malformation 286
References 286 a biological classification of vascular anomalies that
has helped to resolve the confusion regarding ter-
minology and treatment of these common lesions.
This system separates the vascular anomalies into
two major categories: vascular tumors and vascular
malformations. This distinction is clinically useful
and guides the choice of appropriate therapy. Vascu-
lar tumors, such as hemangioma, are characterized
by rapid growth, endothelial proliferation and hyper-
C.D. ROBSON, M.B., Ch.B.
Assistant Professor of Radiology, Children's Hospital and Har-
plasia. The suffix -oma should be restricted to lesions
vard Medical School, 300 Longwood Ave, Boston, MA 02115, that show cellular proliferation (MULLIKEN and
USA GLOWACKI 1982). Vascular malformations are non-
268
proliferating lesions that arise from dysmorphogene-
sis. These malformations grow commensurately with
the patient or expand secondary to hemodynamic
alteration. The vascular malformations are further
classified according to their dominant component
and hemodynamic features. Slow-flow lesions include
capillary malformations (CMs), venous malforma-
tions (VMs) and lymphatic malformations (LMs).
High-flow malformations are arterial lesions [e.g.,
arteriovenous fistulae (AVFs), arteriovenous malfor-
mations (AVMs)]. There are also complex malforma-
tions that contain a combination of elements. The
MULLIKEN and GLOWACKI biologic classification was
adopted as official nomenclature for vascular anoma-
lies by the International Workshop for the Study of
Vascular Anomalies (ENJOLRAS and MULLIKEN 1997;
ENJOLRAS 1997).
20.2
Vascular Tumors
20.2.1
Hemangioma
20.2.1.1
Pathogenesis
The etiology of hemangioma is not as yet known.
Hemangiomas have a characteristic life cycle of ini-
tial proliferation with rapid growth during the first
year of life, followed by involution with slow regres-
sion during the several ensuing years. These stages
have been documented by light and electron micros-
copy and immunohistochemical techniques (TAKA-
HASHI et al. 1994). Proliferating hemangiomas con-
tain a large number of mast cells, in contrast to
involuting hemangiomas and vascular anomalies
(GLOwACKI and MULLIKEN 1982). Proliferation is
associated with increased levels of the angiogenic
proteins basic fibroblast growth factor (FGF) and
vascular endothelial growth factor (VEGF) (VIK-
KULA et al. 1998). During the proliferating phase,
hemangiomas are characterized by marked vascu-
larity and are classified as high-flow tumors. Invo-
lution is characterized by induction of a tissue
inhibitor of metalloproteinase which suppresses new
blood vessel formation (VIKKULA et al. 1998). Endo-
thelial apoptosis, decreased angiogenesis and a com-
mensurate decrease in vascularity and size have been
observed in involuting hemangiomas (MULLIKEN et
al. 2000).
C. D. Robson
20.2.1.2
Clinical Features
Hemangioma is the most common vascular tumor
and arises almost exclusively in infants (MULLIKEN
et al. 2000). The incidence is higher in female than
in male infants, and in low-birth-weight premature
infants. The lesion typically first appears in the early
neonatal period, sometimes heralded by a cutane-
ous sign at birth. Occasional cases of true congenital
hemangioma that proliferate in utero and manifest
as fully developed tumors at birth have been docu-
mented (BOON et al. 1996). Congenital hemangiomas
typically exhibit an accelerated life cycle and may
involute completely during the first year of life (BOON
et al. 1996). Approximately 20% of patients have mul-
tiple hemangiomas that involve sites such as skin,
liver, gastrointestinal tract and brain. Hemangiomas
are most prevalent in the head and neck region (60%)
(MULLIKEN et al. 2000). Intracranial and intraspinal
hemangiomas can also occur, usually in association
with multiple cutaneous and hepatic hemangiomas.
Hemangiomas that involve the central nervous
system tend to be dural or pial-based (MULLIKEN et
al. 2000).
In most cases, the diagnosis of hemangioma is
readily made by a combination of the medical his-
tory, physical examination and ultrasound (Fig. 20.1)
or magnetic resonance imaging (MRI) (Fig. 20.2).
Typical superficial hemangiomas are red, raised and
Fig. 20.1. A 6-week-old boy with a hemangioma who presented
with subcutaneous swelling and bluish discoloration of recent
onset involving the right cheek. Ultrasound demonstrates a
lobulated, homogeneous, hypoechoic mass. There are enlarged
vessels coursing through the mass (arrows)
 Vascular Lesions of the Head and Neck in Children
a b
c
bosselated. Deep hemangiomas typically have normal
overlying skin and are therefore often confused with
the vascular malformations or other vascular tumors.
Complications of hemangiomas include cosmetic
deformity, mass effect and interference with vital
functions as a result of distortion or mass effect. Peri-
orbital hemangiomas (Fig. 20.2) may interfere with
vision. Subglottic hemangiomas produce hoarseness
and biphasic stridor with potentially life-threaten-
ing respiratory compromise (MULLIKEN et al. 2000).
Local complications of hemangiomas also include
ulceration and bleeding. Although high-output car-
diac failure is usually caused by hepatic hemangio-
mas, large hemangiomas elsewhere can also affect
cardiac output (Fig. 20.3).
The Kasabach-Merritt phenomenon refers to the
development of life-threatening thrombocytopenia
as result of platelet trapping that was first described
269
Fig.20.2a-c. A 6-week-old boy with a left periorbital hem-
angioma. MRI was performed to assess the extent of orbital
involvement. a On an axial conventional spin-echo (CSE) Tl-
weighted image the preseptal hemangioma (arrow) is isoin-
tense with brain. b On an axial fast spin-echo inversion recov-
ery (FSEIR) T2-weighted image the tumor is isointense with
white matter, and lower in signal intensity than the vitreous
humor of the globe. c On an axial gadolinium-enhanced,
fat suppressed CSE Tl-weighted image the hemangioma
enhances homogeneously and intensely. A flow void represent-
ing a small vessel (arrow) can be seen coursing into the dorsal
aspect of the tumor
in the presence of a giant hemangioma (KASABACH
and MERRITT 1940). Recently it has been recognized
that this profound form of consumptive coagulopa-
thy is not associated with true hemangiomas but
with two other vascular tumors - kaposiform heman-
gioendothelioma and tufted angioma (ENJOLRAS et
al. 1997; SARKAR et al. 1997; VIN-CHRISTIAN et al.
1997).
20.2.1.3
Associated Malformations
Since hemangiomas are common tumors, they can
coexist with a number of other developmental anom-
alies without the existence of a true association. A
true association is usually only considered when two
abnormalities occur together with a frequency of
greater than 10% (MULLIKEN et al. 2000). Absence or
 270
8
b 20.2.1.3.1
Fig. 20.38, b. An ll-month-old girl with bilateral facial hem-
angiomas and high-output cardiac failure. 8 Coronal CSE Tl-
weighted MR reveals large bilateral hemangiomas with very
prominent flow voids (arrows). b Vascularity is indicated by
flow-related enhancement on gradient-echo images (arrows)
hypoplasia of the internal carotid and/or vertebral
arteries and persistence of the trigeminal artery have
been reported as the most common intracranial
vascular anomalies to be associated with hemangi-
oma (PASCUAL-CASTROVIEJO et al. 1996) (Fig. 20.4).
Progressive cerebrovascular occlusive changes with
acquired neurologic symptoms and cerebral infarc-
tion on MRI have also been documented in patients
with craniofacial hemangioma. Angiographically,
both aneurysmal and occlusive changes that are
potentially progressive have been demonstrated
(Fig. 20.5). A causative association between occlusive
cerebrovascular disease and pharmacologic treat-
ment has not, however, been excluded (BURROWS et
al. 1998a).
C. D. Robson
Other malformations reported to have an
increased incidence in children with hemangiomas
include Dandy-Walker spectrum of posterior fossa
anomalies (REESE et al. 1993; FRIEDEN et al. 1996)
(Fig.20.6), sternal anomalies (HERSH et al. 1985;
SCHIEKEN et al. 1987; BURNS et al. 1991; GORLIN et
al. 1994; BOULINGUEZ et al. 1998; CRISPONI et al.
2000; FOKIN 2000; RAAS-RoTHSCHILD et al. 2000),
spinal dysmorphism (TILL 1969; ALBRIGHT et al.
1989; SERNA et al. 1993), genitourinary anomalies
(BURNS et al. 1991) and aortic arch anomalies
(Fig. 20.4B), including atresia, coarctation or aneu-
rysm (BURNS et al. 1991; PASCUAL-CASTROVIEJO et
al.1996; CRISPONI et al. 2000). The acronym PHACES
has been proposed to emphasize the association of
the following characteristic features: posterior fossa
malformations, hemangiomas, arterial anomalies,
coarctation of the aorta and cardiac defects, eye
abnormalities and sternal malformations (BOULIN-
GUEZ et al. 1998; FRIEDEN et al. 1996) (Fig. 20.6).
This association is of uncertain pathogenesis but is
thought to result from a developmental field defect
that occurs during early gestation (FRIEDEN et al.
1996). There is a female predominance in PHACES
and the hemangioma is usually large, plaquelike and
segmental, and facial, and the initial presentation
may be mistaken for the port-wine stain associated
with Sturge-Weber syndrome (METRY and HEBERT
2000).
Imaging
Most hemangiomas do not require imaging. When
tissue characterization or delineation of the extent of
the lesion is required, MR is considered the imaging
modality of choice.
Ultrasonography. Ultrasonography with color Dop-
pler imaging and Doppler spectral analysis is a non-
invasive, cost-effective modality that is useful for
differentiating between deep-seated hemangiomas
(solid) and venous malformations (cystic). Proliferat-
ing hemangioma is depicted as a well-circumcribed
solid mass (see Fig. 20.1) in which both high-veloc-
ity, low-resistance arterial and venous flow is usually
detectable (PALTIEL et al. 2000). Evidence of arterio-
venous shunting is suggested by the demonstration
of pulsatile flow in draining veins (BURROWS et al.
1998b). Proliferating hemangioma is differentiated
from AVM by the presence of solid tissue (PALTIEL
et al. 2000). During the involuting phase, arterial and
venous flow diminish.
 Vascular Lesions of the Head and Neck in Children
c moya-Iike collaterals superior to this
Computed Tomography. Hemangiomas appear as lob-
ulated solid tumors that are isodense with muscle and
enhance rapidly and intensely following the admin-
istration of contrast material. Prominent associated
vessels are seen with proliferating hemangioma. As
on ultrasonography, the parenchymal mass differ-
entiates hemangioma from AVM. The enhancement
pattern and vascularity differentiate hemangioma
from LM. The vascularity and early enhancement
may help to differentiate hemangioma from VM.
Magnetic Resonance Imaging. Proliferating hem-
angiomas appear as lobulated tumors with promi-
nent vascularity that is well demonstrated on MRI
(Figs. 20.2, 20.3, 20.6, 20.7a). Enlargement of native
271
Fig. 20.4a-c. A I-month-old girl with a facial hemangioma and
cerebral infarction. a Axial CSE Tl-weighted image reveals a
diminutive right internal carotid artery (thick arrow) and only
a punctate ftowvoid in the expected location of the left internal
carotid artery (thin arrow). b Arch aortogram demonstrates a
right-sided aortic arch with an aberrant left subclavian artery.
c Selective hand injection of the left internal carotid artery
shows diffuse narrowing of the left internal carotid artery with
supraclinoid occlusion (arrowhead). There are dense moya
vessels within the lesion produce conspicuous flow
voids on spin-echo or inversion recovery pulse
sequences and flow-related enhancement on gradi-
ent-echo angiographic pulse sequences. Proliferating
hemangiomas are moderately hyperintense on T2-
weighted images and enhance intensely (Fig. 20.2b).
Hemangiomas do not usually cause significant skel-
etal distortion or hypertrophy (BOYD et al. 1984).
Minor cartilaginous or bony overgrowth or bony
remodelling due to mass effect can occur with large
facial hemangiomas. The PHACES association should
be considered in any infant with a large plaquelike
facial hemangioma; MRI should then include exam-
ination of the brain (METRY and HEBERT 2000)
(Fig. 20.6). Involuting hemangiomas are character-
 272 C. D. Robson

Fig. 20.5. A 2-year-old girl with a periorbital hemangioma and

cerebral infarction. Selective injection reveals marked tortu-
ous dysplasia of the right internal carotid artery with inum-
merable basal collaterals

Fig. 20.6. An infant girl with multiple cervicofacial hem-

angiomas. This patient has features of the PHACES associa-
tion including tetralogy of Fallot. Sagittal CSE Tl-weighted
MRI demonstrates multiple hemangiomas (arrowheads) and
Dandy-Walker spectrum anomaly of the posterior fossa

a b

Fig. 20.7. a AI-month old boy with a hemangioma involving the tongue. Sagittal FSEIR T2-weighted image demonstrates the
tumor involving the anterior half of the tongue. It is isointense with brain and contains flow voids (arrow). b The patient
developed spontaneous hemorrhage from the tumor and underwent transarterial embolization. Selective injection of the right
lingual artery prior to embolization reveals a hypervascular mass with some puddling of contrast
Vascular Lesions of the Head and Neck in Children
ized by a progressive decrease in size, an increasing
proportion of fibrofatty matrix with associated Tl-
shortening, reduction in vascularity and a relative
decrease in enhancement.
Angiography. Angiography is occasionally performed
in cases where endovascular therapy is indicated.
Proliferating hemangiomas appear as well-circum-
scribed masses with a lobular architecture and
intense and persistent tissue staining (BURROWS et
a1. 1983) (Fig.20.7b). The lobules are separated by
linear or patchy radiolucencies. Arterial supply is
from multiple slightly enlarged branches originat-
ing from normal adjacent arteries. Sometimes these
feeding arteries form an equatorial network at the
periphery of the mass, with smaller feeding arteries
travelling into the lesion at right angles to the periph-
eral vessels. Regional veins may appear dilated, but
arteriovenous shunting is not usually demonstrated
angiographically (BURROWS et a1. 1983).
20.2.1.4
Differential Diagnosis
The diagnosis of hemangioma is usually made on the
basis of the history and clinical examination. A deep
hemangioma can occasionally be confused clinically
with a vascular malformation. However, in these cases,
the distinction between hemangioma and venous or
lymphatic malfomation is usually readily made with
MRI. A macular hemangioma can be confused on
clinical examination with a capillary malformation
and, due to the superficial nature of the lesion, the cor-
rect diagnosis may not be readily discerned with MRI.
Occasionally an extensive hemangioma can be asso-
ciated with shunting of considerable blood mimick-
ing an AVM (MULLIKEN et a1. 2000). Although both
hemangioma and AVM are associated with prominent
vascularity, MRI will usually demonstrate a lobulated
mass associated with hemangioma as compared with
reactive or trophic changes associated with AVM. Pyo-
genic granuloma can be mistaken for hemangioma
(FRIEDEN and ESTERLY 1992), but lacks high-flow vas-
cularity on MRI. Other tumors of infancy that have
been confused with hemangioma include tufted angi-
oma (JONES and ORKIN 1989),kaposiform hemangio-
endothelioma, hemangiopericytoma (CHUNG et a1.
1995) and fibrosarcoma (BOON et a1.1995). If there is
suspicion of malignancy, biopsy is mandatory. There
are also uncommon vascular tumors in adults that are
labelled by pathologists as hemangioma or hemangio-
endothelioma. However, these tumors do not regress
spontaneously (MULLIKEN et a1. 2000).
273
20.2.1.5
Treatment
Because of their anticipated involution, most hem-
angiomas do not require medical therapy or surgical
intervention. However, treatment may be indicated
for tumors that are deforming, causing anatomic dis-
tortion or obstruction, ulceration or life-threaten-
ing heart failure. Examples of endangering hemangio-
mas are those that interfere with vision or breathing.
When antiangiogenic medical therapy is indicated,
corticosteroids provide the first line of treatment and
may be administered either orally or by intralesional
injection in order to stabilize the hemangioma or
accelerate regression. Interferon-a is the second-line
of treatment and is reserved for endangering or life-
threatening hemangiomas. The drug is administered
daily via the subcutaneous route in order to promote
involution. The major complication of interferon-a
therapy is spastic diplegia, which occurs in approxi-
mately 5% of patients.
Surgical resection during the proliferative phase
is indicated for hemangiomas that interfere with
vision or breathing, or produce refractory ulceration
or bleeding. Pulsed-dye laser therapy may alleviate
painful ulceration. Embolization may provide adjunc-
tive therapy by reducing vascularity in an effort to
decrease high-output cardiac failure.
20.2.2
Kaposiform Hemangioendothelioma
20.2.2.1
Clinical Features
Kaposiform hemangioendothelioma (KHE) is an
uncommon, aggressive but benign vascular tumor
that is distinct from hemangioma. The tumor is noted
at birth in 50% of patients, and arises during infancy
in the remainder of patients (SARKAR et a1. 1997).
KHE enlarges rapidly with tenderness, induration,
cutaneous purpura, edema and an advancing, poorly
defined ecchymotic margin (ENJOLRAS et a1. 2000).
KHE is frequently complicated by Kasabach-Merritt
syndrome and the mortality rate in patients with
KHE is 24% (SARKAR et a1. 1997). Platelet counts are
typically less than 20,000, and spontaneous bleeding
may occur, including intracranial hemorrhage.
The etiology of KHE is unknown, but the disease
has no known association with the Kaposi's sarcoma
related to human immunodeficiency virus infection,
and demonstrates aggressive local behavior with
 274 C. D. Robson

invasion but not distant metastasis (VIN-CHRISTIAN
et al. 1997). Unlike hemangioma, residual lesions fol-
lowing treatment are common and probably rep-
resent dormant vascular tumors (ENJOLRAS et al.
2000).
Light microscopy of KHE reveals irregular lobules
or sheets of poorly formed, small vascular channels
infiltrating and entrapping normal tissues. Charac-
teristic features include spindle-shaped endothelial
cells, diminished pericytes and mast cells, micro-
thrombi, and hemosiderin deposits. Dilated, hyper-
plastic, lymphaticoid channels have also been identi-
fied (SARKAR et al. 1997).
20.2.2.1.1
Imaging
Unlike hemangioma, MRI of KHE reveals diffuse
enhancement with poorly defined margins, cutane-
ous thickening, stranding of subcutaneous fat, signal
voids due to hemosiderin deposits, other blood prod-
ucts or fibrosis, and small feeding and draining
vessels relative to tumor size (SARKAR et al. 1997)
(Fig.20.8a). Imaging of residual lesions reveals a
characteristic pattern of gradual but incomplete
regression of tumor, with streaky enhancement,
thickened areas of skin and subcutaneous fat, or
residual tumor parenchyma (ENJOLRAS et al. 2000)
(Fig. 20.8b). Bony lucency can occur adjacent to KHE
(SARKAR et al. 1997).
20.2.2.2
Differential Diagnosis
KHE is often misdiagnosed as hemangioma. The fol-
lowing features distinguish KHE from hemangioma:
equal gender ratio; predilection for the retroperito-
neum, deep neck, mediastinum, pelvis, upper back,
and limbs; specific cutaneous findings; unifocallesion
with typical MRI findings; morbidity of thrombocy-
topenia and low fibrinogen; and pathologic charac-
teristics (ENJOLRAS et al. 2000). In contrast to heman-
gioma, in KHE angiogenic growth factors basic FGF
and VEGF are generally low (MUELLER and MUL-
LIKEN 1999). Residual tumors following treatment
differ from involuted hemangioma in clinical appear-
ance and behavior, imaging appearance and histo-
pathologic features (ENJOLRAS et al. 2000).
Diffuse hyperintense stranding of the subcutane-
ous tissues on T2-weighted images and a similar

a b

Fig. 20.8a, b. A 2-year-old girl with kaposiform hemangioendothelioma and Kasabach-Merritt phenomenon. a Axial fast spin-
echo (FSE) T2-weighted MRI reveals a poorly marginated, moderately hyperintense submandibular tumor with heterogeous
signal within the subcutaneous fat. There are numerous foci (arrows) of susceptibility artifact attributed to hemosiderin within
the mass. b Four years later, following supportive management and administration of corticosteroids and interferon-a, axial
FSEIR T2-weighted image reveals a signifant decrease in size of the tumor
Vascular Lesions of the Head and Neck in Children
pattern of enhancement on gadolinium-enhanced
images can be seen that resembles infiltrating lym-
phatic malformation or edema (SARKAR et al. 1997).
Tufted angioma (angioblastoma of Nakagawa) is
another vascular tumor that has overlapping histo-
logic features with KHE (LAM et al. 1994; SARKAR et
al.1997). This is a rare, histologically benign subcuta-
neous tumor that may also be complicated by Kasa-
bach-Merritt phenomenon, although less commonly
than KHE (METRY and HEBERT 2000).
20.2.2.3
Treatment
KHE has been treated with variable results using sin-
gle-drug or multimodality regimens that include the
following: interferon-a-2a or -a-2b, systemic corti-
costeroids, vincristine, cyclophosphamide and radia-
tion (SARKAR et al. 1997; VIN-CHRISTIAN et al.
1997; ENJOLRAS et al. 2000). Treatment of Kasabach-
Merritt phenomenon requires pharmacologic agents
that affect hemostasis and sometimes embolization.
Unlike chronic consumptive coagulopathy, for which
heparinization may be beneficial, the administration
of heparin in children with KHE and Kasabach-Mer-
ritt phenomenon has been associated with acceler-
ated tumor growth and sudden subcutaneous hemor-
rhage (SARKAR et al.1997).As a result, heparinization
is contraindicated in these patients. Platelet infusion
is generally also avoided as this may result in plate-
let sequestration with rapid expansion of the lesion
(ROBERTSON et al. 1999). Following treatment resid-
ual vascular neoplasia may be observed. This is not
a stable fibrofatty residuum, as in classic involuted
hemangioma (ENJOLRAS et al. 2000).
20.3
Vascular Malformations
20.3.1
Pathogenesis
Vasculogenesis and angiogenesis are the mechanisms
responsible for the development of blood vessels. Vas-
culogenesis refers to the in situ formation of new blood
vessels from the differentiation of precursor mesen-
chymal cells into endothelial cells, while angiogenesis
refers to the formation of capillaries from pre-existing
vessels in the embryo and adult organism (VIKKULA
et al. 1998; LARRIVEE and KARSAN 2000). Endothelial
differentiation is accompanied by the recruitment and
275
migration of smooth muscle cell precursors to become
the smooth muscle layers of blood vessel walls (NAKA-
MURA 1988). Further development leads to the forma-
tion of arteries, capillaries, veins and lymphatics. The
embryogenesis of lymphatics has been controversial;
however, current experimental data support the con-
cept that lymphatics originate from the venous system
(KAIPAINEN et al. 1995). It has become apparent that
several signalling molecules (e.g., vascular endothe-
lial growth factors, angiopoietins) and their receptors
are critical for the normal embryonic development
of the embryonic vasculature. Vascular malformations
are thought to arise as a result of faulty development
at some stage of either vasculogenesis or angiogen-
esis (MULLIKEN et al. 2000). Although most vascular
malformations are sporadic, a small proportion are
inherited, and the causative genes for several of these
have been elucidated. Molecular studies suggest that
vascular anomalies develop as a result of dysfunc-
tional signalling processes that regulate proliferation
and apoptosis, differentiation, maturation and adhe-
sion of vascular cells (VIKKULA et al. 1998).
20.3.2
Capillary Malformation
20.3.2.1
Clinical Features
The capillary malformation (CM) is a flat pink-red
birthmark that is most commonly found in the head
and neck region. CM should not be confused with
the stork bite nevus or nevus flammeus neonatorum,
a transient macular stain which occurs in 50% of
white newborns (MULLIKEN et al.2000). CMs consist of
dilated capillary-to-venular-sized vessels in the super-
ficial dermis. It has been suggested that a loss of pri-
marily autonomic-origin (sympathetic) nerves in the
vicinity of the CM and a failure to regulate blood flow
results in the progressive vascular ectasia that charac-
terizes these lesions (ROSEN and SMOLLER 1987). CMs
tend to darken and develop fibrovascular overgrowth
over time. There is often associated local soft tissue
and bony hypertrophy (MULLIKEN et al. 2000).
20.3.2.2
Associated Malformations
CMs do not as a rule require imaging per se. How-
ever, CMs can signify serious problems involving the
central nervous system. A midline occipital CM can
overlie a cephalocele and CM over the cervical or
276
lumbar spine can indicate the presence of spinal dys-
raphism or complex high-flow AVM or AVF (e.g.,
Cobb's syndrome) (ENJOLRAS et al. 1992, 1995). The
port-wine stain is a CM that involves the upper tri-
geminal dermatomes (BOUKOBZA et al. 2000; MUL-
LIKEN et aI.2000).About 1%-2% of patients with facial
port-wine stains have seizures and ocular abnormali-
ties constituting Sturge- Weber syndrome (SWS) (BUR-
ROWS et al. 1998b). Radiologically, a leptomeningeal
(pial) capillary and VM typically involving the pari-
eto-occipital area is present. Cerebral atrophy, lep-
tomeningeal or cortical enhancement and gyriform
tram-track calcifications are usually demonstrated.
An ipsilateral enlarged choroid plexus, associated
with abnormal cerebral venous drainage, may be an
early anatomic sign of SWS (BOUKOBZA et al. 2000).
Hereditary hemorrhagic telangiectasia (HHT; Rendu-
Osler-Weberdisease) is characterizedbymucocutaneous
telangiectasias, cerebral arteriovenous shunts, pulmo-
nary AVMs and hepatic vascular anomalies (GUTTM-
ACHER et al. 1995; MULLIKEN et al. 2000). A diagnosis is
firmly established if three of the following criteria are
present: epistaxis, telangiectasia, visceral lesions or an
appropriate family history (SHOVLIN et al. 2000).
20.3.3
Venous Malformation
20.3.3.1
Clinical Features
VMs are present at birth, but the age at presentation
is variable. VMs grow proportionately to the child,
slowly expand and frequently enlarge during puberty
(MULLIKEN et al. 2000). The clinical manifestations
of VMs include symptoms such as swelling and pain,
especially after recumbency. As with other vascular
anomalies, additional symptoms of head and neck
VMs depend on size, location and interference with
normal function. Clinical examination typically
reveals blue or purplish discoloration of the skin and a
soft or spongy mass that is compressible on palpation
(BURROWS et al. 1998b). VMs expand with the Val-
salva maneuver or with dependent positioning. VM
can be single or multifocal, and localized or exten-
sive. Phlebothrombosis produces pain and a mass that
is firm to palpation. Stagnation of blood within a
VM can cause a localized intravascular coagulopa-
thy (platelet counts usually greater than 80,000) with
minor thrombocytopenia (MULLIKEN et al. 2000).
Histopathologically, VMs consist of dysplastic
venous channels that manifest as varicosities and
C. D. Robson
ectasias, localized spongy masses and complex chan-
nels that have variable communications with adjacent
veins (BURROWS et al. 1998b; MULLIKEN et al. 2000).
Microscopically there is often evidence of thrombosis
and pathognomonic phlebolith formation. The ten-
dency for gradual expansion is thought to result from
mural muscular abnormality, based on the obser-
vation that the walls of VMs have variable smooth
muscle thickness and some regions lack smooth
muscle altogether (VIKKULA et al. 1996). A missense
mutation that impacts a signalling pathway critical
for endothelial cell-smooth muscle cell communica-
tion in venous morphogenesis has been identified in
a familial form ofVM (VIKKULA et al. 1996; BOON et
al. 1999). Familial forms ofVMs include familial cuta-
neous mucosal VM, blue rubber bleb nevus syndrome
(cutaneous and gastrointestinal VMs), familial mul-
tiple glomangioma (glomus cells line VM channels)
and cerebral cavernous malformations (with or with-
out cutaneous lesions) (BOON et al. 1994, 1999; MUL-
LIKEN et al. 2000; VIKKULA et al. 1996).
20.3.3.2
Associated Malformations
Midline facial VMs may be associated with intracra-
nial developmental venous anomalies and sinus peri-
cranii (BOUKOBZA et a1.1996; BURROWS et al. 1998b).
A small percentage of VMs have associated AVFs.
Mafucci's syndrome is characterized by multiple
enchondromas associated with venous anomalies.
20.3.3.2.1
Imaging
Although sonographic evaluation is useful to confirm
the diagnosis of VM in most instances, MRI remains
the investigation of choice for demonstrating imag-
ing characteristics and extent of the malformation
(BURROWS et al. 1998b).
Ultrasonography. Either well-circumscribed, sponge-
like vascular spaces or poorly marginated collections
of veins characterize VMs on ultrasound (PALTIEL et
al. 2000) (Fig. 20.9). Venous flow can be documented
by color Doppler and spectral analysis. In some VMs
ultrasound demonstrates isoechoic thickening of the
subcutaneous tissues without a solid mass or discern-
able channels (PALTIEL et al. 2000).
Computed Tomography. The characteristic imaging
feature ofVMs is the development of phleboliths asso-
ciated with phlebothrombosis (Fig. 20.10). Phlebo-
Vascular Lesions of the Head and Neck in Children
Fig.20.9. A 6-month-old boy with a venous malformation
(VM) and recent increase in size and firmness of the lesion.
Transverse sonographic examination of the neck reveals a
bilobed hypoechoic mass containing some internal echoes.
There is partially mineralized echogenic thrombus (arrow)
within the malformation. (Courtesy of Harriet Paltiel, MD,
Children's Hospital, Boston, Mass.)
liths appear as rounded, lamellated, calcific densi-
ties on CT. On CT, since many neck examinations
are obtained as a dynamic procedure with scanning
during the admininistration of contrast, enhance-
ment during the early phase of the study will be het-
erogeneous. Delayed images will show a more homo-
geneous pattern of enhancement.
Magnetic Resonance Imaging. VMs share some imag-
ing similarities with LMs in that the malformation
is cystic and septated and the fluid within the cystic
spaces is markedly hyperintense on long TR images
(Figs. 20.11, 20.12a). Phleboliths appear as circum-
scribed signal voids that should not be confused
with flow voids. Flow-related enhancement indicat-
ing arterial or rapid flow on flow-sensitive pulse
sequences is not a feature of VMs. However, MR
venography may reveal dilated or anomalous veins in
the vicinity of VMs. The fluid within VMs is venous
blood which enhances, unlike the lymph contained
within LMs. The enhancement may appear inhomo-
geneous on Tl-weighted images acquired immedi-
ately after the administration of gadolinium, becom-
ing more homogeneous on subsequent enhanced
images (Fig. 20.12b).
Angiography. Angiography is not usually indicated in
the diagnostic evaluation of VMs but typically shows
either no filling or delayed opacification of the malfor-
mation or sinusoidal spaces with or without dysplastic
draining veins (BURROWS et al.1983). Early filling with
puddling of contrast within venous spaces has been
277
observed in VMs involving the tongue (Fig. 20.13).
Direct percutaneous cannulation and injection of the
VM typically shows interconnecting sinusoidal spaces
and adjacent normal or dilated venous channels (BUR-
ROWS et al. 1998b) (Fig. 20.14). In cases of midline
facial VM where sinus pericranii may be present, cere-
bral angiography should be performed to evaluate the
venous drainage of the brain (Fig. 20.15).
20.3.3.3
Differential Diagnosis
The erroneous diagnosis using the term cavernous
hemangioma frequently leads to the institution of
inappropriate antiangiogenic drug therapy and sub-
sequent therapeutic failure (BURROWS et al. 1998b).
However, the clinical and imaging features of VM
are distinct from those of true hemangioma (see
above).
20.3.3.4
Treatment
The treatment ofVMs includes the use of elastic com-
pressive garments, aspirin, percutaneous sclerother-
apy and surgical resection (BURROWS et al. 1998b;
MULLIKEN et al. 2000). Unlike proliferating heman-
giomas, antiangiogenic therapy is ineffective for the
treatment ofVMs (BURROWS et al. 1998b). Direct per-
cutaneous sclerotherapy using fluoroscopic guidance
is the preferred treament for VMs in some centers
(YAKES et al. 1990; DUBOIS et al. 1991; DE LORIMIER
1995; BERENGUER et al. 1999). The common scle-
rosants are absolute ethanol and sodium tetradecyl
sulfate. Sclerotherapy results in thrombosis and grad-
ual decrease in size of the VM and is considered
safe and effective treatment for craniofacial VMs,
although results are variable and multiple treatments
may be required (BERENGUER et al.1999; BURROWS et
al. 1998b). Complications of craniofacial sclerother-
apy include acute blistering, hemoglobinuria, deep
ulceration and transient or permanent nerve injury
(e.g., producing facial paresis or vocal cord paraly-
sis) (BERENGUER et al. 1999). Legal intoxication has
also occasionally been documented following sclero-
therapy (MASON et al. 2000).
Although excision of a small, well-localized VM is
usually successful, preoperative sclerotherapy is pre-
ferred for lesions in which surgical therapy is indi-
cated (BERENGUER et al. 1999; MULLIKEN et al. 2000).
For extensive VM of the airway, staged therapy with a
combination of sclerotherapy and photocoagulation
has been advocated (OHLMS et al. 1996).
 278 C. D. Robson

Fig. 20.10a, b. A 7-year-old boy with a left masticator space VM. a Axial
contrast-enhanced CT images reveal heterogeneous enhancement in the VM
within the left masseter muscle (arrow). A phlebolith (arrowhead) is present
in the vicinity of the left parapharyngeal space. b Delayed coronal CT reveals
homogeneous enhancement of the VM (arrow)

Fig. 20.11. A 13-year-old girl with a large VM within the masti-

cator space. Coronal FSEIR T2-weighted MRI shows the hyper-
intense VM containing numerous hypointense foci represent-
ing phleboliths (arrow)
 Vascular Lesions of the Head and Neck in Children 279

Fig.20.12a, b. A 21-year-old woman with a left facial and sub-

mandibular VM and recent development of firm sublingual
swelling and tenderness. a Axial FSEIR T2-weighted image
reveals markedly hyperintense fluid-filled spaces and a small
phlebolith (arrow). b Contrast-enhanced, fat-suppressed coro-
a nal CSE TI-weighted MRI demonstrates the enhancing VM in
the left masticator space. There is thrombus in sublingual VM

Fig. 20.13. A 4-year-old girl with a VM involving the tongue.

Seective injection of the lingual artery shows early puddling
of contrast in venous spaces, a feature of VMs that involve the
tongue

Fig. 20.14. An 8-year-old girl with a venous malformation of

the right anterior part of the neck. A direct intralesional injec-
tion of contrast prior to percutaneous sclerotherapy demon-
strates a fusiform varix involving the right external jugular
vein, with a normal appearance of the vein inferiorly
 280
a or intraorbital LMs may interfere with vision. LMs
b and mandibular region. Infection and hemorrhage are
Fig. 20.15a, b. An 18-month old boy with a midline VM of
the forehead. a Axial contrast-enhanced CT reveals the small,
enhanceing VM (arrowhead) within the frontal subcutaneous
tissues. A small vessel can be seen coursing toward a notch in
the inner table (arrow). b Venous phase of a selctive internal
carotid arteriogram reveals a sinus pericranii (arrows)
C. D. Robson
20.3.4
Lymphatic Malformation
20.3.4.1
Clinical Features
LMs consist of endothelial-lined lymphatic chan-
nels filled with protein-rich fluid. The walls contain
abnormally formed smooth and skeletal muscle ele-
ments with collections of lymphocytes (MULLIKEN
et al. 2000). LMs may be detected antenatally but
usually present at birth or within the first 2 years of
life. A previously occult LM may first present later
in childhood or adulthood with a sudden increase in
size due to hemorrhage or infection. LM of the head
and neck usually presents as a mass and/or alteration
of function from mass effect on vital structures. The
skin overlying a LM can be normal or have a capil-
lary stain, cutaneous blebs or vesicles (MULLIKEN et
al. 2000). As with the other vascular anomalies, signs
and symptoms of LMs vary with location. Periorbital
in proximity to the airway interfere with breathing,
sometimes necessitating tracheostomy. Skeletal dis-
tortion and overgowth is a typical feature of LMs
(BOYD et al. 1984). This has correlated with the pres-
ence of abnormal lymphatic channels within hyper-
trophied cancellous mandibular bone in some cases
of cervicofacial LMs (PADWA et al. 1995).
Depending of the size of the cysts, LMs may be char-
acterized as microcystic, macrocystic or mixed (MUL-
LIKEN et al. 2000). LM can manifest as a localized mass
that is cystic to palpation and transilluminates. How-
ever, unlike VMs, LMs cannot be manually decom-
pressed (BURROWS et al. 1998b). Some LMs are more
solid or spongy to palpation or manifest as diffuse
infiltration and overgrowth of the affected region. Mac-
roglossia and overgrowth of the mandible with dental
malocclusion can be seen with LMs of the oral cavity
the most frequent complications of LMs and are usu-
ally accompanied by a sudden increase in size of the
lesion. Relatively minor trauma can provoke hemor-
rhage. Infection of LMs may accompany upper respira-
tory tract infections. Progressive osteolysis caused by
diffuse soft tissue and skeletal LMs is termed Gorham-
Stout syndrome (MULLIKEN et al. 2000).
20.3.4.2
Associated Malformations
Most LMs are sporadic but the malformation can
occur as part of a syndrome. Fetal LMs are often asso-
Vascular Lesions of the Head and Neck in Children
ciated with fetal hydrops or demise. Approximately
73% of fetal LMs are associated with Turner's syn-
drome (45XO) (CHERVENAK et al. 1983). Approx-
imately 60% of patients with Turner's syndrome
have LMs (GREENLEE et al. 1993). From about
10-14 weeks' gestation, nuchal subcutaneous fluid
accumulation can be seen sonographically as mas-
sively increased hypoechoic nuchal thickness. This
has been found to be associated with hypoplastic
lymphatic vessels in the upper dermis (VON KAISEN-
BERG et al. 1999). Other syndromes associated with
LMs include Noonan's syndrome, trisomy 21, trisomy
13, trisomy 18 and lethal multiple pterygium syn-
drome (CHERVENAK et al. 1983; AZAR et al. 1991).
An association between periorbital LM and intracra-
nial developmental venous anomalies and dural arterio-
venous fistulas has been noted (ROBERTSON et al.1999).
20.3.4.2.1
Imaging
The choice of imaging modality depends on the
information required. MRI produces superior soft
tissue contrast and tissue characterization and is gen-
erally considered the imaging modality of choice.
MRI is superior to CT and ultrasonography in diag-
nosing LM. MRI is also preferred for delineating
the extent of tissue involvement and differentiating
macrocystic and microcystic components. However,
where the clinical diagnosis of macrocystic LM is
known, ultrasound or CT may be the first examina-
tion requested and will yield the diagnosis in most
cases. The appearance of LM on imaging depends
on the size of the lymphatic spaces and on the pres-
ence of hemorrhage or infection. Like VM, LM has a
tendency to involve multiple fascial compartments.
The lesions are generally cystic and septated. A very
characteristic feature of LMs that can be seen on
ultrasound, CT and MRI is the presence of fluid-fluid
levels. Large and/or anomalous venous channels are
often seen in the vicinity of an LM, and communica-
tion between the LM and adjacent veins is frequently
present (BURROWS et al. 1998b).
Ultrasonography. Macrocystic LMs and hypoechoic
nuchal thickening detected with antenatal ultrasonog-
raphy should prompt careful sonographic evaluation of
the entire fetus, fetal karyotype determination and an
evalution of family history (CHERVENAK et al. 1983).
Postnatal ultrasonography of macrocystic LM
reveals a uni- or multilocular cystic mass that may
contain echogenic debris (Fig. 20.16). Color Doppler
ultrasonography with spectral analysis demonstrates
281
Fig.20.16. A 13-year-old boy who presented with a tender
neck mass and was found to have an infected LM. Longitudi-
nal sonogram reveals a hypoechoic mass (asterisk) containing
internal echoes. The sonographic findings were felt to indicate
either an abscess or infected LM. Purulent material was aspi-
rated and an LM was resected 2 months later. (Courtesy of
Harriet Paltiel, MD, Children's Hospital, Boston, Mass.)
small arteries and veins in the cyst walls with inter-
vening stroma (PALTIEL et al. 2000). Microcystic LMs
appear hyperechoic because of numerous interfaces
(DUBOIS and GAREL 1999).
Computed Tomography. On CT the fluid within the
malformation usually appears hypodense, but den-
sity varies with protein content and blood products
(Figs. 20.17,20.18). Fluid-fluid levels are sometimes
seen (Fig. 20.18). The cyst walls and septations
enhance following the administration of contrast.
Inflammatory changes with stranding of the subcu-
taneous fat can be seen if the lymphatic malforma-
tion is infected. However, diagnosis of infection is
extremely difficult by imaging.
Magnetic Resonance Imaging. If a multicystic neck
mass is diagnosed by antenatal ultrasonography, fur-
ther imaging with fetal MRI may be obtained for
diagnostic purposes and to provide further ana-
tomic information including airway assessment. The
half-Fourier single shot turbo spin-echo (HASTE) or
single shot fast spin-echo (SSFSE) pulse sequence
has been favored for use in fetal imaging as it pro-
vides better delineation of masses than other pulses
sequences because of decreased motion artifacts
(HUBBARD et al. 1998).
On MRI the appearance of LMs depends on the
architecture of the lesions (macrocystic, microcystic
or combined) and on the presence of complications
such as hemorrhage or infection. The signal intensity
282
Fig. 20.17. A baby with right cervicofacial LM. Contrast-
enhanced CT demonstrates a hypodense, non-enhancing mass
involving multiple fascial compartments
Fig. 20.18. A 20-month-old girl with a I-day history of a large,
non-tender left neck mass. Axial contrast-enhanced CT reveals
fluid-fluid levels (arrows) within a hypodense neck mass with
displacement of the left mandible. The dependent fluid is
relatively hyperdense, consistent with hemorrhage. There is
enhancement of septations between the fluid-filled spaces These
findings indicate an LM complicated by internal hemorrhage
of the fluid within the malformation on Tl-weighted
MRI is variable (Figs. 20.19,20.20). On T2-weighted
images the fluid usually appears markedly hyperin-
tense. Depending on the time interval since hemor-
rhage, blood breakdown products produce Tl and T2
C. D. Robson
shortening or T2 prolongation. High-flow vascular
signal voids and flow-related enhancement are not a
feature of LMs (ROBERTSON et al. 1999). Following
the administration of contrast medium, the septa-
tions within and around the malformation enhance
but the fluid contained within the cystic space does
not (Fig. 20.20b).
Angiography. Angiographically LMs are typically
avascular masses with distortion of adjacent vessels.
Dilated and/or anomalous veins may be present.
An unusual pattern of early filling of multiple tiny
veins (thought to be from microscopic arteriovenous
shunting) and puddling of contrast in venous chan-
nels has been observed in lymphaticovenous malfor-
mations of the tongue (ROBERTSON et al. 1999).
20.3.4.3
Differential Diagnosis
The main differential diagnosis for multiseptated mac-
rocystic lesions is teratoma in the fetus or newborn
and VM. The presence of fluid-fluid levels, lack of fluid
enhancement and absence of phleboliths differentiate
LM from VM. Depending on location, a unilocular LM
may require differentation from other cysts such as
pharyngeal cleft cyst, thyroglossal duct cyst, dermoid
cyst or ranula. Microcystic LMs produce more of a
diagnostic dilemma as the cystic spaces may be so
small that the lesion appears more diffusely enhanc-
ing. In this situation differentiating between LM and
Fig. 20.19. A 3-year-old girl with a sudden enlargement of an
LM within the left neck. Sagittal CSE Tl-weighted MRI reveals
hyperintense fluid with a fluid-fluid level (arrow) within the
hemorrhagic LM
 Vascular Lesions of the Head and Neck in Children 283

a b

Fig.20.20a, b. A 2-year-old girl with a submandibular mass. a Axial FSEIR T2-weighted MRI shows both macrocystic (arrows)
and microcystic (arrowheads) components. Hemorrhage into one of the cysts is present (asterisk). b Axial fat-suppressed CSE
Tl-weighted image shows lack of enhancement in the LM. The hemorrhage appears hyperintense (asterisk)

VM can be more challenging. A congenital lesion in
which there is any suggestion of a diagnosis other than
LM or VM should be biopsied in order to exclude a
tumor such as teratoma or congenital fibrosarcoma
(HAYWARD et al. 1995). Sometimes LM appears more
diffusely infiltrating with overgrowth of local tissues,
such the muscles of mastication and mandible. Strand-
ing of the subcutaneous fat around a LM may be due
to impaired lymphatic drainage or inflammation. In
some cases LM can mimic a multiloculated abscess
or granulomatous disorder such as non-tuberculous
mycobacterial infection.
20.3.4.4
Treatment
The treatment of LM includes the administration of
antibiotics for infection and surgical resection. Cervi-
cofacial LMs require extensive staged surgical excision.
Postoperative complications and residual or recurrent
disease occur frequently. In addition, skeletal over-
growth tends to persist and progress despite multiple
operative procedures (PADWA et al.1995).Aspiration of
fluid from a macrocystic LM provides only temporary
relief (MULLIKEN et al. 2000). Intralesional injection of
sclerosants (e.g., absolute ethanol, sodium tetradecyl
sulfate, doxycycline) is usually more effective for mac-
rocystic LMs, but generally less so than for VMs (ROB-
ERTSON et al.1999; MULLIKEN et al. 2000). Intralesional
injection of OK-432 (a killed strain of group A Strep-
tococcus pyogenes) has been used to treat macrocystic
LMs and may ameliorate osteolysis (OGITA et al. 1994,
1998, 1991). OK-432 is not currently approved by the
United States Food and Drug Administration.
20.3.5
Arteriovenous Malformation
20.3.5.1
Clinical Features
Head and neck extracranial AVMs and AVFs are
uncommon high-flow vascular malformations that
consist of abnormal connections between arteries
and veins. AVMs have an abnormal mesh of small ves-
sels (nidus) linking the feeding and draining vessels.
AVFs consist of macroscopic connections between
the feeding and draining vessels and lack a nidus.
Although AVMs are congenital lesions that are pres-
ent at birth, they may not initially be clinically evident
(KOHOUT et al.1998). Over time signs such as a deep-
ening cutaneous stain, local warmth, thrill or bruit
develop. Enlargement can be triggered by puberty,
pregnancy, hormonal therapy or trauma (BURROWS
et al. 1998b; MULLIKEN et al. 2000). Additional signs
284
and symptoms include pain, ischemic changes, defor-
mity with osseous overgrowth, intractable ulceration
and bleeding. AVFs may be congenital or acquired
due to blunt or penetrating injury. Increased cardiac
output can be seen with large AVMs or AVFs.
20.3.5.2
Associated Malformations
20.3.5.2.1
Imaging
Ultrasonography. Unlike hemangiomas, AVMs are
characterised by absence of a parenchymal mass.
Colour Doppler US with spectral analysis is used to
demonstrate multiple enlarged subcutaneous arteries
and veins (PALTIEL et al. 2000). High-flow, low-resis-
tance arteries and an arterialized waveform within
draining veins are characteristic of AVMs and AVFs
Computed Tomography. On CT,AVMs appear as highly
enhancing lesions with numerous dilated feeding and
efferent vessels and without persistent tissue staining
(DUBOIS and GAREL 1999). Trophic changes may be
seen in tissues in the vicinity of the AVM, including
sclerosis and/or lysis of bone (BURROWS et al. 1998b).
Magnetic Resonance Imaging. The enlarged feeding and
draining vessels appear as serpiginous flow voids on
Fig. 20.21. A 24-year-old female with a left facial AVM. Axial
collapsed maximum-intensity-projection image from a time-
of-flight MR angiogram shows enlarged branches of the left
facial artery and a vascular nidus (arrow)
C. D. Robson
spin-echo MRI and demonstrate flow-related enhance-
ment on gradient-echo pulse sequences (Fig. 20.21).
Depending on the size of channels, the nidus is not
always demonstrated (BURROWS et al. 1998b). Although
a parenchymal tumor mass is not a feature of AVMs,
some signal abnormalities, possibly related to fibrofatty
matrix or edema, may be evident. In addition, increased
thickness of perilesional fat, increased size and signal
abnormality within affected muscles, and cortical or
medullary space bony changes with abnormal signal
may be seen (BURROWS et al. 1998b) (Fig. 20.22).
Angiography. The angiographic features of AVM
include dilatation and tortuosity of feeding arteries,
depiction of a mesh of small vessels constituting
the nidus, arteriovenous shunting and dilatation of
draining veins (Fig.20.23). In young children the
nidus is not always demonstrated (BURROWS et al.
1998b). AVF may be demonstrated in isolation or in
association with AVM (Fig. 20.24).
20.3.5.3
Differential Diagnosis
Perilesional reactive changes may simulate vascular
tumors (Fig. 20.22). However, the reactive changes
associated with AVMs tend to have ill-defined, fading
borders as compared with the well-marginated bor-
ders of most tumors (ROBERTSON et al. 1999).
20.3.5.4
Treatment
Treatment of AVMs is indicated for symptomatic
lesions and may be surgical, endovascular or com-
bined. Cure is difficult to achieve and is effected only
by complete surgical resection or embolization of the
nidus (BURROWS et al.1987; WIDLUS et al.1988; GOMES
1994). Surgical ligation or proximal embolization of
feeding vessels should never be performed as flow is
rapidly recruited to supply the nidus from neighbor-
ing arteries and subsequent access for embolization
will be impaired (MULLIKEN et al. 2000).
Selective catheterization with particle emboliza-
tion may temporarily improve symptoms and can be
used preoperatively (ROBERTSON et al. 1999). Super-
selective catheterization with intranidal deposition
of permanent occlusive materials may alleviate or
decrease symptoms (BURROWS et al. 1987; WIDLUS
et al. 1988; GOMES 1994). Permanent ablation with
100% ethanol has also been reported as efficacious
in the treatment of symptomatic AVMs (YAKES et al.
1989,1990).
Vascular Lesions of the Head and Neck in Children 285

Fig. 20.22. A 19-year-old male with a left facial AVM. Coronal

contrast-enhanced CSE Tl-weighted MRI reveals a large flow
void (arrows) representing a draining vein. There are trophic
changes with enlargement and enhancement of the muscles of a
mastication (asterisk)

b
Fig. 20.24a, b. A newborn girl presenting with right propto-
sis. a Axial fat-suppressed Tl-weighted MRI shows a promi-
nent flow void (arrow) due to an enlarged superior ophthalmic
vein. b Lateral digital subtraction angiogram of a right middle
meningeal artery injection shows a single hole fistula between
the middle meningeal artery and the anterior part of the cav-
ernous sinus (arrow)

Fig.20.23. A 25-year-old female with a left ear AVM. Selec-

tive injection of the left posterior auricular artery shows a
hypervascular lesion with arteriovenous shunting and early-
draining veins (arrow)
286
Unlike many AVMs, congenital AVF is generally
considered curable by appropriate endovascular pro-
cedures and should usually be treated at the time of
diagnosis (ROBERTSON et al. 1999).
20.3.6
Combined Vascular Malformation
Combined vascular malformations consist of com-
binations of lymphatic, venous, capillary or arterial
malformations with imaging features reflecting the
various components (Figs.20.25, 20.26). Somes of
these malformations have an eponymous desig-
nation, but these generally involve limbs or the
trunk. For example, Klippel-Trenaunay syndrome is
a combined capillary-lymphatico-venous malforma-
tion with soft tissue and skeletal overgrowth. Proteus
syndrome is an uncommon sporadic condition char-
acterized by the following major diagnostic features:
verrucous nevus, lipomas and lipomatosis, macro-
cephaly, and asymmetric limbs with partial gigan-
tism of hands and or feet (COHEN 1988, 1999; BIE-
Fig. 20.25. A 16-year-old girl with a history of severe perinatal
congestive heart failure due to occipital dural AVM requiring
emergent surgical repair in infancy, who presented with
acute onset of proptosis. Coronal Ii-weighted MRI shows a
mixed orbitallymphatico-venous malformation with intraos-
seous involvement of the greater wing of the sphenoid bone
(arrow)
C. D. Robson
Fig. 20.26. A 2-year-old girl with lymphatico-venous malfor-
mation of tongue and submandibular space who presented
with spontaneous oral hemorrhage. A sagittal fat-suppressed
Tl-weighted image shows a mixed low-flow malformation
with enhancement in the venous portion of the lesion (aster-
isk) and septal enhancement around the macrocysts (arrow)
of the lymphatic component. The patient was hyperextended
and required tracheostomy to alleviate airway obstruction
SEeKER et al. 1999; MULLIKEN et al. 2000). The
vascular malformations in this condition include CM,
LM, capillary-venous malformation, AVM and capil-
lary-lymphatico-venous malformation (BURROWS et
al. 1998b). Combined malformations are also a fea-
ture of Parkes- Weber syndrome (complex-combined
fast-flow vascular anomalies, capillary-arteriovenous
malformation or fistula, capillary-lymphatico-arte-
riovenous malformation); Bannayan-Riley-Ruval-
caba syndrome (macrocephaly, lipomas, gastrointes-
tinal polyps, Hashimoto's thyroiditis, penile macules
and vascular malformations), Hereditary Hemor-
rhagic Telangiectasia, and Sturge- Weber syndrome
(BURROWS et al. 1998b; MULLIKEN et al. 2000).
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21 Role of Videofluoroscopy
S.McMAHON
CONTENTS
21.1 Assessment of Children with Dysphagia 289
21.1.1 The Normal Swallow 289
21.1.2 Assessment of Dysphagia 289
21.1.3 Videofluoroscopy Procedure 290
21.1.4 Videofluoroscopy Interpretation 290
21.1.5 Summary 291
21.2 Assessment of Children
with Velopharyngeal Incompetence 292
21.2.1 Normal Speech Production 292
21.2.2 Speech Problems Associated
with Velopharyngeal Incompetence 292
21.2.3 Palate Function During Speech 293
21.2.4 Videofluoroscopy Procedure 293
21.2.5 Videofluoroscopy Interpretation 295
21.2.6 Summary 295
References 295
21.1
Assessment of Children with Dysphagia
Disorders of feeding and swallowing are common
in children with neurodevelopmental disabilities,
and comprehensive objective assessment followed by
ongoing and periodic reassessment is essential to the
appropriate management ofthese children (SULLIVAN
and ROSENBLOOM 1996). Additional groups of chil-
dren presenting with dysphagia include those with
structural abnormalities of the head and neck (e.g.,
cleft palate, tracheomalacia), premature infants and
those with respiratory disease.
A variety of methods of assessing swallowing have
been described, including observational assessments,
ultrasonography (BU'LOCK et al. 1990), flexible endos-
copy (KIDDER et al. 1994) and analysis of swallowing
sounds by cervical auscultation (VICE et al. 1990).
While all methods have their advantages and dis-
advantages, videofluoroscopic studies of swallowing,
as described by LOGEMANN (1986) and others, are
widely acknowledged as the gold standard in assess-
S.McMAHON
Speech Therapist, Alder Hey Children's Hospital, Eaton Road,
Liverpool 112 2AP, UK
ing swallowing. Videofluoroscopic studies should
provide a description of the nature of the swallow-
ing difficulty and identify therapeutic strategies or
dietary modifications that can guide the future man-
agement of the child (GRIGGS et al. 1999).
21.1.1
The Normal Swallow
In normally developing infants, mature, independent
eating and drinking skills develop rapidly during the
first years of life, with rapid progression from breast
or bottle feeding to the biting and chewing of solid
foods. Mature swallowing involves the control of the
oral preparatory, oral, pharyngeal and oesophageal
phases of swallowing (LOGEMANN 1983) as well as
the co-ordination of breathing and swallowing.
The oral preparation stage is under voluntary con-
trol and involves the preparation and manipulation
of the food bolus. There is no true oral preparatory
stage in very young infants, other than the rooting
reflex and latching on to the teat or breast (ARVED-
SON 1998).
The oral stage involves the elevation of the tongue
tip, posterior propulsion of the bolus and triggering
of the reflex swallow. The pharyngeal stage is initi-
ated by elevation of the soft palate, preventing naso-
pharyngeal reflux of the bolus. Closure of the epiglot-
tis and vocal cords and laryngeal elevation prevents
penetration of material into the airway. Relaxation
of the cricopharyngeal muscle indicates the begin-
ning of the oesophageal phase and allows the bolus to
enter the oesophagus and transit to the stomach by
peristalsis.
21.1.2
Assessment of Dysphagia
The benefits of a multidisciplinary approach to the
management of children with disorders of feeding
and swallowing are well described (COURIEL et
290
al. 1993). Assessment should include evaluation of
the child's neurological, respiratory and nutritional
status and observation of the child's feeding behav-
iour. These assessments can suggest that a child is
at risk of aspiration, but more objective assessment
is required to demonstrate the nature and degree
of this risk and to evaluate the potential benefits of
therapeutic interventions.
Observational assessment should include a
description of the child's seating and positioning,
utensils used and food types presented. Assessment
of oral motor skills should be carried out with
reference to the child's age and developmental
status. Observation of coughing and choking events
may indicate that videofluoroscopic investigation is
required, but in the absence of these symptoms other
factors such as recurrent respiratory symptoms or an
abnormal chest X-ray may indicate the occurrence of
silent aspiration.
21.1.3
Videofluoroscopy Procedure
During videofluoroscopic assessment children should
be fed in a manner as similar to their normal feeding
regimen as possible. This includes the presence and
involvement of the child's parent or familiar carer
and appropriate positioning, utensils and food tex-
tures.
Infants and children normally eat and drink in a
semi-reclined or upright position. Swallowing stud-
ies cannot be conducted adequately with children
supine. The child should be positioned as closely to
the normal feeding position as possible. For infants
and children with significant physical disabilities
this may be a semi-reclined position. However, care
should be taken to ensure that the child's head and
neck are in alignment, the hips and knees flexed at
90° and the head is slightly forward in the "chin tuck"
position.
Where there is disagreement between parents and
professionals about appropriate feeding position, the
study can be used to demonstrate the influence of
positioning on a child's ability to swallow safely.
Modern imaging suites allowing the child to be
seated in his or her own wheelchair or prescribed
seating equipment are ideal, but where this is not
available, seating which supports and positions the
child in alignment, with head well supported if nec-
essary, should be used (Fig. 21.1). Children are nor-
mally screened in the lateral projection, and continu-
ous rather than intermittent fluoroscopy is essential
S. McMahon
Fig. 21.1. Child in adapted seat positioned for assessment
to allow for the assessment of pooling of feed and
transit times.
Assessment should aim to provide a description
of the food consistencies that the child is able to
swallow safely. Each child should be offered a variety
of food consistencies, usually commencing with the
food type the child is likely to manage most easily.
Pureed or semi-solid foods are usually the easiest
consistency for children with swallowing impair-
ments, with thin fluids such as juice being the most
difficult. The use of proprietary thickening agents
such as Carobel or Thick & Easy, added to standard
fluids to increase the viscosity, can contribute sig-
nificantly to the management recommendations for
some children.
Where there is evidence of laryngeal penetration
or aspiration, it is important to note the presence and
effectiveness of the child's cough reflex.
21.1.4
Videofluoroscopy Interpretation
Abnormalities of the oral preparatory phase may
include difficulties in introducing food or fluids into
the mouth, due for example to clenching of the teeth
or loss of the bolus due to a lack of lip closure.
Problems in the oral phase of the swallow result in
poor formation and manipulation of the bolus and
may result in prolonged oral transit times. Oral tran-
sit time is defined as the time taken from the initi-
ation of the tongue movements that begin the oral
phase of the swallow until the pharyngeal swallow is
triggered (LOGEMANN 1986).
Role of Video- Fluoroscopy
Inefficient tongue movements can also result in
"piecemeal deglutition", where only a small portion
of the bolus is swallowed at a time and repeated swal-
lows are required to clear the oral cavity.
Poor control of the bolus places the child at risk
of aspiration as material may fall into the airway or
lodge in the valleculae or piriform fossa, where there
is then a risk of aspiration during inhalation.
As the pharyngeal stage begins, nasopharyngeal
reflux of material indicates poor function of the soft
palate (Fig. 21.2). Again, the child is at risk of aspira-
tion as the material may fall into the airway when the
soft palate lowers. In addition, the unpleasant sensa-
tion of nasopharyngeal reflux may result in sneezing
and distress.
Fig. 21.2. Nasopharyngeal aspiration occurring during the
swallow
Delay in triggering a reflex swallow also increases
the risk of aspiration, particularly with liquids
(ARvEDsoN et al. 1994) as fluid spills into the open
airway. Pharyngeal incoordination can result in aspi-
ration during the swallow, with thin fluids again pre-
senting a greater risk.
A delay in the initiation of the reflex swallow leads
to pharyngeal pooling of material and may be due
to pharyngeal incoordination or a cricopharyngeal
problem (ARvEDsoN 1998).Again, there is significant
risk of aspiration, particularly of fluids. Pharyngeal
transit is usually rapid, with normal pharyngeal tran-
sit time less than 1 s.
"Laryngeal penetration" refers to the entry of
material into the larynx below the level of the true
291
vocal cords. However, laryngeal elevation, vocal cord
adduction and/or coughing expel the material and
aspiration does not occur. The frequency of laryn-
geal penetration during the study and the speed with
which laryngeal clearance occurs can help to indicate
the degree of aspiration risk.
Aspiration into the trachea may occur before,
during or after the swallow. The frequency, timing of
aspiration and the texture of material involved have
a significant influence on future management. The
presence or absence of coughing is also an important
factor. Aspiration before the swallow usually relates to
poor tongue control and impaired pharyngeal motil-
ity. Aspiration during the swallow occurs with prob-
lems of vocal cord adduction, laryngeal elevation and
lack of co-ordination of breathing and swallowing,
while aspiration after the swallow usually relates to
problems with bolus propulsion, laryngeal elevation
and pharyngeal motility.
21.1.5
Summary
Videofluoroscopy studies provide an objective
description of the child's swallowing at a specific
point in time. The results need to be interpreted
in conjunction with the information available from
other assessments.
Recommendations are made on the basis of all
information available. Where there is clear evidence
of aspiration with all consistencies, alternatives to
oral feeding may need to be considered. Some chil-
dren may require a combination of oral feeding, typ-
ically of semi-solid foods, with fluids administered
via a non-oral route, while thickening oral fluids may
adequately protect some children from the pulmo-
nary consequences of aspiration.
Some children will present with evidence of
impaired swallowing function but without frank aspi-
ration. Factors which place the child at risk of aspi-
ration as described above need to be evaluated with
reference to the child's respiratory and general health
status so that appropriate management strategies and
treatment can be recommended.
Children with dysphagia may have persistent prob-
lems with feeding and swallowing, but these are not
necessarily static. Developmental progress may lead
to an improvement in the control and co-ordination
of swallowing, while the skills of those with degener-
ative conditions are likely to deteriorate. Repeat stud-
ies may therefore be required to ensure that recom-
mendations remain appropriate.
292
21.2
Assessment of Children with Velopha-
ryngeal Incompetence
Although modern surgical techniques can produce
excellent results, a proportion of children born with
palatal clefts will develop speech problems. There are
large differences in the reported incidence of such
problems. In addition, submucosal clefts of the soft
palate may not be diagnosed until the child presents
with cleft-type speech problems. Other children have
problems of velopharyngeal function in the absence
of a structural palatal anomaly. Both groups are
likely to have surgical intervention later than those
with overt clefts, and this increases the likelihood of
speech difficulties.
Children with repaired cleft palate and those with
isolated problems of velopharyngeal function can
present with complex disorders of resonance and
speech sound production which may be related to
the inability to control the escape of air through the
nasopharynx during speech.
Children with suspected velopharyngeal problems
require detailed assessment by a specialist speech
and language therapist. This may include both per-
ceptual and instrumental assessment of resonance.
However, while these assessments may indicate the
presence of and describe the severity of such prob-
lems, they cannot explain the cause of such speech
disorders. This can only be achieved through direct
visualisation of the velopharyngeal port through vid-
eofluoroscopic or nasoendoscopic studies.
21.2.1
Normal Speech Production
Accurate interpretation of videofluoroscopic assess-
ment of palate function during speech requires some
understanding of the mechanisms of speech produc-
tion. Speech sounds are each described and defined
by three features: the place and manner of produc-
tion and the presence or absence of voicing. These
features can be used to describe the normal conso-
nants of English but also the speech sound errors
involving the production of non-English speech
sounds that can occur in children with cleft palate
and related speech difficulties.
"Place of production" refers to the point within
the vocal tract where two articulators occlude or
narrow the tract to form a sound. The bilabial sounds
Ip, b, ml are formed by approximation of the lips,
alveolars It, d, nl by approximation of the tongue and
S. McMahon
alveolar ridge and velars Ik, g,l and Ingl as in "sing",
by approximation of the tongue and soft palate.
"Manner of production" refers to the degree of
narrowing or constriction of the oral or pharyngeal
cavities to impede or give friction to the airstream
and the direction of the airstream through the oral or
nasal cavities. Plosive sounds, e.g. Ip, b, t, g/, are pro-
duced when the lips or tongue block the airstream,
causing a build-up of pressure followed by a sudden
release of air. Other non-English sounds can also be
produced in this manner, for example glottal and
pharyngeal sounds produced by constriction of the
airstream at a laryngeal or pharyngeal level. Frica-
tives, e.g. If, v, s, z/, are produced when there is con-
striction of the airway causing friction, and these can
also be produced at a velar, pharyngeal or laryngeal
level, although these sounds are not normally used in
English.
For the nasal sounds 1m, nl and Ingl as in "sing",
the tongue and lips are positioned as for a plosive but
the air is released through the nasal rather than the
oral cavity.
Voiced sounds, e.g. Ib, g, z/, occur when the vocal
cords approximate and vibrate during exhalation and
voiceless sounds, when the cords abduct during exha-
lation.
21.2.2
Speech Problems Associated with Velopha-
ryngeallncompetence
Children with cleft palate and associated problems
can have a variety of speech difficulties, which are
often multifactorial in origin. These can be described
as problems of nasal resonance, nasal emission and
compensatory patterns of articulation (HARDING
and GRUNWELL 1998).A standardised speech assess-
ment protocol such as GOS.SP.ASS (Great Ormond
Street Speech Assessment (SELL et al. 1999) permits
the consistent reporting of cleft-related speech prob-
lems, facilitates both inter- and intra-subject com-
parisons and provides a tool for auditing interven-
tions.
An understanding of the mechanism of speech
sound production facilitates an understanding of the
speech production errors common in children with
cleft-related speech difficulties and is essential for the
comprehensive reporting of videofluoroscopic stud-
Ies.
Some children attempt to compensate for an
inability to produce sufficient intra-oral pressure for
the correct production of oral consonants by altering
Role of Video- Fluoroscopy 293

the place of production, usually posteriorly to a point 21.2.3

where they can produce pressure. Thus, bilabial con- Palate Function During Speech
sonants may be produced as velars, resulting in a lack
of contrast between words such as "pea" and "key", Normal speech is a complex motor act requmng
or some or all oral consonants may be produced at a fine co-ordination of the velopharyngeal mechanism.
non-oral, e.g. glottal or pharyngeal, level. This results Velopharyngeal closure is achieved by the combined
in non-English sounds forming part of the child's actions of the soft palate and the posterior and lat-
sound system. These errors are described as active eral pharyngeal walls. The patterns of velopharyngeal
cleft type characteristics (HARDING and GRUNWELL closure vary between individuals. Four distinct pat-
1998). terns have been described (SKOLNICK et al. 1973).
It is important to distinguish between oral and Coronal: Closure achieved by contact of the soft
non-oral consonant production errors. Children who palate and posterior pharyngeal wall with a little
produce only non-oral sounds are not ready for vid- lateral wall movement
eofluoroscopic investigations. They are producing Sagittal: Closure achieved by mid-line contact of the
constriction at a level below the soft palate and there- lateral pharyngeal walls
fore no palate movement will occur. However, it will Circular: Closure achieved by a combination of soft
not be clear whether a child can achieve some velo- palate and lateral pharyngeal wall movement
pharyngeal closure but has not yet learnt to do so, Passavant's Ridge: Similar to the circular pattern but
or whether the velopharyngeal mechanism is incom- with forward movement of the posterior pharyn-
petent. Such children require a period of speech and geal wall (Fig, 21.3)
language therapy intervention to establish some oral As velopharyngeal closure is a sphincteric action,
consonants prior to making a decision about whether videofluoroscopic views in a single projection do not
or not videofluoroscopy is required. always provide enough diagnostic information, and
Other children maintain the correct place and therefore multiview videofluoroscopy is the proce-
manner of speech sound production, but the lack dure of choice.
of intra-oral air pressure results in weak, nasalised
consonants. This may result in oral plosive sounds
resembling their nasal equivalents, or weak articula-
tion of sounds with some but inadequate intra-oral
pressure. These are described as passive cleft type
characteristics.
In addition to describing the child's consonant
production, assessment should also include a descrip-
tion of resonance. Resonance describes the balance of
oral and nasal air flow during speech and affects the
overall tone or quality of the voice.
Hypernasality results from too much nasal air-
flow due to a failure of the velopharyngeal mecha-
nism. Hypernasality is most easily perceived on vowel
sounds. Hyponasality results from a lack of appropri-
ate nasal airflow, often related to nasal obstruction,
which is apparent by the de-nasalisation of nasal con-
sonants so that they resemble their voiced oral equiv- Fig. 21.3. Incomplete velopharyngeal closure with Passavant's
alents. Thus, there is a lack of contrast between words ridge
such as "bee" and "me".
Audible nasal emission and nasal turbulence
are additional features of abnormal resonance that
involve the inappropriate nasal release of air during 21.2.4
the production of specific consonants and may be Videofluoroscopy Procedure
present in the child with a velopharyngeal problem.
Videofluoroscopic studies of palatal movement
during speech have a number of advantages. Plain
lateral views can be obtained without the need for any
294
invasive intervention, so young and nervous children
can usually be persuaded to co-operate (Fig. 21.4).
Lateral views show the length of the soft palate and
can document the degree of movement towards the
posterior pharyngeal wall. Any movement of the poste-
rior pharyngeal wall and the presence of a Passavant's
ridge can be described. The contact or lack of contact
between soft palate and posterior pharyngeal wall can
be clearly visualised (Fig. 21.5). The contribution of
adenoidal tissue to the closure can also be noted.
In addition, any compensatory tongue movements
the child makes - for example, using the back of the
tongue to initiate palate movement - can be observed
and this information can be used to guide future
speech and language therapy intervention.
Plain views do not, however, clearly illustrate
asymmetrical palate movement and cannot assess
the contribution of the lateral pharyngeal walls to
velopharyngeal closure. Thus, if lateral views clearly
show a lack of contact between the soft palate and
Fig. 21.4. Child positioned for lateral views
Fig. 21.5. Normallevation of the soft palate
S. McMahon
posterior pharyngeal wall, it can be stated that velo-
pharyngeal closure is definitely inadequate. However,
if there is good mid-line contact between the soft
palate and posterior pharyngeal wall, it cannot be
assumed that velopharyngeal closure is adequate.
Visualisation of the lateral pharyngeal walls is
required to ensure that the entire velopharyngeal
sphincter is working adequately.
There is considerable debate about the most appro-
priate additional views; however, the modified Towne's
view has been described as more effective at detecting
incompetence than both basal views and lateral views
alone (STRINGER and WITZEL 1985) (Fig. 21.6).
The lateral pharyngeal walls cannot be adequately
visualised without the use of a contrast medium. The
instillation of nasal barium is required and is not
always tolerated by very young children, although
with careful preparation and good technique most
children can be persuaded to co-operate. One milli-
litre of barium is inserted into each nostril with the
child lying supine. The child is then asked to sniff so
that the barium coats the soft palate and pharyngeal
walls (Fig. 21.7).
The speech sample must include a variety ofspeech
sounds representative of the place and manner of
production of all sounds in the language if possible,
and certainly all sounds present in the child's own
sound system. Sustained sounds in isolation, conso-
nant-vowel sequences involving a variety of conso-
nant types, e.g."pah pah pah","see, see, see" and some
connected speech should be elicited where possible
(Figs. 21.8, 21.9).
Fig. 21.6. Child positioned for modified Towne's view
Role of Video- Fluoroscopy
Fig. 21.7. Administration of nasal barium
Fig. 21.8. Velopharyngeal port at rest following installation of
nasal barium
Inevitably some children will have a restricted
sound system at the point of examination, but useful
information can only be obtained if the child is able
to produce some oral consonants. The sample should
be recorded on videotape for later detailed analysis.
21.2.5
Videofluoroscopy Interpretation
The analysis should include a description of the qual-
ity of palate movement and the competence of the
velopharyngeal mechanism, including a description
of the closure pattern. Where closure is inadequate,
the relative movements of the components of the
velopharyngeal sphincter and the size and shape of
the gap should be described. The contribution of Pas-
savant's ridge and/or adenoids to the closure should
be identified along with any other features, such as
large tonsils, affecting palatal function.
295
Fig. 21.9. Incomplete velopharyngeal closure on production of
"s"
21.2.6
Summary
When clinical and detailed speech assessments dem-
onstrate clear evidence of velopharyngeal problems,
videofluoroscopic studies of the velopharyngeal port
are required. They contribute significantly to the
understanding of the nature of a child's speech pro-
duction problem and facilitate appropriate planning
of future surgical and therapeutic interventions.
References
Arvedson JC, Rogers B, Buck G, Smart P, Small M (1994)
Silent aspiration prominent in children with dysphagia. Int
J Pediatr OtorhinolaryngoI28:173-181
Arvedson JC, Lefton-Greif MA (1998) Paediatric videofluoro-
scopic swallow studies. The Psychological Corporation, San
Antonio, Texas
Bu'Lock F, Woolridge MW, Baum JD (1990) Development of
co-ordination of sucking, swallowing and breathing: ultra-
sound study of term and preterm infants. Dev Med Child
Neurol 32:669-678
Couriel JM, Bisset R, Miller R, Thomas A, Clarke M (1993)
Assessment of feeding problems in neurodevelopmental
handicap: a team approach. Arch Dis Child 69:609-613
Griggs CA, Jones PM, Lee RE (1989) Videofluoroscopic investi-
gation of feeding disorders of children with multiple hand-
icap. Dev Med Child Neurol 31:303-308
Harding A, Grunwell P (1998) Active versus passive cleft-type
speech characteristics. lnt J Lang Commun Disord 33:3
329-352
Kidder TM, Langmore SE, Martin BJ (1994) Indications and
296
techniques of endoscopy in evaluation of cervical dyspha-
gia: comparison with radiographic techniques. Dysphagia
9:256-261
Logemann J (1983) Evaluation and treatment of swallowing
disorders. College Hill Press, Boston, Mass
Logemann J (1986) Manual for the videofluoroscopic studying
of swallowing. Taylor and Francis, London
Sell D, Harding A, Grunwell P (1999) GOS.SP.ASS. '98: an
assessment for speech disorders associated with cleft palate
and/or velopharyngeal dysfunction (revised). lnt J Lang
Commun Disord 34:17-33
Skolnick ML, McCall GN, Barnes M (1973) The sphincteric
S.McMahon
mechanism of velopharyngeal closure. Cleft Palate J
10:286-305
Stringer DA, Witzel MA (1985) Velopharyngeal insufficiency
on videofluoroscopy: comparison of projections. Am J
RadioI146:15-19
Sullivan PB, Rosenbloom 1. (1996) Feeding the disabled child.
MacKeith Press, London
Vice FL, Heinz JM, Giuriati G, Hood M, Bosma JF (1990) Cervi-
cal auscultation of suckle feeding in newborn infants. Dev
Med Child NeuroI32:760-768
Watson ACH, Sell DA, Grunwell P (2001) Management of cleft
lip and palate. Whurr, London
22 The Oesophagus
SAM R. KOTTAMASU and DAVID A. STRINGER

22.4.3.4 Boerhaave's Syndrome 317

CONTENTS 22.5 Disorders of the Oesophagus Associated
with Abnormal Swallowing 317
22.1 Introduction 297 22.5.1 Cerebral Palsy 317
22.2 Radiological Evaluation of Swallowing 297 22.5.2 Scleroderma (Progressive Systemic Sclerosis) 317
22.3 Congenital Anomalies of the Oesophagus 298 22.5.3 Dermatomyositis 318
22.3.1 Oesophageal Atresia and Tracheo-oesophageal 22.5.4 Achalasia 318
Fistula 298 22.5.5 Chronic Granulomatous Disease 319
22.3.1.1 Imaging 299 22.6 Miscellaneous Disorders of the Oesophagus 319
22.3.1.2 Management 300 22.6.1 Webs of the Upper Oesophagus 319
22.3.1.3 Associated Anomalies 301 22.6.2 Diverticula of the Oesophagus 319
22.3.1.4 Complications 302 22.6.3 Intramural Diverticulosis of the Oesophagus 320
22.3.1.5 H-Type Tracheo-oesophageal Fistula 302 22.6.4 Varices of the Oesophagus 320
22.3.2. Rare Anomalies of Tracheal and Oesophageal References 321
Separation 304
22.3.2.1 Laryngotracheo-oesophageal Cleft 304
22.3.2.2 Oesophagotrachea 304
22.3.2.3 Tracheal Agenesis With and Without Fistula 304
22.3.2.4 Oesophageal Bronchus 304
22.3.3 Cysts and Duplications of the Foregut 305 22.1
22.3.3.1 Bronchogenic Cysts 305 Introduction
22.3.3.2 Enteric and Neurenteric Cysts 305
22.3.3.3 Tubular Oesophageal Duplications 306 The oesophagus in infants and children is similar
22.3.4 Vascular Anomalies 306
22.3.4.1 Imaging 306
to the adult structure in many ways, but radiologi-
22.3.4.2 Four Patterns of Vascular Anomalies on Lateral cally there are a few important differences. Air is
Projection of Barium Swallow 307 more commonly seen in the oesophagus in children,
22.4 Acquired Diseases of the Oesophagus 309 especially in neonates. If the finding is persistent or
22.4.1 Oesophagitis 309 unusually marked, respiratory disease (KEATS and
22.4.1.1 Caustic Ingestion 310
SMITH 1974) or tracheo-oesophageal fistula should
22.4.1.2 Candidal or Viral Oesophagitis 311
22.4.1.3 Tuberculous Oesophagitis 311 be suspected (SMITH et al. 1976).
22.4.1.4 Rare Types of Non-infective Oesophagitis 312 The normal impressions of aorta, left main stem
22.4.2 Neoplasms of the Oesophagus 313 bronchus, and left atrium may be seen on the oesoph-
22.4.2.1 Benign Tumours 313 agogram but are frequently less prominent than in
22.4.2.2 Malignant Tumours 313
22.4.3 Trauma to the Oesophagus 313 adults. In infants the entire oesophagus is often filled
22.4.3.1 Swallowed Foreign Body 313 on rapid swallowing of liquids, and all or part of the
22.4.3.2 Iatrogenic Perforation 315 oesophagus may transitorily dilate relative to the size
22.4.3.3 Mallory-Weiss Syndrome 316 of the chest. The normal oesophagus may be caused
to deviate by extrinsic structures such as the heart.
S.R. KOTTAMASU, MD
Professor of Radiology, Wayne State University School of Med-
icine, Vice Chief, Department of Pediatric Imaging, Children's
Hospital of Michigan, Detroit, Michigan, USA 22.2
D.A. STRINGER BSc, MBBS, FRCR, FRCPC Radiological Evaluation of Swallowing
Senior Consultant and Visiting Specialist Consultant, Depart-
ment of Diagnostic Imaging, National University Hospital,S
Lower Kent Ridge Road, Singapore 119074 and Visiting Special- The mechanism of sucking and swallowing is com-
ist Consultant, Department of Diagnostic Imaging, KK Women plex and rapid. During normal swallowing, follow-
and Children's Hospital, Bukit Timah Road, Singapore ing arrival of the bolus in the pharynx, the crico-
298
pharyngeal muscle relaxes and the bolus reaches the
proximal oesophagus, where a peristaltic wave car-
ries it towards the stomach. It takes less than a second
for a mouthful of fluid to reach the upper oesopha-
gus, and hence the radiological evaluation has to be
in real time; static images are rarely helpful. At pres-
ent, videofluoroscopy is the best commonly available
method of studying the swallowing mechanism as
it involves less radiation than cineradiography (OTT
and PIKNA 1993). If digital cine-loop is available, this
is even better. The indications for videofluoroscopic
barium study to assess swallowing are concern over
bolus formation or nasopharyngeal reflux or aspira-
tion. Aspiration is the most serious of the findings
associated with swallowing disorders. If aspiration is
suspected, the contrast examination should concen-
trate on the upper oesophagus and must be recorded
on video as otherwise intermittent aspiration may be
missed, especially if the aspiration only occurs into
the uppermost portion of the trachea (Fig. 22.1). A
careful study with non-ionic contrast should be car-
ried out in these circumstances. If no cough follows
aspiration, the child is more likely to have respiratory
problems related to aspiration.
Repeated spontaneous aspiration from the begin-
ning of the procedure is highly significant, and great
caution should then be used in continuing the exam-
ination. Changing the position of the head or body
Fig. 22.1. Tracheal aspiration. Intermittent aspiration of con-
trast medium into the proximal part of the trachea (arrow)
S. R. Kottamasu and D. A. Stringer
may eliminate aspiration ofliquid barium during vid-
eofluoroscopic swallowing studies in some patients
(RASLEY et al. 1993). Following significant aspira-
tion, if further study such as an evaluation for gas-
tro-oesophageal reflux is required, the stomach can
be filled via a nasogastric tube. Great care should be
taken to ensure that reflux does not result in aspira-
tion during this part of the procedure. The barium
should be aspirated from the stomach via the naso-
gastric tube at the end of the examination.
22.3
Congenital Anomalies of the Oesophagus
22.3.1
Oesophageal Atresia
and Tracheo-oesophageal Fistula
Oesophageal atresia and tracheo-oesophageal fistula
are the commonest anomalies affecting the oesopha-
gus and trachea. There are four main types of oesoph-
ageal atresia and tracheo-oesophageal fistula that are
important (Fig. 22.2): oesophageal atresia without fis-
tula (10%); oesophageal atresia with distal fistula,
with or without proximal fistula (94%); oesophageal
atresia with proximal fistula only (this type is rare);
and H -type tracheo-oesophageal fistula without atre-
sia (1 %).
The reported incidence of oesophageal atresia with
tracheo-oesophageal fistula varies between 1 in 2000
(SHAPIRO et al.1958) and 1in 5083 live births (INGALLS
and PRINDLE 1949). Familial occurrence of tracheo-
oesophageal atresia has occurred in siblings and in
identical twins, (BLANK et al. 1967; OHKUMA 1978)
and in a mother and her children (ENGEL et al. 1970),
but is rare.
All cases of oesophageal atresia present on the first
day of life with coughing and choking, which may
be associated with cyanosis. Excessive salivation may
occur, especially in oesophageal atresia without fis-
tula. Oesophageal atresia should be considered if
maternal polyhydramnios was present, if there is
excessive salivation, if a catheter could not be passed
into the stomach after delivery, or if coughing, chok-
ing, or cyanosis occurs during the first feed.
The abdomen is often distended since the fistula
opens in expiration and closes in inspiration, allow-
ing air to enter the stomach. A scaphoid abdomen is
associated with the rare forms of atresia that have no
distal fistula. H -type fistula usually presents later and
may even be found in adulthood. It usually presents
The Oesophagus 299

A Bl B2

Fig. 22.2. Types and frequency of occur-

rence of tracheo-oesophageal fistula. A
Oesophageal atresia without tracheo-
oesophageal fistula (5%-10%). Bl Oesoph-
ageal atresia with distal tracheo-oesoph-
ageal fistula (85%-94%). B2 Oesophageal
atresia with proximal and distal tracheo-
oesophageal fistula (rare). C Oesophageal
atresia with proximal tracheo-oesophageal
fistula (rare). D H-type tracheo-oesoph-
ageal fistula without atresia (1%-5%).
(Reproduced from STRINGER and BABYN
2000, by permission)

with chronic respiratory symptoms and can be dif-

ficult to diagnose if small.

22.3.1.1
Imaging

The association of polyhydramnios with oesophageal

atresia and tracheo-oesophageal fistula is well known
and can occur as early as 24 weeks of gestational age
(PRETORIUS et al. 1987). In one-third of patients an
antenatal sonographic diagnosis is possible as little
amniotic fluid passes the fistula, resulting in polyhy-
dramnios and absence of stomach fluid (PRETORIUS
et al. 1987). However, antenatal ultrasonography fails
to detect two-thirds of patients, presumably because
the tracheo-oesophageal fistula is large enough to
allow the passage of amniotic fluid (PRETORIUS et al.
1987). In the rare cases where there is no distal fistula,
antenatal diagnosis is more reliable, and is made on
the basis of absent gastric fluid and polyhydramnios
(FARRANT 1980; PRETORIUS et al. 1987).
Following delivery, plain film radiography is usu-
ally sufficient to make the diagnosis of the more
common atresias. After attempted placement of a
nasogastric tube, frontal and lateral radiographs of
the chest and upper abdomen will show the extent of
the proximal pouch and presence of a distal fistula Fig. 22.3. Oesophageal atresia and tracheo-oesophageal fistula
in the new-born infant. The nasogastric tube is doubled up in
(Fig. 22.3). If there is no gas in a scaphoid abdomen,
the proximal oesophageal pouch on lateral projection. Gas in
there is no distal fistula (Fig. 22.4). Frontal and lateral the abdomen demonstrates the presence of a tracheo-oesoph-
chest radiographs can be used to delineate the size ageal fistula. (Reproduced from STRINGER and BABYN 2000, by
of the pouch after injection of air into the proximal permission)
 300
a b
pouch. This procedure must be carried out with heart
rate monitoring, as profound bradycardia and respi-
ratory distress can occur secondary to oesophageal
distension.
Contrast medium may be injected into the prox-
imal pouch by naso-oesophageal tube to exclude a
proximal fistula (a pouchogram); occasionally more
than one proximal fistula is present (GOODWIN 1978).
The rare proximal fistula in the chest will be found
intraoperatively; the rare proximal fistula in the neck
is more approachable from the neck at a separate
operation when the initial oesophageal operation has
healed. If a pouchogram is performed, less than 0.5
ml non-ionic low-osmolar contrast medium should
be utilised. It should be instilled under fluoroscopic
control to prevent aspiration. Videotape recording of
the procedure will avoid needless repetition of the
examination. After the pouch has filled, the contrast
should be removed through the naso-oesophageal
tube by prompt suction with a syringe. The pouch
should not be overdistended as this can cause pro-
found vasovagal bradycardia.
22.3.1.2
Management
The common atresias with distal fistula are usually
repaired by primary anastomosis with division of the
S. R. Kottamasu and D. A. Stringer
Fig. 22.4a, b. Oesophageal atre-
sia without a tracheo-oesoph-
ageal fistula in a new-born
infant. A nasogastric tube is
present in the proximal oesoph-
agus pouch on frontal (a) and
lateral (b) projections. The lack
of air in a scaphoid abdomen
demonstrates that tracheo-
oesophageal fistula is not pres-
ent. The multiple rib and ver-
tebral anomalies with scoliosis
indicate the VATER association.
An umbilical venous catheter
is present. (Reproduced from
STRINGER and BABYN 2000, by
permission)
fistula. The anastomosis can be end-to-end or end-
to-side. The apparent increased incidence of recur-
rent fistula (EIN et al. 1983) and other complications
(EIN et al. 1973) with the end-to-side anastomoses is
not universally found (BEARDMORE and TOULOUKIAN
1973).Atresia without distal tracheo-oesophageal fis-
tula is usually treated by initially performing a gas-
trostomy, as primary closure is rarely possible. A
cervical oesophagostomy may be created to drain
secretions. A considerable gap usually exists between
the proximal pouch and the distal pouch, except
when there is a proximal fistula (BERDON and BAKER
1975). To assess whether primary repair is feasible,
the length of the gap can be assessed by passing a
tube through the gastrostomy into the distal oesoph-
ageal pouch, while another tube lies in the proximal
pouch (Fig. 22.5) (EIN and FRIEDBERG 1981). If the
oesophageal deficit is more than a few centimetres, a
further period of waiting is advisable to see whether
growth of the pouches helps to bridge the gap (EIN
and FRIEDBERG 1981). Manual bougienage of the
upper oesophageal pouch can be performed to stimu-
late growth (HOWARD and MYERS 1965), but spon-
taneous growth of the oesophageal segments may
occur without any stretching or bougienage (PURl
et al. 1981). A circular oesophageal myotomy may
aid primary anastomosis and give good long-term
results, and will be seen as a somewhat dilated prox-
The Oesophagus
Fig. 22.5. Oesophageal atresia without tracheo-oesophageal
fistula. Tubes are positioned in proximal and distal oesopha-
geal pouches, the latter via a gastrostomy, shown on a lateral
spot film. Pressing the tubes gently towards each other will
demonstrate the smallest distance between the pouches
imal oesophagus on barium swallow (VIZAS et al.
1978; JANIK et al. 1980). If a primary repair cannot
be undertaken, then a colonic interposition can be
performed or a gastric tube can be fashioned.
Occasionally there is a proximal pouch fistula in
association with atresia and no distal fistula. In these
cases, the distal pouch is generally large, facilitating
surgery (BERDON and BAKER 1975).
22.3.1.3
Associated Anomalies
There are many entities associated with oesophageal
atresia and tracheo-oesophageal fistula, most ofwhich
are covered by the acronym "VATER". Anomalies
included in the VATER association are vertebral
anomalies, anal atresia, tracheo-oesophageal fistula
with oesophageal atresia, and radial dysplasia (QUAN
and SMITH 1972,1973). However, pulmonary, cardio-
vascular and renal anomalies have also been observed
(BARNES and SMITH 1978).A ventricular septal defect
301
is the most common cardiac lesion. Vascular abnor-
malities include a single umbilical artery.
Approximately 5% of infants with VATER asso-
ciation have a right aortic arch, which may cause
surgical problems if the usual right thoracotomy
is performed, and hence some surgeons prefer this
information preoperatively (HARRISON et al.1977). If
this information is required, and is not apparent from
the plain films, CT or MRI can accurately localise the
aorta (DAY 1985).
Segmental oesophageal stenosis distal to an
oesophageal atresia may, rarely, be found at the junc-
tion of the middle and lower thirds of the oesophagus
(THOMASON and GAY 1987). In most of these cases
the patient has a distal tracheo-oesophageal fistula
and the stenosis is probably fibromuscular thicken-
ing, although tracheobronchial cartilage remnants
may occasionally be present (THOMASON and GAY
1987). Gastro-oesophageal reflux could result in a
similar stricture. Duodenal atresia is an associated
entity most commonly found in children with Down's
syndrome and oesophageal atresia (Fig. 22.6).
Fig. 22.6. Oesophageal atresia, tracheo-oesophageal fistula, and
duodenal atresia. The plain films show the high location of the
nasogastric tube in the proximal oesophageal pouch (arrow)
and a characteristic double bubble appearance due to gaseous
distension of the stomach (5) and duodenum (D). Vertebral and
rib anomalies are present. (Reproduced from STRINGER and
BABYN 2000, by permission)
302 S. R. Kottamasu and D. A. Stringer

22.3.1.4 absence of symptoms indicates the possible presence

Complications
The three early complications that may follow opera-
tive treatment of oesophageal atresia are leak, recur-
rent fistula, and stricture. Long-term problems that
may present early or late include stricture with
or without impaction of food, problems related to
oesophageal dysmotility, respiratory complications,
and progressive scoliosis. Coughing, choking, apnoea,
cyanosis, and recurrent chest infections from aspira-
tion can all occur secondary to anastomotic stricture,
gastro-oesophageal reflux, oesophageal dyskinesia, or
recurrent tracheo-oesophageal fistula. Tracheomalacia
can produce stridor (DAUM 1971) with life-threatening
anoxic spells (FILLER et al. 1976). Other respiratory
complications include tracheal stenosis (DAUM 1971).
22.3.1.4.1
Anastomotic Leak
Anastomotic leak is serious and can be fatal (DAUM
1971). A leak usually presents early, often with an
associated pneumothorax. It can be confirmed by an
oesophagogram with a non-ionic iso-osmolar water-
soluble contrast medium; if barium is used, it may
enter the pleura or mediastinum and remain there
for years. To exclude a leak and other complications,
a postoperative oesophagogram is performed prior
to oral feeding. Barium can be used if a leak is not
suspected, but for the first postoperative swallow, the
non-ionic iso-osmolar water-soluble contrast media
are preferred.
of a recurrent fistula (STRINGER and EIN 1984).
Other methods have also been used. Methylene
blue may be injected into the oesophagus during
bronchoscopy or instilled into the trachea during
oesophagoscopy. Alternatively, bubbles may be seen
during oesophagoscopy if saline is instilled into the
oesophagus and positive pressure is applied to the
airway (KAFROUNI et al.1970; STANFORD et al. 1973).
22.3.1.4.3
Stricture and Oesophageal Dysmotility
Between 35% and 50% of patients with oesopha-
geal atresia and tracheo-oesophageal fistula develop
stricture (LAKs et al. 1972). Strictures may be sec-
ondary to the anastomotic repair or to oesophageal
dysmotility and reflux oesophagitis. The stricture is
most commonly seen at the level of the anastomosis
(Fig. 22.8).and can be a site of foreign body obstruc-
tion in later life (Fig. 22.9). Occasionally, the stricture
can occur at a lower level. Rarely, multiple strictures
may be encountered.
22.3.1.5
H- Type Tracheo-oesophageal Fistula
H-type tracheo-oesophageal fistula is usually single,
congenital in origin, and in 62% of cases lies at or

22.3.1.4.2
Fistula Recurrence

Approximately 10% of tracheo-oesophageal fistulae

recur (KAFROUNI et al. 1970; STANFORD et al. 1973),
although both higher and lower incidences have been
reported (DAUM 1971; EIN et al. 1973).
The diagnosis is difficult to establish (KAFROUNI
et al. 1970; FILSTON et al. 1982) and may be delayed
for some years (FALLETTA 1964; KISER et al. 1972;
SLIM and TABRY 1974). The fistula may be asymp-
tomatic, although many fistulae are associated with
respiratory symptoms.
Plain films of the chest and abdomen may show
a dilated, air-filled oesophagus and an abdomen dis-
tended with bowel gas (STRINGER and EIN 1983). An
Fig. 22.7. Recurrent tracheo-oesophageal fistula. The fistula
oesophagogram may show the recurrent fistula (see extends from the oesophagus inferiorly to the trachea supe-
Fig. 22.7) or unusual anterior beaking of the oesopha- riorly. (Reproduced from STRINGER and BABYN 2000, by per-
gus in the region of the anastomosis, which even in the mission)
The Oesophagus 303

Fig. 22.9. Oesophageal

stricture with food bolus
impaction. Two years
after repair of oesopha-
geal atresia, a food bolus
(B) is impacted at a stric-
ture in the upper oesoph-
agus

Fig. 22.8. Oesophageal stricture following oesophageal atresia

repair. A very tight stricture (arrow) is present near the site of
the anastomosis

above the level of the second thoracic vertebra; hence

repair can be accomplished by a cervical approach,
a safer surgical technique than a thoracotomy (SCH-
NEIDER and BECKER 1962). Rarely, an H-type fistula
may be acquired. Acquired non-malignant oesoph-
ago-respiratory fistulae are rare complications of
trauma, foreign body (RAHBAR and FARHA 1978),
oesophageal diverticula, and necrotising vasculitis
(WESSELHOEFT and KESHISHIAN 1968). H-type fis-
tulae without atresia present later than those with
atresia (ECKSTEIN et al. 1970). The presenting symp-
toms include choking, coughing, attacks of cyanosis,
and recurrent pneumonia (SUNDAR et al. 1975). The
abdomen may be distended.
Plain films may show gaseous abdominal disten-
sion (HELMSWORTH and PRYLES 1951) and pneumo-
oesophagus (SMITH et al. 1976), especially after endo-
tracheal intubation and positive pressure ventilation.
The fistula may be easy to show on an oesopha-
gogram (Fig. 22.10) or may be difficult to demon- Fig. 22.10. H-type tracheo-oesophageal fistula. The fistula
passes obliquely and superiorly from the oesophagus to the
strate and require a number of examinations. The trachea (arrow). More of the tracheobronchial tree is filled
prone oesophagogram with video recording is the with barium than is desirable. (Reproduced from STRINGER
best method of demonstrating an H-type fistula and BABYN 2000, by permission)
304
(THOMAS and CHRISPIN 1969). To prevent filling of
the tracheobronchial tree, the examination should be
stopped as soon as contrast enters the trachea.
22.3.2.
Rare Anomalies ofTracheal and Oesophageal
Separation
There is a spectrum of rare anomalies of tracheal and
oesophageal separation (Fig. 22.11).
22.3.2.1
Laryngotracheo-oesophageal Cleft
Laryngotracheo-oesophageal cleft is a rare anomaly:
a persistent communication via a cleft through the
larynx, cricoid cartilages, and part of the trachea. The
size of the cleft is variable, with a defect in the poste-
rior part of the cricoid cartilage and a large H-type fis-
tula representing one end of the spectrum. A laryngo-
tracheo-oesophageal cleft usually presents early with
choking on feeding, excessive oral mucus, and cyano-
sis. Stridor may occasionally be present. Polyhydram-
nios and prematurity are often part of the clinical
picture (BLUMBERG et al. 1965). Other anomalies
may be associated, especially oesophageal atresia and
tracheo-oesophageal fistula (BURROUGHS and LEAPE
1974). The prognosis is good if the defect is small.
Laryngoscopy and endotracheal intubation
(FELMAN and TALBERT 1972) usually make the diag-
nosis. The radiologist may be the first person to dis-
cover an unsuspected lesion during a barium exami-
nation. It follows that great care must be taken during
a barium examination when the possibility of any type
of fistula exists, because of the risk of aspiration. When
they are small, clefts may be difficult to demonstrate;
like H-type fistulae, they are best seen radiologically
using a video oesophagogram (MORGAN et al.1979).
S. R. Kottamasu and D. A. Stringer
22.3.2.2
Oesophagotrachea
The most severe form of laryngotracheo-oesopha-
geal cleft is the oesophagotrachea, where there is no
division between the trachea and the oesophagus
(GRISCOM 1966).
22.3.2.3
Tracheal Agenesis With and Without Fistula
Tracheal agenesis is an extremely rare anomaly. In its
commonest form, there is a connection between the
carina and anterior oesophagus; less commonly, there
may be a short section of trachea; in the rarest form,
no fistula occurs. The baby will have respiratory dif-
ficulties at birth with cyanosis. Associated cardiovas-
cular, gastrointestinal, or genitourinary anomalies are
usually present. The condition is invariably fatal.
Plain films may show a marked pneumo-oesoph-
agus with anterior displacement of the trachea. Con-
trast studies will outline the anatomy (MORGAN et
al. 1979).
22.3.2.4
Oesophageal Bronchus
Oesophageal bronchus is a rare anomaly where the
bronchus arises directly from the oesophagus; it may
be a main stem bronchus supplying an entire lung, or
it may be a lobar bronchus. Rarely, other anomalies
such as an anomalous pulmonary artery (GRAVES et
al. 1975) or oesophageal atresia and tracheo-oesoph-
ageal fistula may be present (LEITHISER et al. 1986).
The arterial supply may occasionally arise from
the systemic circulation (STANLEY et al. 1985). The
child presents with respiratory difficulty or recurrent
infections and may have abnormal chest X-ray find-
ings such as a hypoplastic lung (REILLY et al. 1973).
Fig. 22.11. Rare anomalies
of tracheal and oesopha-
geal separation. A Laryn-
gotracheo-oesophageal
cleft. B Oesophagotrachea.
C Tracheal agenesis with
fistula. D Tracheal agene-
sis. E Oesophageal bron-
chus. (Reproduced from
STRINGER and BABYN
2000, by permission)
The Oesophagus
An oesophagogram will usually demonstrate the
abnormal bronchus. Bronchography is not usually
required, as there is no communication with the
sequestered lung. Preoperative CT angiography or
magnetic resonance angiography (MRA) is often
required to show the arterial supply and venous
drainage, which may be normal or abnormal (REILLY
et al. 1973; GRAVES et al. 1975; STANLEY et al. 1985).
22.3.3
Cysts and Duplications of the Foregut
Foregut malformations are complex and show much
individual variation. Despite overlap in some individ-
ual cases, they can be divided into three broad catego-
ries: bronchogenic cysts, enteric (including neuren-
teric) cysts, and tubular oesophageal duplications.
22.3.3.1
Bronchogenic Cysts
Bronchogenic cysts are formed from groups of epithe-
lial cells that have separated from the tracheobronchial
tree. They usually present with respiratory symptoms
such as wheezing, dyspnoea, and cough secondary to
compression of adjacent structures. The cysts usually
occur in the middle mediastinum, though they can be
found elsewhere (AMENDOLA et al. 1982).
Plain films demonstrate the mass lesion and any
tracheal deviation. The oesophagogram may show
a deviated but otherwise normal oesophagus. The
radiological appearance is often similar to that of
an enteric cyst. Rarely, a bronchogenic cyst may lie
between the oesophagus and the trachea, mimicking
an aberrant left main pulmonary artery. A broncho-
genic cyst may occasionally communicate with the
oesophagus via a fistula, usually secondary to infec-
tion (MINDELYUN and LONG 1978). Bronchoscopy
can show the tracheal compression but is not usually
indicated. CT with intravenous contrast or MRI is
used preoperatively to show the relationship of a cyst
to the vascular structures and to confirm the cystic
nature of the mass.
22.3.3.2
Enteric and Neurenteric Cysts
Enteric cysts tend to be more posterior in position
than bronchogenic cysts. They are derived from the
posterior part of the primitive foregut (GRAY and
SKANDALAKIS 1972a) and commonly contain gastric
or intestinal mucosa and neural tissue. Cysts con-
305
taining neural tissue are termed "neurenteric cysts".
Enteric cysts usually present early in life and occa-
sionally are associated with other foregut anomalies
such as oesophageal atresia (KIRKS and FILSTON
1981). Secretions produced by the lining epithelium
increase the size of the cyst and cause pressure symp-
toms, which are usually respiratory. The cysts may
reach a great size and cause respiratory distress.
The neurenteric cyst is in contact with the spinal
canal through either a fibrous tract or a fistula.
This intraspinal extension may cause serious prob-
lems such as recurrent meningitis, cord compression,
and paraplegia (PIRAMOON and ABBASSIOUN 1974).
However, the patient may be neurologically normal
(SUPERINA et al. 1984). The resulting vertebral anom-
alies, which are always superior to the neurenteric
cyst, include butterfly vertebrae, hemivertebrae, and
scoliosis (Fig. 22.12).
22.3.3.2.1
Complications and Unusual Features of Enteric Cysts
Acid secretion by the cyst is a serious complication,
which can cause ulceration with fatal haemorrhage.
Patients may present with haematemesis or haemop-
tysis (CHANG et al. 1976) depending on where the
ulcer erodes. A partial pericardial defect may be pres-
ent on the same side as an enteric cyst (KASSNER et
al. 1975). Rarely, enteric cysts may present as a mass
lesion in the neck, causing diagnostic problems as
they may be asymptomatic or they may cause respira-
Fig. 22.12. Neurenteric cyst. A large mass opacifies the right
hemithorax. The nasogastric tube is deviated to the left and
there is an associated upper thoracic vertebral anomaly
306
tory distress (GANS et al. 1968). A communicating
oesophageal duplication cyst containing a foreign
body has been reported (STRINGEL et al. 1985).
Oesophageal duplication cyst and aberrant right sub-
clavian artery mimicking a symptomatic vascular
ring has been described (HELUND and BISSET 1989).
Spontaneous resolution of some mediastinal cysts
has been documented (MARTIN et al. 1988).
22.3.3.2.2
Imaging of Enteric Cysts
Plain films may show the cyst as a soft tissue mass
and any vertebral anomalies (Fig. 22.12). The cysts
lie adjacent to the oesophagus but do not usually
communicate with it, though the oesophagus may be
displaced by the mass (Fig. 22.12).
Neurenteric cysts frequently affect the posterior
ribs, and may involve the spinal canal. Indeed, intra-
spinal anomalies can occur in almost 25% of patients
with a mediastinal enteric cyst and a vertebral anom-
aly, who are often asymptomatic initially (SUPERINA
et al. 1984). Hence, MRI should be performed in all
patients with associated vertebral anomalies (SUPE-
RINA et al. 1984). A 99mTc sodium pertechnetate scan
(Meckel scan) can image duplications provided that
they contain ectopic gastric mucosa and hence can
confirm the diagnosis. Very rarely, an oesophageal
duplication cyst may present in adult life.
22.3.3.3
Tubular Oesophageal Duplications
Tubular oesophageal duplications are rare. They may
communicate with the normal oesophagus or stom-
ach (MoIR 1970). The embryogenesis is probably
different from that of the other foregut malforma-
tions and may be due to faulty recanalisation of the
oesophageal lumen (AMENDOLA et al. 1982). The
anomalies can present with dysphagia or can be
completely asymptomatic. Oesophageal carcinoma
in a duplication has been found in an adult (BOIVIN
et al. 1964).
22.3.4
Vascular Anomalies
Vascular anomalies of the aortic arch system may
be associated with the formation of a vascular
ring. These abnormalities may be symptomatic and
become apparent in the neonatal period, present in
later life, or remain asymptomatic. Early presenting
S. R. Kottamasu and D. A. Stringer
symptoms are usually respiratory in nature, such
as dyspnoea, stridor, and cyanotic spells, occurring
especially during feeding.
22.3.4.1
Imaging
Plain radiograph examination of the chest is usu-
ally the first examination performed. The position of
the trachea and aorta should be assessed. In normal
individuals with a left aortic arch, the trachea devi-
ates slightly to the right, or it can be buckled to the
right due to head flexion. An aortic arch anomaly
should be suspected if the trachea is midline or devi-
ates to the left (STRIFE et al. 1989), or if there is
increased soft tissue density in the right paratracheal
region. The presence of tracheal indentation, either
on the right as seen on the anteroposterior view or
posteriorly as seen on the lateral view, is abnormal.
Oesophagograms are very helpful; there are four pat-
terns that cover the vast majority of tracheal and
oesophageal abnormalities (Fig. 22.13). CT with con-
trast enhancement or MRI is used to demonstrate the
( ] 1 1
( ) [ )
[ ) ( ]
[ ] ( )
[ ] ( )
[ ] [ )
A B
( ) ~ J
( )
~( 1J
i J
( )
[ J [ 1
[1 f J
c D
Fig. 22.13. The four lateral oesophagogram patterns. A Pos-
terior oesophageal impression and normal trachea. B Anterior
oesophageal and posterior tracheal impression. C Posterior
oesophageal and anterior tracheal impression. D Anterior tra-
cheal impression and normal oesophagus. (Reproduced from
STRINGER and BABYN 2000, by permission)
 The Oesophagus
aberrant left pulmonary artery sling and may help in
the investigation of other anomalies.
While angiography is the definitive diagnostic
step, it is not considered necessary by most paediatric
surgeons. MRA is non-invasive and is helpful in pre-
operative evaluation of selected children with com-
plicated vascular anomalies.
22.3.4.2
Four Patterns of Vascular Anomalies on Lateral Pro-
jection of Barium Swallow
22.3.4.2.1
Posterior Oesophageal Impression
and Normal Trachea
This is the most common abnormal appearance. It is
usually caused by either an aberrant right subclavian
artery with a left aortic arch or, less commonly, by
an aberrant left subclavian artery with a right aortic
arch. This anomaly has been seen in 0.5% of autopsy
cases (BEAUBOUT et al. 1964) but does not generally
cause symptoms in childhood. A vascular ring may
occasionally occur if there is a left-sided ductus arte-
riosus with a right aortic arch and aberrant left sub-
a,b
Fig. 22.14a-c. Aberrant left subclavian artery with right-sided aortic arch. Oesophagogram shows a posterior indentation on the
lateral view (a) and a slightly oblique indentation on the frontal view (b). c Arch aortogram demonstrates the right-sided aortic
arch and the aberrant left subclavian artery (arrow) .(Reproduced from STRINGER and BABYN 2000, by permission)
307
clavian artery. An aneurysm of the aberrant sub-
clavian artery has been reported in adults. In the
absence of respiratory symptoms or signs, treatment
of aberrant subclavian artery is not indicated.
On plain films no abnormality is seen unless
a right-sided aorta is present. The oesophagogram
shows a posterior indentation on the oesophagus on
the lateral view (Fig. 22.14) and an oblique or trans-
verse defect on the frontal view. In some patients
with a right aortic arch with aberrant left subclavian
artery, a left-sided oesophageal indentation is noted,
which may be related to an aortic diverticulum. Angi-
0graphy is not usually not indicated. MRA is an excel-
lent alternative to angiography in patients with vas-
cular rings when further anatomic delineation of the
abnormality is required (BISSET et al. 1987).
22.3.4.2.2
Anterior Oesophageal and Posterior Tracheal
Impression
This classic appearance is noted with a pulmonary
vascular sling where the left pulmonary artery arises
from the right pulmonary artery and then loops pos-
teriorly around the trachea before passing to the left
c
308
(Fig. 22.15). An aberrant left pulmonary artery often
presents at birth with severe respiratory difficulty.
Milder cases have been reported, however, including a
79-year-old man with dysphagia only during the last
few months of life (GRAY and SKANDALAK1S 1972b).
On plain films, the aberrant left pulmonary artery
may be seen as a soft tissue mass indenting the pos-
terior aspect of the trachea. There may be evidence
of air trapping or collapse of either lung secondary to
tracheobronchial obstruction. These complications
are unusual in other vascular anomalies (BERDON
and BAKER 1972). If a tracheal bronchus to the right
upper lobe lies superior to the pulmonary sling,
there may be compensatory emphysema in this lobe
together with collapse of the middle and lower lobes
of the right lung (CAP1TANIO et a1. 1971).
CT during the intravenous injection of contrast,
MRA or angiography may confirm the diagnosis.
Rarely, a complete cartilage ring tracheal stenosis
may also be present and require surgical treatment as
well as the aberrant vessel (HAN et a1. 1980; BERDON
et a1. 1984). Failure to recognise this ring-sling com-
plex may result in fatality due to continuing respira-
tory embarrassment.
Differential diagnosis: The appearance of an anterior
oesophageal and posterior tracheal impression in the
appropriate clinical context is diagnostic of an anom-
alous left pulmonary artery sling. Bronchogenic cysts
and lymph node enlargement, which could be consid-
Fig. 22.15. Aberrant left pulmonary artery. A constant indenta-
tion is present on the anterior aspect of the oesophagus
S. R. Kottamasu and D. A. Stringer
ered in the differential, are usually more lateral in loca-
tion rather than being localised between the oesopha-
gus and trachea; however, exceptions do occur.
22.3.4.2.3
Posterior Oesophageal and Anterior Tracheal
Impression
The combination of a posterior oesophageal and
anterior tracheal impression is usually caused by a
vascular ring such as a double aortic arch. A right
aortic arch combined with an aberrant left subcla-
vian artery and a left ductus arteriosus can give
a similar appearance when the ring is tight (NEU-
HAUSER 1946, 1949). An indentation on both sides of
the oesophagus can be seen on the frontal projection,
the right one being usually higher and larger than
the left indentation.
MRA preoperatively will show the double aortic
arch. The smaller arch can be divided along with the
ductus arteriosus to relieve the tracheal compression.
A right aortic arch with an aberrant left subcla-
vian artery is a relatively common anomaly. However,
if the ductus arteriosus arises close enough to the
origin of the aberrant artery to cause tracheal com-
pression, a deformity identical to that of a double
aortic arch will be produced. Surgical treatment of
the two types of anomaly is similar, so preoperative
differentiation may not be required.
22.3.4.2.4
Anterior Tracheal Impression
and Normal Oesophagus
The innominate artery may produce anterior tra-
cheal indentation and does not affect the oesophagus
(GROSS and NEUHAUSER 1948), but its reported fre-
quency and importance vary (BERDON and BAKER
1972; MOES et a1. 1975). Even when such indentation
is demonstrated, surgery may be neither indicated
nor curative (BERDON et a1. 1969; MOES et a1. 1975).
22.3.4.2.4.1
Congenital Stenosis of the Oesophagus
Although most stenoses in childhood are associated
with trauma, reflux oesophagitis, or ingestion of toxic
substances, a few stenoses are found which are truly
congenital and may be more common than is gener-
ally accepted (DOMINGUEZ et a1. 1985). They have
been seen in association with a cartilaginous ring
(ANDERSON et a1. 1973). Congenital stenoses have
been associated with tracheo-oesophageal fistula
(JEWSBURY 1971).
The Oesophagus 309

22.3.4.2.4.2
Congenital Tracheomalacia
Occasionally a neonate presents with stridor from
birth and the aetiology is uncertain. These can be
considered as cases of congenital tracheomalacia and
is a rare anomaly with a grave prognosis. The trachea
may be almost obliterated on expiration.

22.4
Acquired Diseases of the Oesophagus

22.4.1
Oesophagitis

Oesophagitis usually results from gastro-oesopha-

geal reflux, which may give a very variable appear- Fig. 22.17. Oesophageal
ance with mucosal irregularity, with or without nod- stricture from reflux.
ularity (Fig. 22.16), and stricture formation that There is a long stricture
can be smooth (Fig. 22.17) or somewhat shouldered with tapered margins in
(Fig. 22.18). However, this large subject is beyond the lower oesophagus
from repeated gastro-
the scope of this chapter and only other causes of oesophageal reflux
oesophagitis will be discussed. These other causes
include ingestion of caustic substances and infections
and non-infectious inflammatory disorders. Many
radiological features are common to all these aetiolo-
gies, such as aperistalsis (SIMEONE et al. 1977).

Fig. 22.16. Severe nodular

oesophagitis from reflux.
Severe nodular oesopha-
gitis mimicking varices is Fig. 22.18. Oesophageal stricture from reflux. There is a rela-
present due to repeated tively short stricture with shouldered margins in the upper
gastro-oesophageal reflux oesophagus from repeated gastro-oesophageal reflux
310 S. R. Kottamasu and D. A. Stringer

22.4.1.1
Caustic Ingestion

In children, ingestion of caustics is nearly always acci-

dental. The most commonly swallowed substances
are household cleaning products, which include
ammonium chloride, alkaline caustics, and acids
(NELSON 1983). Examination of the mouth may show
burns, but their absence does not exclude oesopha-
geal lesions; these should be sought if the diagnosis
is suspected.
In the acute stage, the diagnosis must be made
quickly so that treatment with steroids, antibiotics,
and supportive measures can be instituted. Treat-
ment is aimed at preventing the main complications
of caustic ingestion, namely mediastinitis, oesopha-
geal perforation, and long-term stricture formation.
In the acute phase, in severe cases, plain films
of the chest may show a dilated, air-filled, atonic
oesophagus (MARTEL 1972) with either mediastinal
widening due to mediastinitis or widening of the left
lateral paraspinal pleural reflection due to oesopha-
geal wall thickening. Oesophagoscopy can be used to
grade the severity and extent of oesophageal involve- Fig. 22.19. Caustic oesophagitis due to lye ingestion. Irregular-
ity and rigidity indicate oesophageal ulceration and oedema
ment (ALFORD and HARRIS 1959). However, in view 2 weeks after ingestion of lye
of the danger of perforation, it may not be wise
to pass the endoscope beyond the first evidence of
oesophagitis and to restrict its use to confirmation
that the oesophagus is involved (DALY 1968).
The extent of the oesophagitis can be more safely
demonstrated with an oesophagogram (MIDDLEKAMP
et al. 1969), although this may result in underesti-
mation of the damage (FRANKEN 1973).An iso-osmo-
lar water-soluble contrast medium oesophagogram
is advisable as perforation is a common and serious
complication. The oesophagogram may show a rigid
oesophagus, with a variable degree of ulceration (Fig.
22.19),or there may be any of a variety of appearances
including a dilated, atonic oesophagus or an irritable
oesophagus with tertiary waves (LEVINE 1991). Aspi-
ration due to swallowing incoordination may also be
present (FRANKEN and SMITH 1982a).
The acute complications perforation and medias-
tinitis may occur, especially following oesophagos-
copy. Alternatively, perforation may occur some time
after the initial trauma, but this is usually associated
with surgical dilatation of a stricture. Strictures occur
in up to 30% of cases. They can occur at any level
of the oesophagus and can involve all or part of
the circumference, together with a variable length of
the oesophagus (KARASICK and LEV-TOAFF 1995). Fig. 22.20. Chronic oesophageal stricture due to lye inges-
Radiologically, strictures in the chronic phase gener- tion. A tight oesophageal stricture developed over the next 6
ally appear tapered with smooth mucosa (Fig. 22.20), months following ingestion of lye
The Oesophagus 311

although strictures may be irregular, mimicking car-

cinoma. Sporadic cases of carcinoma arise in caustic
strictures many years after the initial injury (FRAN-
KEN and SMITH 1982b). Rarely, the grave complica-
tions of a tracheo-oesophageal or oesophago-aortic
fistula may ensue (AMOURY et al. 1975).

22.4.1.2
CandidalorV"aIOesophagn~

Infective oesophagitis is most commonly caused by

Candida albicans in patients who are immunosup-
pressed or receiving cytotoxic chemotherapy (GUYER
and ROOKE 1971). Pain and dysphagia are the usual
presenting symptoms, and oral candidiasis is not nec-
essarily present. Infections with herpesvirus or cyto-
megalovirus are less common, but they can often
produce similar symptoms and radiological appear-
ances. Cytomegalovirus has also been found to cause
oesophagitis and gastritis in acquired immune defi-
ciency syndrome (AIDS) (BALTHAZAR et al. 1985).
Herpesvirus is often found in conjunction with Can-
Fig. 22.21. Early monilial oesophagitis. Mucosal irregularity
dida and may be the cause of persistent oesophagitis with small raised nodules, outlined with barium, represents
despite adequate antifungal therapy. localised oedema and ulceration in the early phase
The double contrast oesophagogram is more accu-
rate than single contrast study and has an 88% sen-
sitivity (LEVINE et al. 1985). On oesophagogram,
the lower two-thirds of the oesophagus are particu-
larly affected. Initially, there is decreased motility or
spasm (ROHRMAN and KIDD 1978). Subsequently the
mucosa of the oesophagus becomes irregular, with
raised nodules and fine ulceration (Fig. 22.21). The
wall of the oesophagus may appear thick.
Plaque-like lesions in the oesophagus can occur
with herpes or candidiasis (Fig. 22.22). Discrete ulcers
on an otherwise normal mucosa suggest herpes
oesophagitis (LEVINE 1991). In cases of herpetic or
candidal oesophagitis, barium may adhere to the
oesophageal mucosa for several hours (GUYER and
ROOKE 1971).

22.4.1.3
Tuberculous Oesophagitis

Fortunately, tuberculous oesophagitis is rare, being

usually a manifestation of advanced or disseminated
pulmonary tuberculous disease in an adult patient Fig. 22.22. Later
(SCHNEIDER 1976). However, occasionally the condi- monilial oesophagi-
tion may be seen in children (HAMILTON et al. 1977). tis. As the infection
Patients may present with signs of disseminated develops, the raised
nodules, rep-
tuberculosis or occasionally just with dysphagia
resenting monilial
(HAMILTON et al. 1977). If there is dysphagia, a barium plaques, become
study may show irregular mucosa, extrinsic compres- better defined
312 S. R. Kottamasu and D. A. Stringer

sion from adjacent nodes, large discrete ulcers, sinus, gery is reserved for persistent obstructive symptoms
or fistulous tracks. (MATZINGER and DANEMAN 1983).

22.4.1.4 22.4.1.4.3
Rare Types of Non-infective Oesophagitis Crohn's Disease

Crohn's disease rarely affects the oesophagus in chil-

22.4.1.4.1
Epidermolysis Bullosa
Epidermolysis bullosa is the most common of the
rare types of oesophagitis. It is a congenital, heredi-
tary blistering disorder of the skin and mucosa, the
appearance of blisters being related to mild trauma.
There are two types of the disease, the simple and the
dystrophic. The simple form does not scar; lesions
appear after slight trauma but then heal. The dystro-
phic form can be mutilating and is potentially lethal.
It is inherited either as a dominant (two types) or
as a recessive condition, the recessive being the most
severe. In the recessive form, the oesophagus and
mucous membranes are affected, often leading to dys-
phagia due to strictures (TISCHLER et al.I983). Bullae
can form in the mucous membranes of the oesopha-
gus, pharynx, tongue, buccal membranes, and trachea
(DUPREE et al. 1969; BURKHART and RUPPERT 1981;
THlERS 1981; SHACKLEFORD et al. 1982) The bullae
may heal without causing permanent damage but
can also ulcerate, bleed, and progress to strictures
or, rarely, webs (BECKER and SWINYARD 1968; HIL-
LEMElER et al. 1981).
dren and gives a radiological appearance similar
to that in adults, particularly mucosal ulceration
and stricture formation. Filiform post-inflammatory
polyps in the oesophagus, reported in adults, have
not yet been seen in children (COCKEY et al. 1985).
22.4.1.4.4
Graft Versus Host Disease
Chronic graft versus host disease is an immunologi-
cal disorder that can occur following bone marrow
transplantation for severe aplastic anaemia, immu-
nodeficiency disorders, and certain malignancies.
The donor lymphocytes damage host tissues, in par-
ticular the skin, liver, and intestinal mucosa The
oesophagus can also be affected, resulting in dys-
phagia, chest pain, and weight loss (McDONALD et
al. 1984). Radiologically, webs and tapering stric-
tures in the mid and upper oesophagus may be seen
(McDONALD et al. 1984).

22.4.1.4.2
Eosinophilic Gastroenteritis

Eosinophilic gastroenteritis is an uncommon condi-

tion of unknown aetiology characterised by periph-
eral eosinophilia and infiltration of the gastrointes-
tinal tract with eosinophils.
Eosinophilic infiltration of the oesophagus is rare,
but it can produce strictures (Fig. 22.23) (MATZINGER
and DANEMAN 1983; FECZKO et al. 1985). Eosinophilic
oesophagitis presents with dysphagia, which may be
superimposed on symptoms caused by involvement
of other parts of the gastrointestinal tract (MATZ-
INGER and DANEMAN 1983; FECZKO et al. 1985).
On barium examination, the findings vary from
a normal swallow with abnormal manometry and
biopsy findings to irregular mucosa and stricture
formation (DOBBINS et al.I977; LANDRES et al. 1978;
PICUS and FRANK 1981; MATZINGER and DANEMAN Fig. 22.23. Oesophageal narrowing from eosinophilic gastro-
1983). The clinical course is generally self-limiting; enteritis. A long stricture with a tapered upper end is present
steroids are used for more severe cases, while sur- in the mid oesophagus
The Oesophagus
22.4.1.4.5
Miscellaneous Rare Causes of Oesophagitis
Iatrogenic oesophagitis may result from radiation
(LEPKE and LIBSHITZ 1983) or medication (CRE-
TEUR et al. 1983; DAUNT et al. 1985). The radiological
features of oesophagitis following radiation include
abnormal motility with or without mucosal oedema,
stricture formation, ulceration, or fistula formation
(LEPKE and LIBSHITZ 1983). Radiation-induced
injury occurs more frequently and rapidly if there is
adjuvant chemotherapy.
Many medications have been implicated in the pro-
duction of oesophagitis including Vibramycin (dox-
ycycline), tetracycline, and quinidine. The diagnosis
has often been made endoscopically in the past on the
evidence of redness and friability of the oesophageal
mucosa, erosions, ulcers, and strictures. The erosions,
variable-sized ulcers, and strictures can all be seen
on double contrast barium examinations (CRETEUR
et al. 1983; DAUNT et al.1985), which are preferable to
endoscopy in small children. The oesophagitis is rela-
tively benign and generally improves following cessa-
tion of medication and symptomatic therapy.
In contrast to this, toxic epidermal necrolysis is
a generalised disease, usually with high mortality,
which also has been linked to many antibiotics and
other medications that can result in oesophagitis
(HERMAN et al. 1984).
22.4.2
Neoplasms of the Oesophagus
Oesophageal tumours, both benign and malignant,
are very rare in children.
22.4.2.1
Benign Tumours
Leiomyomas (SCHMIDT and LOCKWOOD 1967; LEVINE
et al. 1996) haemangiomas (GOVONI 1982; WESEN-
BERG 1982), hamartomas (DIETER et al. 1970a),
and angiofibromatous polyps (DIETER et al. 1970b;
STYLES 1985) have all been reported in children.
The most common symptoms are those of dyspha-
gia, regurgitation, and vomiting, although respiratory
difficulties can predominate.
Oesophagography is the preferred initial examina-
tion by which to demonstrate oesophageal tumours,
although both it and oesophagoscopy may result
in false negatives. If the oesophagogram reveals a
smooth or crenated filling defect, CT with oral and
313
intravenous contrast or endoscopy or MRI should be
used to determine the nature of the lesion.
22.4.2.2
Malignant Tumours
Oesophageal carcinoma is exceptionally rare in chil-
dren; sometimes it follows lye ingestion (KINNMAN
et al. 1968), or it may arise spontaneously (MOORE
1958). The radiological features are similar to those
seen in adults: mucosal irregularity with or without
a mass lesion, which may be ulcerated and cause
obstruction.
Lymphomas are more common tumours in child-
hood. They may affect the oesophagus by extrinsic
pressure and may also compromise the tracheo-
bronchial tree (MANDELL et al. 1982). No distinctive
appearance of malignant tumours in children has
been found: they are similar to the irregular destruc-
tive mass lesions or strictures seen in adults.
22.4.3
Trauma to the Oesophagus
22.4.3.1
Swallowed Foreign Body
Swallowed foreign bodies are common in paediatric
practice due to the propensity of children to put
things in their mouth (Fig. 22.24). Coins are gener-
ally the most commonly swallowed foreign bodies
found in children (FRANKEN and SMITH 1982c).
Most swallowed foreign objects pass through the
bowel unimpeded and without complication. Of for-
eign bodies that impact, 80% do so at the level of
the thoracic inlet below the cricopharyngeus (NANDI
and ONG 1978). Less commonly, a few foreign bodies
impact at the level of the left main bronchus, and
fewer impact just above the gastro-oesophageal
sphincter. If impaction occurs at any other level as
seen on plain film, an underlying anomaly should
be assumed unless it is proven otherwise by exami-
nation. Thus, a barium study would be indicated
if endoscopy has not already been performed. The
underlying anomaly is most commonly a stricture,
such as may follow the repair of tracheo-oesophageal
fistula and oesophageal atresia (Fig. 22.25). Other
anomalies include congenital strictures (JEWS BURY
1971), webs, or extrinsic masses, as well as the more
common acquired strictures from oesophagitis.
Although many children give a history of foreign
body ingestion, some cases may be unsuspected and
314 S. R. Koltamasu and D. A. Stringer

FOREIGN BODIES FROM AIR PASSAGES ~ :8 ~;q .'

.- . I -
'244 1247 124 8 1 1 125

.
--- -- ..
~ ."

-. .
,6 III' 1120 11211123 112511291130 113~ IIUII34 1137. 1141 1142114411451149 1151 1156 1157 115ll.1162 1163

~ ~ "
I <: .,
1166, 1167 1168 116~ 1171 11741177 1179 1184 11.8 119211951197120212041205 1206 1208 1209 1200 1211 ,;

1215 .2.. 1219 1220 FOREIGN BODIES FROM FOOD PASSAGES '221 1222 '226 1229 '2

1113 1114 1117 1119 1122 1124 1126 1127 U21 113:l "35 1136 1131 1146 ",

1176 1111

<?
ee
1200 1201 1203 1207 1214

• •••
1232 1233 1234 '235 1236 '237

G == t:) /7 Fig. 22.24. Foreign bodies

removed from the oesoph-

._til agus over an 8-month

1239 1240 1241 1243 124$ 1246 1249 1251 1252 1254 .255 1256 '257

Pcrt04 period

present with gastrointestinal or, less commonly, respi-

ratory symptoms. Such symptoms include dyspha-
gia, drooling, gagging, vomiting, and poor feeding
(NEWMAN 1978). Respiratory symptoms are more
common in young children, in whom an oesopha-
geal foreign body is more likely to impinge on the
trachea, producing wheezing and stridor (NEWMAN
1978; BEER et al. 1982).
The diagnosis of an oesophageal foreign body
needs to be made quickly so that it can be removed
promptly. A foreign body impacted in the oesopha-
gus is unlikely to pass spontaneously. The longer a
foreign body remains impacted, the more difficult
it is to remove and the greater the risk, as oedema
from the attendant local trauma grips the object
more firmly and manipulation becomes more diffi-
cult (NANDI and ONG 1978; TOWBIN et al. 1989a, b;
MACPHERSON et al. 1996).
Ensuing complications may include stenosis, ulcer-
ation, or perforation of the oesophagus. The latter
can result in local infection with abscess formation
or mediastinitis (NANDI and ONG 1978), tracheo-
Fig. 22.25. Oesophageal reflux stricture with food bolus impac-
tion. A food bolus is impacted at a stricture in the lower oesophageal fistula (NEWMAN 1978), or oesophago-
oesophagus aortic fistula (NANDI and ONG 1978).
The radiological investigation of foreign body
ingestion initially consists of plain films. All areas
must be surveyed, but usually a combination of fron-
tal and lateral abdomen, chest, and lateral neck plain
radiographs are sufficient to localise a radiopaque
foreign body.
The Oesophagus
A coin will lodge in the oesophagus so that its flat
surfaces face anteriorly and posteriorly and hence
on a lateral film will appear side on (Fig. 22.26). A
coin in the trachea tends to lie at right angles to this,
with the flat surfaces facing sideways. However, not
all foreign bodies are radiopaque (NEWMAN 1978).
The frontal view of the neck is not useful. Some types
of fish bones are radiopaque and others are easily
missed on plain radiographs (CAMPBELL et a1. 1968;
ELL and SPRIGG 1991), while aluminium can tops
are of surprisingly low radiodensity and may easily
be overlooked on radiological examination (BURR-
INGTON 1976; EGGLI et a1. 1986). Barium studies are
useful in the diagnosis of radiolucent foreign bodies
(NEWMAN 1978); however, barium may itself obscure
small foreign objects (CAMPBELL et a1. 1968).
Prompt endoscopic removal is recommended for a
sharp-edged foreign body because of its potential for
wall penetration and perforation. Likewise, small disk
batteries, such as those used in electronic watches
and calculators, should be removed without delay to
prevent caustic erosion and perforation (SHAFFER
et a1. 1986). Blunt, smooth foreign bodies such as
coins which have been present for less than 24 h may
be removed with a Foley catheter (CARLSON 1972;
SHACKLEFORD et a1. 1972). However, this technique is
extremely controversial.
Fig. 22.26. Coin in the oesophagus. A coin lodged in the
oesophagus will appear end on in the lateral view. Coins in the
trachea appear face on
315
If a foreign body is missed and becomes impacted
in the oesophagus, a perforation is likely to occur, and
the patient may be referred some time after the event
with no history of foreign body ingestion. The radi-
ologist may be the first to suggest the diagnosis. Plain
films may show localised air in the mediastinum.
Barium studies can outline the cavity arising from
the oesophagus (Fig. 22.27).
22.4.3.2
Iatrogenic Perforation
22.4.3.2.1
Infants
In infancy, and especially in the new-born preterm
infant, instrumentation with laryngoscope, endotra-
cheal intubation, and feeding tube manipulation can
all lead to submucosal or transmural perforation
of the pharynx or oesophagus (EKLOF et a1. 1969;
TUCKER et a1.1975; LEE and KUHN 1976; TOULOUKIAN
et a1. 1977; GRUNEBAUM et a1. 1980; FAERBER et a1.
1980). This is being increasingly recognised (FAERBER
et a1.1980), and although thought at first to be associ-
ated with a fulminating course and high mortality
(LEE and KUHN 1976), if it is recognised and treated
Fig. 22.27. Foreign body perforation. Barium during a barium
swallow outlines a cavity arising from the oesophagus. This
diverticulum was chronic
 316
promptly by antibiotics and removal of any feeding
tube, the outlook is good and surprisingly free of
sequelae. Occasionally, it may even go unrecognised at
the time and its occurrence be discovered by chance
at a later date (FAERBER et al. 1980). The perforation
often occurs high at or above the pharyngo-oesoph-
ageallevel and a feeding tube may track through the
mediastinum and on into the abdomen.
The clinical presentation may mimic that of oesoph-
ageal atresia, with excessive salivation, choking, cough-
ing, and failure to pass a nasogastric tube. The diagnosis
is made by careful examination of plain films that can
demonstrate subcutaneous emphysema in the neck or
a pneumomediastinum (AMODIO et al. 1986). The loca-
tion of feeding tubes should always be carefully assessed
(Fig. 22.28). Instilling iso-osmolar water-soluble con-
trast medium down the tube may be helpful in the few
cases where there is diagnostic difficulty (Fig. 22.28).
22.4.3.2.2
Older Children
Iatrogenic perforation in older children is similar to
that seen in adults (PARKIN 1973). In older children
iatrogenic perforation can occur following feeding
tube placement, oesophagoscopy, bougie dilatation,
a b
S. R. Kottamasu and D. A. Stringer
and sclerotherapy for varices. The perforation may
be incomplete with haematoma formation (BRADLEY
et al. 1979), or it may perforate adjacent structures
such as the pleura. Due to the arrangement of the
pleura, adjacent to the mid oesophagus on the right
and the lower oesophagus on the left, the collection
of fluid or air will be on the right if the perforation
is in the mid oesophagus and of the left if it is in
the lower oesophagus. Pneumomediastinum, pneu-
moperitoneum, or cervical emphysema (HAN et al.
1985) may all occur depending on the site of perfora-
tion. Again, instilling iso-osmolar water-soluble con-
trast medium down the tube may be helpful in the
few cases where there is diagnostic difficulty.
Ventriculoperitoneal shunt tips occasionally
migrate to unusual locations. At our hospitals we
have seen the intra-abdominal portion perforate the
rectum and appear from the anus. In another unusual
instance a patient presented complaining of a leaking
tube coming out of the mouth.
22.4.3.3
Mol/ory-Weiss Syndrome
The Mallory-Weiss syndrome is rare but is occasion-
ally reported in children. It consists of a lower oesoph-
Fig. 22.28a, b. Pharyngo-oesophageal
perforation. a A feeding tube tracks an
unusually straight and more posterior
course than is usual for a naso-oesoph-
ageal tube on the lateral chest radio-
graph. b A low-ionic water-soluble con-
trast swallow shows a large posterior
track
The Oesophagus
ageal mucosal tear, best seen endoscopically, though
occasionally demonstrated on oesophagogram.
22.4.3.4
Boerhaave's Syndrome
Boerhaave's syndrome of spontaneous oesophageal
rupture occurs in children and infants but is more
common in adults. The radiological appearances are
different in neonates from those in adults (AARON-
SON et al. 1975). The mechanism of rupture is uncer-
tain, but the following factors have been implicated:
increased pressure in the oesophagus due to crico-
pharyngeal incoordination during swallowing; vom-
iting; and increased pressure during delivery (DUBOS
et al.I986). The infant usually presents within 48 h of
birth. Clinically, progressive respiratory distress with
dyspnoea and cyanosis occurs due to the formation
of a tension hydropneumothorax. Occasionally, blood
regurgitates into the mouth.
Radiographic examination of the chest in infants
typically shows a right-sided hydropneumothorax. In
adults with Boerhaave's syndrome, the hydropneu-
mothorax tends to be left-sided. The difference may
be due to the more right-sided position of the neona-
tal oesophagus (HARELL et al. 1970). The diagnosis
of gut perforation can be confirmed by a non-ionic
water-soluble contrast medium oesophagogram.
22.5
Disorders of the Oesophagus Associated
with Abnormal Swallowing
Abnormalities of swallowing can be classified as ana-
tomical, neuromuscular, or a combination of both.
Anatomical abnormalities in the neonate such as
cleft palate, macroglossia, or micrognathia are usu-
ally obvious on clinical examination.
Many neuromuscular disorders may affect swal-
lowing (see Table 22.1). Myelomeningocele can result
in poor bolus formation, nasopharyngeal reflux, and
aspiration. Cerebral palsy, the collagen disorders,
achalasia, and chronic granulomatous disease are
considered in more detail below.
22.5.1
Cerebral Palsy
Cerebral palsy is the most common cause of dis-
ordered swallowing in infancy when no anatomic
317
Table 22.1. Neuromuscular causes of swallowing disorders.
(Reproduced from STRINGER and BABYN 2000, by permission)
Bulbar and pseudobulbar palsies
Cerebral palsy - common
Cranial nerve palsies - V, VII, IX, X, XI, XII
Cricopharyngeal dysfunction
Dermatomyositis
Familial dysautonomia (Riley-Day syndrome)
Infections
Acute infectious polyneuritis
Diphtheria
Poliomyelitis
Tetanus
Myelomeningocele
Muscular dystrophy
Myasthenia gravis
Myotonia dystrophica
Scleroderma
Syndromes
De Lange's
Mobius'
Prader-Willi
abnormality is seen. In cerebral palsy, swallowing
becomes worse with age, whereas functional defects
associated with prematurity, improve. A modified
barium swallow under fluoroscopy can be most help-
ful. The child is placed in the position in which the
he or she is usually fed. Then the parent, with the
occupational therapist present, can feed fluid, semi-
solid or solid food mixed with barium to assess the
effectiveness of the normal type of feeding in that
child. The child with cerebral palsy often has most
difficulty in forming an adequate bolus due to tongue
dysfunction (CHEN et al. 1990). The feeding tech-
nique can be modified during the procedure to find
the most effective method that may incorporate vari-
ous teats or a different size, shape or position of the
spoon. If aspiration is detected on the study, place-
ment of a gastrostomy is considered. Prior to any gas-
trostomy, the competence of the gastro-oesophageal
junction is assessed, as reflux is common in children
with cerebral palsy, and if necessary an anti-reflux
procedure can be performed at the time of gastros-
tomy tube placement.
22.5.2
Scleroderma (Progressive Systemic Sclerosis)
Scleroderma (progressive systemic sclerosis) is a
well-established cause of disordered oesophageal
motility in adults. It is rare in children and findings
are similar to those seen on oesophagograms in
318
adults. The major signs are distal oesophageal dys-
motility and reflux, often with oesophagitis (TATEL-
MAN and KEECH 1966). Secondary to the oesophagi-
tis, columnar metaplasia (Barrett's oesophagus) may
develop with an associated increased risk of adeno-
carcinoma (HALPERT et al. 1983). Squamous cell car-
cinoma has also been reported.
The plain films or barium studies will show
oesophageal dilatation due to atrophy and fibrous
replacement of the smooth muscle. Rarely, systemic
lupus erythematosus may be evident in conjunction
with the scleroderma producing oesophageal dys-
motility (DABICH et al. 1974).
22.5.3
Dermatomyositis
The most common and early finding on oesopha-
gograms in patients with dermatomyositis is naso-
pharyngeal reflux due to reduced hypopharyngeal
muscle tone. The valleculae and piriform sinuses
broaden and the upper oesophagus dilates (GRUNE-
BAUM and SALINGE 1971). The vasculitis affecting
bowel may, rarely, cause ulceration (STEINER et al.
1974) or even perforation (Fig. 22.29).
Other manifestations of dermatomyositis include
chronic pulmonary parenchymal disease, acro-oste-
olysis, and soft tissue calcification. The soft tissue cal-
cification is present in at least 40% of patients.
Fig. 22.29. Dermatomyositis: Oesophageal ulceration and per-
foration (arrows) arise secondary to the vasculitis
S. R. Kottamasu and D. A. Stringer
22.5.4
Achalasia
Oesophageal achalasia is a neuromuscular disorder
due to absence of the myenteric plexuses in the lower
oesophagus and manifests with abnormal motility
and failure of relaxation of the distal oesophagus.
Achalasia is usually encountered in adults between
the third and fifth decade of life. Less than 5% of cases
involve children under the age of 14 years (MOERSCH
1929; OLSEN et al. 1953) and most are older chil-
dren; however, subjects of any age can be affected,
with occasional reports of achalasia as early as
infancy (MAGILNER and ISARD 1971; AscH et al.1974;
MOAZAM and ROGERS 1976; STARINSKY et al. 1984).
A family history is seldom present, but it may be
inherited as an autosomal recessive disorder (WEST-
LEY et al. 1975).
Dysphagia is the most common symptom of acha-
lasia (MURALIDHARAN et al. 1978) and is usually
worse with solid foods. Regurgitated food on the
child's pillow is a characteristic sign (SORSDAHL and
GAY 1965). Up to a third of children with achalasia
suffer from pulmonary complications (SORSDAHL
and GAY 1965), which are usually secondary to aspi-
ration and may be accompanied by a nocturnal cough
and stridor (TASKER 1995). A rare syndrome of acha-
lasia of the oesophagus, alacrima (decreased tear pro-
duction), and ACTH insensitivity has been reported
(AMBROSINO et al. 1986; TUCK et al. 1991) and is
referred to as triple A syndrome. The chest radio-
graph may show an air-filled dilated oesophagus
(HOUSE and GRIFFITHS 1977) with or without a gas-
fluid level, and the stomach gas bubble may be absent
in approximately a third of patients (MURALID-
HARAN et al. 1978). Initially the oesophagogram
shows disordered motility; in long-standing achala-
sia, the oesophagus is dilated and the obstruction
obvious (Fig. 22.30a).
Manometric studies in children may be useful in
the early diagnosis of achalasia. They demonstrate
that the obstruction in achalasia is not due to spasm
of the oesophagus and cardia (WILLICH 1973). Tran-
soesophageal ultrasonography shows promise in the
evaluation of achalasia, demonstrating thickening of
the circular and longitudinal muscle layers at the lower
oesophageal sphincter (ZIEGLER et al. 1990). Amyl
nitrite has been used during a barium swallow to dis-
tinguish achalasia from pseudo-achalasia (DODDS et
al. 1986). The value of this in children is not certain.
Achalasia is associated with a risk of oesophageal
carcinoma, which usually occurs in the middle third
of the oesophagus, corresponding to the top level of a
 The Oesophagus
Fig. 22.30. Achalasia. a The barium swallow shows a markedly
dilated barium-filled oesophagus with characteristic tapering
and obstruction. b A balloon catheter (B) is positioned and
dilated within the narrowing
column of retained food (Fig. 22.31), and is probably
a result of chronic irritation (CARTER and BREWER
1975). In children, with their long life expectancy, a
myotomy is generally the preferred treatment. How-
ever, balloon dilatation has been used in adults
to treat achalasia (AGHA and LEE 1986), and may
be useful in children (Fig. 22.3Gb). This technique
requires more investigation, especially as it is not
without complications, with perforations occurring
in 4%-6% (ZEGEL et al. 1979; STEWART et al. 1979;
OTT et al.1984). Post-dilatation contrast swallows are
useful in demonstrating perforations.
22.5.5
Chronic Granulomatous Disease
Chronic granulomatous disease, a dysfunction of the
leukocytes that predisposes to chronic infections, has
been reported to markedly affect oesophageal motil-
ity. This can even result in aperistalsis or irregular
peristalsis requiring gastrostomy feeding for nutri-
tion (MARKOWITZ et al. 1982).
319
b
22.6
Miscellaneous Disorders
of the Oesophagus
22.6.1
Webs of the Upper Oesophagus
Upper oesophageal webs may be associated with
iron deficiency anaemia in adolescents, an anaemia
common at this age (CRAWFORD et al.1965; MACLEAN
and HOUGHTON-ALLEN 1975). Other causes of
oesophageal webs include pemphigus, epidermolysis
bullosa, and radiation therapy (FRANKEN and SMITH
1982d). Lower oesophageal webs are also rare in chil-
dren and may be related to gastro-oesophageal reflux
(WEAVER et al. 1984).
22.6.2
Diverticula of the Oesophagus
Congenital diverticula are extremely rare in the
oesophagus. Congenital posterior midline pharyngo-
320
Fig. 22.31. Achalasia. The
dilated barium-filled
oesophagus is partially
filled with retained food
oesophageal diverticula have been reported. Acquired
diverticula can occur secondary to trauma (GIRDANY
et al. 1969) during nasogastric intubation (OSMAN
and GIRDANY 1973). They may be asymptomatic,
found only when a foreign body impacts in them, or
they may simulate oesophageal atresia (BRINTNALL
and KRIDELBAUGH 1950; NELSON 1957; THEANDER
1973; MACKELLAR and KENNEDY 1972).
Traction and pulsion diverticula are uncommon
in children but occasionally seen in older children.
It is similar to that seen in adults and consists of a
posterolateral outpouching through Killian's dehis-
cence, a site of potential weakness at the junction
of the inferior constrictor and cricopharyngeus mus-
cles. An underlying anomaly such as cutis laxa may
predispose to diverticulum formation (Fig. 22.32).
22.6.3
Intramural Diverticulosis of the Oesophagus
Intramural diverticulosis is a rare disorder associ-
ated with dysphagia and is usually seen in adults
(CASTILLO et al.1977). It is very rare in children; only
a few cases have been documented between the age
of 5 years (BRAUN et al. 1978; PETERS et al. 1982) and
adolescence (WELLER 1972; CRAMER 1972; BRAUN et
S. R. Kottamasu and D. A. Stringer
Fig. 22.32. Pharyngo-oesophageal diverticulum. A posterolat-
eral diverticulum (arrow) found in a 6-month-old girl with cutis
laxa probably represents a pulsion or Zenker's diverticulum
al. 1978; PETERS et al. 1982; MARKLE and HANSON
1992).
The "diverticula" are dilated oesophageal glands
that have become obstructed by desquamated squa-
mous cells, hence they do not involve the entire wall
of the oesophagus and are therefore sometimes called
pseudodiverticula (CASTILLO et al. 1977; PETERS et
al. 1982).
The barium swallow appearance of the diverticula
is like a flask or collar stud, with a narrow neck and
wider base. Associated hiatus hernia, gastro-oesoph-
ageal reflux, and disordered motility may also be
present.
22.6.4
Varices of the Oesophagus
In children, oesophageal varices are usually second-
ary to portal hypertension. In most respects they are
similar to the varices of adults, with vermiform ves-
sels arising from below the diaphragm and passing
through the oesophagogastric junction.
Initial investigation can be sonographic to eval-
uate the echotexture of the liver and the presence
of portal vein and collaterals. Contrast investigation
with barium swallow follows that used in adults
The Oesophagus
(WALDRAM et al. 1977), except that in children anti-
spasmodics are used less, and the Valsalva and Muller
manoeuvres may be difficult to perform, especially in
the very young. The varices appear as vermiform fill-
ing defects in the lower oesophagus (Fig. 22.33). The
increase in intrathoracic pressure during crying may
mask small varices, but they can be seen to fill during
the gasp between cries with the patient lying hori-
zontally. The oesophagus should be examined with
small mouthfuls of dense barium (liquid or paste) for
good mucosal coating; occasionally a more diluted
barium demonstrates the varices better. The barium
study should also include the stomach and duode-
num to show other possible varices.
CT may demonstrate varices during dynamic con-
trast as dense rounded and tubular structures. CT
may also demonstrate gastric varices (BALTHAZAR
1984) as well as showing evidence of hepatic cir-
rhosis and portal cavernoma (STRINGER et al. 1985).
MRI can demonstrate varices by showing contrast
between flowing blood and the surrounding soft
tissue.
Fig. 22.33. Oesophageal varices. Serpiginous filling defects in
the lower oesophagus indicate varices
321
Endoscopy is a valuable technique in the assess-
ment of varices. One of the advantages of oesoph-
agoscopy is the ability to undertake sclerotherapy
during the procedure.
Digital subtraction angiography can demonstrate
varices in a number of ways including delayed films
on coeliac and superior mesenteric arteriography,
or immediate films on spleno-porto-cavography, or
percutaneous transhepatic portal or gastric coronary
venography. Percutaneous transhepatic embolisation
of gastro-oesophageal varices is a safe and effective
therapeutic procedure for the control of bleeding in
patients with gastro-oesophageal varices (L'HERM1NE
et al. 1989).
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23 Nuclear Medicine of the Thyroid
and Parathyroid Glands
D.1. GILDAY

CONTENTS thyroid gland, masses not even palpable clinically

are detectable; in fact, nodules less than 5 mm in size
23.1 Introduction 327 are now often watched by surgeons, rather than inves-
23.2 Thyroid Embryology 327 tigated. By correlating the clinical, anatomical, and
23.3 Thyroid Physiology 327
23.4 Examination Technique 328 functional imaging studies with the in vitro informa-
23.5 Indications for Scintigraphy 328 tion we are better able to define the nature of thyroid
23.5.1 Neonatal Hypothyroidism and Screening 328 disease in children.
23.5.2 Solitary Thyroid Masses 331
23.5.3 Goiter 331
23.5.4 Thyroid Carcinoma 332
23.6 Parathyroid Scintigraphy 332 23.2
References 332 Thyroid Embryology

Embryologically, the thyroid arises from the ventral

23.1
Introduction
The investigation of thyroid disease has changed dra-
matically during the last 60 years. With the change
from clinical assessment alone to sophisticated imag-
ing and in vitro techniques we now can readily diag-
nose and treat many of the pediatric thyroid diseases.
With the introduction of radioactive iodine uptake
in the early 1940s through radionuclide scanning in
the 1950s and ultrasound in the 1970s, there has been
a tremendous improvement in our ability to mea-
sure and image thyroid function. The very sensitive
in vitro techniques that are now widely available
for measuring serum hormone concentrations have
improved our specificity and sensitivity in diagnos-
ing thyroid disease especially in the newborn. More
specifically, the ability to measure thyroid stimulating
hormone (TSH) and thyroid hormones has substan-
tially reduced the need to rely on clinical examination
and the venerable radioactive iodine uptake. Now,
with the wide availability of high-quality ultrasonog-
raphy to evaluate the texture and morphology of the
D.L.GILDAY
The Hospital for Sick Children, 555 University Avenue, Toronto,
Ontario, Canada M5G lX8
wall of the pharynx. It is a tubular structure, the thy-
roglossal duct, which as it moves caudally begins to
assume its ultimate bilobed configuration. Due to the
initial tubular structure and position of the primitive
thyroid tissue and its migration, there are opportuni-
ties for abnormalities to occur which can result in
aberrant or anatomically malformed thyroid glands
and persistent thyroglossal duct cysts.
23.3
Thyroid Physiology
The initial step in the synthesis of thyroxine is the
trapping of iodine by the thyroid follicular cell. The
activity of the iodine transport mechanism is influ-
enced by many physiological factors, the most impor-
tant being stimulation by TSH, a pituitary hormone.
TSH enhances iodine trapping. After iodine enters
the thyroid gland, a reaction occurs which involves
the oxidation of the iodide ion and the incorporation
of the oxidized iodide into monoiodotyrosine and
diiodotyrosine, which are bound to thyroglobulin.
This organification of the iodide is stimulated by
TSH and blocked by thiourea. The thyroid hormone
produced is released from the gland by pinocytosis
of thyroglobulin from the follicle. The thyroglobulin
matrix is then digested by proteolytic enzymes and
peptases which result in the formation 13 and T4
molecules, which are then released. The regulation of
328 D. L.Gilday

the release of T4 and T3 into the blood is controlled
by thyrotropin releasing hormone, a tripeptide which
is produced in the hypothalamus.
23.4
Examination Technique
The usual technique is to use 99mTc pertechnetate for
imaging approximately 10-15 min after administra-
tion or 123Iodide for imaging 24 h after administra-
tion. Children are examined supine with the neck
extended. A gamma camera equipped with a 2-mm
pinhole collimator is used for routine thyroid scintig-
raphy in all patients. Images obtained with the pin-
hole collimator usually have 25,000-150,000 counts.
Imaging time varies between 5 and 10 min. If pinhole
imaging is not available, converging collimation will
suffice except for the evaluation of small nodules.
The limit of resolution of the technique is probably
8-10 mm.
23.5
Indications for Scintigraphy
The commonest indication in children is abnormal
neonatal thyroid screening results, that is, a TSH
level of greater than 18-20 microunits per milliliter
(IlU/ml). Other indications are thyroid masses deter-
mined on ultrasonography or clinically by palpation,
and, finally, the treatment and evaluation of hyper-
thyroidism and thyroid carcinoma. The evaluation of
neck masses includes the possibility of thyroid tissue
being involved in a residual thyroglossal duct cyst.
23.5.1
Neonatal Hypothyroidism and Screening
An important cause of severe mental retardation is
congenital hypothyroidism. There is an estimated
one case in every 3,000-6,000 live births in America
and Europe (FISHER et al. 1976; FISHER 1983). As
the treatment can significantly improve the prognosis
and in fact prevent mental deterioration, early diag-
nosis is essential. The measurement of serum TSH
is a sensitive screening test which has a 95%-97%
sensitivity for the diagnosis of congenital hypothy-
roidism.
Primary congenital hypothyroidism is diagnosed
by the presence of elevated TSH and a low thyroxine
level. This is only a biochemical diagnosis, however. It
is with imaging that one can separate ectopic, hypo-
plastic thyroid, athyreosis, dyshormonogenesis, and
transient hypothyroidism. As thyroid scintigraphy
both accurately delineates the anatomy of the thyroid
gland and also to some degree indicates its function,
it is a very useful test in separating patients into one
of the four categories described by Wells et al. (l986):
(l) normal gland, (2) no detectable thyroid activity,
(3) normal localization with or without increased
size of the gland, and (4) ectopic location. Histori-
cally it has been determined that an ectopic gland is
found in approximately 45% of cases and athyreosis
in 35%, with 10% having a normal gland and 10%
other abnormalities (BROOKS et al. 1988). Our find-
ings are somewhat different as our population is a
heterogeneous one of 5.5 million. All infants with
abnormal screening results are investigated at The
Hospital For Sick Children, Toronto (Fig. 23.1). There
is considerable variation in the causes of neonatal
hypothyroidism (BROOKS et al. 1988; EL-DESOUKI et
al. 1995; LAW et al. 1998). With thyroid scintigraphy
widely available, it is easy to diagnose the cause of
the hypothyroidism, which is important so that any
medical decision regarding surgery or chronic ther-
apy does no harm to the child.. While in the great
majority of cases of neonatal hypothyroidism the dis-
ease is permanent, there are some patients in whom
the diagnosis is one of transient hypothyroidism
(CONNORS and STYNE 1986; DELANGE 1988; RAK-
OVER et al. 1990). It is very important to identify these
patients as they do not require lifelong replacement

.ENZYME DEFECT
-ATHYROTIC
olNOUAl THYRQO
oPOSSI8LE ENlYME DEFECT
-31%
_NORMAL
• ECTOPIC lHYROID l1SSUE
04% - PARllAlAOENESIS Fig. 23.1. The many causes of
neonatal hypothyroidism in a
o OTHER
.23% group of 90 neonates
 Nuclear Medicine of the Thyroid and Parathyroid Glands 329

therapy. Patients who have neither a lingual thyroid
nor an enzyme defect should have a trial of no ther-
apy. Usually thyroxine is discontinued for a 3-week
period some time after the second year of life. This is
safe and is adequate to confirm whether or not hypo-
thyroidism is permanent. Between 2% and 10% of
newborn cases of hypothyroidism will have transient
disease.
Any child who has a TSH level above 18 !lU/ml
requires evaluation to determine whether or not a
functioning thyroid is present. The evaluation is per-
formed by imaging the neck with a gamma camera,
using magnification 30 min after the injection of
99mTc pertechnetate. Anterior and lateral views of the
neck, chest, and face are obtained as two images. A
third image with a marker on the chin is sometimes
useful if a lingual thyroid is suspected from the other
images.
Approximately 6% of our neonates had a normal-
appearing thyroid gland (Fig. 23.2).
Absence of thyroid tissue on imaging may indicate
athyreosis (Fig. 23.3) or a thyroid that is not function-
ing at birth, but which will recover and be discovered
later to function normally.
Dyshormonogenesis involves a group of genetic
abnormalities, each of which has a specific enzyme
defect in the metabolic pathway of thyroid hormone
production. The inheritance is autosomal recessive
in most cases and is rare. These neonates present
with elevated TSH and the thyroid scan shows a

a b
Fig. 23.2a, b. Normal thyroid. There is functioning thyroid tissue seen in both a the anterior and b the left lateral view. TSH
was 125 IlU/ml

a b
Fig. 23.3a, b. Absent thyroid. There is no evidence of functioning thyroid tissue in either a the anterior or b the left lateral
view. TSH was 55 flU/ml
330 D. 1. Gilday

normal shape. The thyroid gland very actively traps presence of a normal thyroid gland has been estab-
the pertechnetate as the trap mechanism is overstim- lished, usually by ultrasound. Alternatively an assess-
ulated by the TSH (Fig. 23.4). ment can be made by thyroid scintigraphy to ensure
One of the common defects is an abnormality there is no thyroid tissue present in the thyroglossal
of the organification of iodine into tyrosine. This is duct cyst.
characterized by normal trapping of the iodine by Approximately one-third of infants detected by
the gland but no organification of the iodide. The our screening program had an ectopic thyroid as
rarely used perchlorate discharge test (el-Desouki et the only source of functioning thyroid tissue. The
al. 1995) can demonstrate the rapid elimination of the 99mTC pertechnetate scan shows a mass containing
unorganified iodide. the tracer at the base of the tongue (Fig. 23.5).
Failure of the descent of the thyroid gland from
its midline position at the base of the tongue results
in the lingual or sublingual thyroid. The back of the
tongue is the commonest site for ectopic thyroid; this
is the lingual thyroid. Sublingual or subhyoid thyroid
occurs when the thyroid tissue has not migrated cau-
dally but has left the embryonic position at the base
of the tongue (Montgomery 1936; Wells et al. 1986;
Law et al. 1998). Rarely, the thyroid tissue may enter
and be in the thoracic cavity in the retrosternal posi-
tion. Usually the ectopic thyroid gland is the patient's
sole functioning thyroid tissue. It is therefore impera-
tive to make the diagnosis of a lingual or sublingual
thyroid, as the mass of thyroid tissue may otherwise
be surgically removed, leading to permanent hypo-
thyroidism. Unfortunately, it has happened that a
sublingual or subhyoid ectopic thyroid gland has
been mistaken clinically for a thyroglossal cyst and
been removed surgically. Therefore, any thyroglossal
duct cyst surgery should only be carried out after the
a

Fig. 23.4. Dyshormonogenesis. The thyroid gland is seen to
trap the pertechnetate very actively as the trapping mech-
anism is being overstimulated by the TSH. TSH was 250
IlU/ml
b
Fig. 23.5a, b. Lingual thyroid. The only functioning thyroid
tissue is seen at the base of the tongue. Note the radioactive
marker on the chin in b, the left lateral view. TSH was 56
)lU/ml
Nuclear Medicine of the Thyroid and Parathyroid Glands 331

As can be seen in the example, the best view to
localize the lingual thyroid is the lateral, as in the
short neck of an infant it is hardy to locate the activ-
ity vertically. Incomplete movement of the thyroid to
the normal location can result in a deformed ectopic
gland.
ally is the first examination performed and it will
find the echogenic masses. Scintigraphy can be used
to determine whether the nodules are functioning
(Fig. 23.7).

23.5.2
Solitary Thyroid Masses

A solitary thyroid mass is usually investigated as

the result of a clinically palpable lump in a child with
normal thyroid function as confirmed by hormone
measurements; the mass is then studied by ultra-
sound and a lesion found. In the case of an echo-
genic mass, thyroid scintigraphy is carried out using
either 99mTc pertechnetate or 123Iodide scanning to
determine whether or not the mass is functioning a
(ALONSO et al. 1996). The cold nodule is usually seen
as a photopenic area surrounded by a rim of func-
tioning tissue (Fig. 23.6) or is seen as a concave
indentation into the thyroid tissue.

Fig. 23.6. Solitary cold nodule. There is a cold defect in the

lower pole of the right thyroid lobe as seen in the anterior
view

23.5.3
Goiter

Most goiters that are detected in infancy and child-

hood are secondary to maternal ingestion of goi-
trogens or an organification defect in T4 synthesis.
Most goiters seen in late childhood and adolescence
are due to either Grave's disease or thyroiditis, and
although multinodular goiters do occur, these are rel-
atively uncommon. The ultrasound examination usu-
c
Fig. 23.7a-c. Multinodular goiter. Multiple cold defects in the
lower pole of each thyroid lobe are seen in a the anterior, b the
left anterior oblique, and c the right anterior oblique views
332 D. 1. Gilday

23.5.4
Thyroid Carcinoma

Thyroid carcinoma is rare in pediatrics. There has

been a significant decrease in the incidence of thyroid
carcinoma in both adults and children due to the
decrease in the use of radiation to treat nonmalig-
nant neck disorders (Beahrs 1976; Ron et al. 1989).
Nevertheless, there is still an unexpected increased
incidence of thyroid carcinoma in children. The main
role of nuclear medicine is in the treatment and
follow up of these cancers.
After surgical removal of the thyroid, further abla-
tion with large doses (up to 3700 MBq) is usually car-
ried out. Subsequently whole-body 131Iodide scintig-
raphy is used to detect metastases as well as local
recurrence. Normal structures which will contain the
radioactive iodide are the choroid plexus, nasophar- 8

ynx, salivary gland, stomach, intestine, and bladder,

and this must be considered when interpreting the
scans.

23.6
Parathyroid Scintigraphy

Although hyperparathyroidism is uncommon in

childhood, the diagnosis of either parathyroid hyper-
plasia or an adenoma must be considered. When
either of these diagnoses is suspected from the bio-
chemical findings and a definite parathyroid mass is
not seen on ultrasound or CT, a 99rnTc-Iabelled sesta-
mibi study can be performed to determine if there is
an area of increased parathyroid metabolism.
Two-phase parathyroid imaging is performed
using 99rnTc-Iabeled sestamibi. There is very rapid b
uptake of 99rnTc-Iabeled sestamibi by both thyroid Fig. 23.88, b. Parathyroid adenoma. a There is a hyperactive
and parathyroid parenchyma. Usually both a regular focus of 99mTc-labeled sestamibi in the lower pole of the right
static image is acquired for general orientation and thyroid lobe. b In the 180-min image the thyroid has washed
out, leaving the tracer just in the parathyroid adenoma
then a magnification view using a pinhole collimator
at 10 min and a second at 3 h (Taillefer et al. 1992).
The thyroid activity decreases significantly more rap-
idly than the parathyroid adenoma activity during
the 3 h after injection, and therefore hyperactive References
parathyroid tissue will retain the tracer after the thy-
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MIBI in patients with solitary cold single nodules on per-
pler technique than the previous one using thallium
technetate imaging. Clin Nucl Med 21:363-367
as the combined thyroid and parathyroid marker and Beahrs OH (1976) Workshop on late effects of irradiation to
99rnTc pertechnetate as the thyroid marker and then the head and neck in infancy and childhood. Radiology
performing a subtraction scan. 120:733-734
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Brooks PT, Archard ND, et al (1988) Thyroid screening in con-
genital hypothyroidism: a review of 41 cases. Nucl Med
Commun 9:613-617
Connors MH, Styne DM (1986) Transient neonatal 'athyreo-
sis' resulting from thyrotropin-binding inhibitory immu-
noglobulins. Pediatrics 78:287-290
Delange F (1988) Neonatal hypothyroidism: recent develop-
ments. Baillieres Clin Endocrinol Metab 2:637-652
El-Desouki M, al-Jurayyan N, et al (1995) Thyroid scintigraphy
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Fisher D (1983) Second international conference on neo-
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Fisher D, Burrow G, et al (1976) Recommendations for
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24 Salivary Glands
SUSAN J. KING

CONTENTS main salivary gland duct presents as intermittent

swelling of a salivary gland. Inflammatory disease
24.1 Introduction 335 causes pain and swelling of the gland; neoplasms
24.2 Normal Anatomy 335 present as a lump in the gland or floor of the mouth.
24.2.1 Parotid Glands 335
24.2.2 Submandibular Glands 336 Lack of function of the salivary glands may result in
24.2.3 Sublingual Glands 336 symptoms of a dry mouth.
24.3 Types of Imaging Investigation 336 This chapter will discuss normal anatomy of the
24.3.1 Plain Radiography and Contrast Sialography 336 salivary glands, the range and applications of imaging
24.3.2 Ultrasonography 336 investigations, and salivary gland disorders. Empha-
24.3.3 Computed Tomography 336
24.3.4 Magnetic Resonance Imaging 336
sis will be on common problems and appropriate
24.3.5 Scintigraphy 337 imaging investigations.
24.4 Disorders of the Salivary Glands 337
24.4.1 Masses 337
24.4.2 Benign Neoplasms 337
24.4.2.1 Pleomorphic Adenoma 337
24.4.2.2 Haemangioma 337 24.2
24.4.2.3 Lymphangioma 338 Normal Anatomy
24.4.2.4 Warthin's Tumour 338
24.4.3 Malignant Neoplasms 338 24.2.1
24.5 Sialectasis 339 Parotid Glands
24.5.1 Sialolithiasis 339
24.6 Inflammatory Conditions 340
24.6.1 Infection 340 The parotid glands are the largest of the major sali-
24.6.2 Autoimmune Disease 341 vary glands. They lie between the mastoid process
24.6.3 Granulomatous Disease 341 and the sternocleidomastoid muscle posteriorly and
24.6.4 Ranula 342 the masseter muscle and ramus of the mandible ante-
24.6.5 Congenital Disorders 342
24.6.6 Iatrogenic Disease 342 riorly. The facial nerve divides the gland into super-
24.6.7 Mimics 343 ficial and deep lobes. The deep lobe is medial to the
References 343 facial nerve and lateral to the parapharyngeal space.
The facial nerve cannot be imaged using ultrasound,
computed tomography (CT) or routine magnetic res-
onance imaging (MRI), but its position is inferred
24.1 because it lies superficial to the main intraparotid
Introduction vessels, which are readily seen. These vessels consist
of branches of the external carotid artery medially
The main salivary glands consist of three pairs of and the retromandibular vein laterally. Lymph nodes
major glands, the parotid, the submandibular and are related to the parotid gland in three groups:
the sublingual glands, and numerous minor salivary - Preauricular, extraparotid
glands. Children present with a similar range of prob- - Preauricular, subcapsular, extraglandular
lems of the salivary glands as adults, although inflam- - Intraglandular, intraparenchymal within the fascia
matory lesions are most common. A calculus in a between superficial and deep lobes
The intraparotid ducts drain into Stensen's duct
which runs over the masseter muscle and through the
S.J. KING, Consultant Paediatric Radiologist, Bristol Royal Chil- buccinator muscle to open in the mucosa of the cheek
dren's Hospital, Upper Maudlin Street, Bristol, BS2 8BJ, UK at the level of the upper second molar tooth.
336 S. J. King

24.2.2
Submandibular Glands

The submandibular gland lies in the submandibular

triangle bordered by the body of the mandible later-
ally and the mylohyoid muscle superiorly and medi-
ally. The gland is drained by Wharton's duct.

24.2.3
Sublingual Glands

Sublingual glands are minor salivary glands. They are

located in the floor of the mouth and are covered by oral
mucosa. Several tiny minor salivary glands are scat-
tered through the submucosa of the oral cavity except
for the gingiva and hard palate (ELLIS et al. 1991).
The sublingual and minor salivary glands cannot
normally be visualised by ultrasound.
Fig.24.1. Conventional sialogram demonstrates sialectasis
throughout the parotid gland

24.3 appropriate to use ultrasonography as the initial

Types of Imaging Investigation
24.3.1
Plain Radiography and Contrast Sialography
Plain radiographs are indicated before contrast sia-
lography when a calculus of the parotid or subman-
dibular gland is suspected. Calcified stones will be
demonstrated, and an intraoral view is required if
the stone is thought to be related to the subman-
dibular gland or ducts (CARTY 1994). Sialography
can be performed with conventional radiographs, but
digital subtraction radiography is preferable. Digital
subtraction techniques are now well established and
improve the conspicuity of the salivary gland duct
systems (ILGIT et al. 1992). Sialography should not
be performed during an acute episode of inflam-
mation of the gland and water-soluble contrast
medium should be used. General anaesthesia is
seldom required. Sialography will demonstrate radio-
lucent stones and sialectasis, which may occur sec-
ondary to obstruction of the duct by a stone
(Fig. 24.1).
imaging investigation for salivary gland problems. It
is quick, easy to perform, generally well tolerated and
does not entail using ionising radiation. Most salivary
gland masses can be fully assessed with ultrasound.
Further imaging is required if the mass is large or has
deep extension or if there is bone involvement.
24.3.3
Computed Tomography
CT may be used to investigate a salivary gland
lesion following on from ultrasound; the advent
of helical CT has significantly shortened scanning
times. Whether or not CT is used will depend partly
on local circumstances and the availability of MRI.
CT with intravenous contrast medium demonstrates
salivary gland lesions well and may help in the char-
acterisation of salivary gland tumours (CHOI et al.
2000), but carries a significant radiation burden.
24.3.4
Magnetic Resonance Imaging

24.3.2 Subject to its availability, MRI is generally preferred

Ultrasonography for further investigation of salivary gland lesions.
Children under the age of about 4 years may require
Modern ultrasound equipment gives excellent dem- a general anaesthetic or sedation for MRI or CT.
onstration of the salivary glands in children. It is MRI has the advantages of multiplanar capability, not
Salivary Glands
using ionising radiation, and, when fat suppression
or STIR sequences are used, that intravenous contrast
medium can be avoided. MRI sialography appears to
be useful to evaluate for sialectasis, mass lesions and
duct stricture. Calculi may be missed on MRI, but
when used together with control radiographs MRI
has a reported sensitivity of 100% (VARGHESE et al.
1999). Varghese et al. also report sensitivity, specific-
ity and diagnostic accuracy of 100%, 88% and 96%
respectively for salivary duct abnormalities.
24.3.5
Scintigraphy
Salivary scintigraphy can be useful to evaluate paren-
chymal function and excretion of all four major sali-
vary glands. It is easy to perform, is reproducible
and is generally well tolerated by children (KWT-
MANN et al.1999). Scintigraphy is useful to investigate
children with clinical features suggestive of Sjogren's
syndrome or other connective tissue diseases. It is
also useful to look for salivary duct obstruction if sia-
lography cannot be performed (WANG et al. 1992).
24.4
Disorders of the Salivary Glands
24.4.1
Masses
Tumours of the salivary glands are uncommon in
children and represent 1% of all paediatric tumours
(BIANCHI et al. 1978). Tumours of the parotid gland
are by far the most common. Up to 90% of salivary
gland neoplasms affect the parotid gland. Five per-
cent affect the submandibular gland and 5% the sub-
lingual gland.
24.4.2
Benign Neoplasms
Most salivary gland tumours in children are benign
(approximately 65%) and most frequently they are
haemangiomas or pleomorphic adenomas. Other less
common benign tumours include Warthin's tumour,
papillary cystadenoma, lipoma, neurofibroma, onco-
cytoma, lymphangioma, lymphoepithelial tumours,
hamartoma and xanthoma (KROLLS et al. 1972;
GRITZMANN 1989).
337
24.4.2.1
Pleomorphic Adenoma
Pleomorphic adenoma is the most common benign
tumour of the salivary glands. It usually presents
in older children or teenagers as a hard, mobile,
painless mass. The parotid gland is usually affected
(60%-90%) and a minority of tumours involve the
submandibular gland (BIANCHI and CUDMORE 1978;
KROLLS et al. 1972). The tumour usually shows slow
growth and local invasion, and only metastasises very
late. Ultrasonography is the first-line imaging inves-
tigation for a salivary gland mass. It has sensitivity of
100% for detection of a focal salivary gland tumour
and an accuracy of 94% for predicting benignity in
tumours larger than 1 cm in diameter (GRITZMANN
1989). Typical ultrasound features are of a well-
defined, solid mass with homogeneous low reflectiv-
ity. Posterior acoustic enhancement appears to be
a helpful diagnostic feature (AHUJA 1999). Pleomor-
phic adenoma may contain small calcifications seen
on ultrasound (GARCIA et al. 1998) (Fig. 24.2).
If further imaging is required, MRI is preferred to
CT because there is no radiation burden and intra-
venous contrast medium is not required. A combi-
nation of Tl-weighted spin echo and STIR images
provides good demonstration of salivary gland mass
lesions (CHAUDHURI et al. 1992).
24.4.2.2
Haemangioma
Haemangiomas are the next most common benign
salivary gland tumour. They usually present as a mass
Fig. 24.2. Pleomorphic adenoma. Longitudinal sonogram dem-
onstrates a well-defined solid mass with internal low reflectiv-
ity and posterior acoustic enhancement
338 s. J. King

before 6 months of age and affect the parotid gland. On ultrasonography malignant salivary neoplasms
They are seen more frequently in girls. If there is appear less well defined than benign masses, and
no arteriovenous component, spontaneous regression tend to be heterogeneous with abnormal increased
will usually occur (HERBERT et al. 1975). A cutane- vascularity.
ous haemangioma is frequently associated. Histologi- Fine-needle aspiration cytology under ultrasound
cal types are capillary haemangioma, cavernous hae- control for evaluating salivary gland masses is rarely
mangioma and haemangioendothelioma. The lesion performed in children, probably because general
may also contain elements of lymphangioma. anaesthesia is usually required for the procedure.
Haemangiomas are usually hypoechoic on ultra-
sound and may affect the whole or part of the parotid
gland, and have variable abnormal vascularity seen
on Doppler studies (GARCIA et al. 1998). Plain CT
may show areas of calcification in mixed vascular
lesions (Fig. 24.3).

24.4.2.3
Lymphangioma

Lymphangioma may affect the salivary glands but

is rarely confined to the gland. It is usually present
from birth and appears as a cystic, septated mass
on ultrasound. Spontaneous regression is extremely
unusual and lesions may be complicated by infection
or haemorrhage.
If further imaging is required for vascular lesions,
MRI is preferred to CT for the reasons stated above.

24.4.2.4
Warthin's Tumour a

Other benign tumours are very rare in children. War-

thin's tumour (adenolymphoma) is very unusual in
children; it appears as a well-defined, poorly reflec-
tive, cystic mass on ultrasound.

24.4.3
Malignant Neoplasms

Malignant salivary gland tumours are rare in small

children but less rare in adolescents (BIANCHI and
CUDMORE 1978). The majority (60%) are mucoepi-
dermoid carcinoma or acinic cell carcinoma. Other
malignant tumours include adenocarcinoma, cystic
adenoid carcinoma, squamous cell carcinoma, undif-
ferentiated carcinoma and rhabdomyosarcoma.
Malignant salivary gland lesions are usually symp-
tomatic and are usually diagnosed clinically as chil-
dren present with a rapidly enlarging mass, facial b
nerve dysfunction and lymphadenopathy.
Fig. 24.3a, b. Parotid vascular malformation. a Plain CT dem-
Lymphoproliferative disorders may present with onstrates foci of calcification within the right parotid gland. b
salivary gland enlargement (CHHIENG et al. 2000) Enhanced CT shows a mixed attenuation mass in superficial
(Fig. 24.4). and deep lobes of the parotid gland
Salivary Glands 339

Fig. 24.4. Salivary gland swelling in B-cell acute lymphoblas- Fig.24.5. Sialectasis. Longitudinal sonogram of a lobulated sep-
tic leukaemia. Coronal STIR image shows enlargement of the tated parotid gland with areas of low reflectivity located diffusely
right submandibular gland throughout the gland. Sialectasis was confirmed with sialography

24.5
Sialectasis

Sialectasis may be due to a range of conditions of the

salivary glands, including inflammatory and autoim-
mune diseases, and may occasionally be secondary to
obstruction of a duct by stones (KABAN et al. 1978).
There are clinical features of intermittent glandular
swelling and pain without signs of acute infection.
Ultrasound is usually the first investigation when
sialectasis is suspected, and the salivary gland shows
diffuse heterogeneous echotexture. Intraductal cal-
culi and dilated ducts may also be seen on ultrasound
(CHITRE and PREMCHANDRA 1997) (Fig. 24.5).Subse-
quently, sialography can be performed using conven-
tional radiographs, digital subtraction techniques or
MRI. Sialography demonstrates characteristic punc-
tate dilatation of the salivary ducts (Fig. 24.1). Sialec-
tasis is apparent on T2-weighted MRI and this
may obviate the need for more invasive imaging
(Fig. 24.6). Fig. 24.6. Sialectasis. T2-weighted MRI shows foci of high
signal intensity throughout the right parotid gland

24.5.1
Sialolithiasis
The majority of salivary calculi occur in the sub-
mandibular glands. Stones are usually radiopaque,
but they may be difficult to demonstrate on radio-
graphs, especially when in the parotid gland, because
of superimposed bone of the mandible. Occlusal
radiographs demonstrate calculi in the submandibu-
lar gland or ducts.
Ultrasound can be used to demonstrate stones and
is particularly useful for investigating the parotid
gland.
24.6
Inflammatory Conditions
24.6.1
Infection
The commonest cause of salivary gland swelling in
children is mumps, for which imaging investigations
are not required.
Suppurative infections are usually caused by Staph-
ylococcus aureus. Clinically there is rapid onset of
pain and swelling of a salivary gland and the symp-
toms resolve with antibiotic treatment. The infection
is usually unilateral and affects young children. The
parotid or submandibular glands may be affected.
Ultrasound can be helpful to define fluid collections
in the gland before surgical drainage is performed.
CT and MRI will also demonstrate abscesses well but
are more difficult to obtain in small children than
ultrasound studies (Fig. 24.7).
Recurrent acute parotitis appears clinically as
intermittent attacks of pain, fever and unilateral or
bilateral parotid swelling. Usually the child has no
underlying illness and there is no obvious cause. The
attacks usually start between the ages of 2 and 5 years
and cease in the teenage years (GARCIA et al. 1998).
Fig. 24.7. Suppurative infection of the parotid gland. Tl-
weighted enhanced MRI shows an abscess in the superficial
lobe of the left parotid gland with surrounding inflammation
extending into the deep lobe of the gland
The role of infection is unclear, although some chil-
dren benefit from treatment with antibiotics.
Sialography may be normal or show sialectasis and
normal duct function (KABAN et al.1978) or punctate
pools of contrast medium (RUBALTELLI et al. 1987).
Ultrasound demonstrates parotid gland enlargement
and multiple small hypoechoic areas 2-4 mm in
diameter, thought to represent peripheral sialectasis
and surrounding lymphocytic infiltration (NOZAKI
et al. 1994) (Fig. 24.8).
Infection caused by non-tuberculous mycobacteria
involves lymph nodes of the head and neck in other-
wise healthy children, and the salivary glands are well
recognised sites of infection (ROBSON et al.1999). The
parotid and submandibular glands may be affected.
The clinical appearances of cervico-facial non-tuber-
culous mycobacterial infection are characteristically
painless lymph gland enlargement with overlying vio-
laceous skin discoloration. The condition does not
respond to conventional antibiotic treatment.
Ultrasound is helpful to show enlargement of the
salivary gland and the extent of abscess formation.
CT is not usually required but demonstrates charac-
teristic ring-enhancing abscesses with extension into
the subcutaneous tissues.
HIV infection may cause painless bilateral parotid
gland enlargement and is associated with lung disease
(GODDART et al. 1990). The ultrasound and sialographic
appearances are similar to those of chronic or acute
recurrent parotitis (GARCIA et al.1998) and cervical ade-
nopathy is usually associated (GODDART et al.1990).
Fig.24.8. Sialadenitis. Longitudinal sonogram of the parotid
gland shows multiple small hypoechoic areas throughout the
gland, thought to represent sialectasis. There is a prominent
intraparotid lymph node (arrows)
 Salivary Glands
24.6.2
Autoimmune Disease
Chronic parotitis is usually bilateral and associated
with autoimmune diseases that include Sjogren's syn-
drome and systemic lupus erythematosus. Occasion-
ally salivary gland dysfunction, associated with sicca
syndrome, may be the presenting feature of an auto-
immune disease. Symptoms include dry eyes and
mouth. Ultrasound is helpful to determine whether
the salivary glands are involved. Initially the glands
have a normal echo pattern and may be normal in
size or enlarged. Later findings include diffuse areas
of low reflectivity in the gland, multiple cysts or dif-
fuse reticulation and lobulation of the gland margins
(AHUJA and METREWELI 1996) (Fig. 24.5). Features
of sialectasis may also be seen on ultrasonography
in sicca syndrome. If sialectasis is suspected, fur-
ther imaging is indicated with conventional sialog-
Fig. 24.9a, b. Sicca syndrome. a Sialogram demonstrates sialec-
tasis in the right parotid gland. b Scintigram shows reduced
excretion in the right parotid gland and lack of response to
stimulation by all four major salivary glands
341
raphy or MR sialography. Salivary gland scintigraphy
is helpful to document salivary gland dysfunction
(Fig. 24.9).
24.6.3
Granulomatous Disease
Granulomatous disorders of the salivary glands are
rare; they include cat-scratch disease and tubercu-
losis. Infection with non-tuberculous mycobacteria
has already been discussed. Cat-scratch disease is a
condition causing regional lymphadenopathy due to
Bartonella henselae. The diagnosis is usually sug-
gested when there is regional lymphadenopathy and
a history of a cat bite or scratch with or without a
skin lesion.
The head and neck are frequently involved. Cat-
scratch disease has been reported affecting the
b
 342
parotid gland (GARCIA et al. 1998). The authors
describe the changes in the parotid gland seen
on ultrasonography in this condition: they include
parotid gland swelling, hypoechoic lymphadenopa-
thy within the gland and a fluid component seen in
some children.
24.6.4
Ranula
A ranula is a mucocele originating from the sublin-
gual glands. There are two forms of ranula, the simple
intraoral type and the plunging ranula. Simple ranu-
las are much more common than plunging ranulas.
The latter are described in Chap. 13. The simple intra-
oral ranula is so named because it resembles a frog's
belly (the word is derived from the Latin rana, frog).
It appears as a blue-ish, superficial, slow-growing,
non-tender mass with a true epithelial lining (TAVILL
et al. 1995). It is usually on one side of the mouth,
although it may cross the midline, and may be recog-
nised at any age including infancy. On imaging it
appears as a simple or complex cyst. The latter
is referred to as an extravasation type if there is
duct obstruction and rupture with leakage of saliva
into the soft tissues (VAN DER GOTEN et al. 1995)
(Fig. 24.10).
a the left sublingual gland
S. J. King
24.6.S
Congenital Disorders
Congenital absence of the salivary glands is rare;
it may be seen together with absence of lacrimal
puncta. The inheritance appears to be autosomal
dominant with variable expressivity (FERREIRA et
al. 2000). Children present with symptoms of dry
mouth, dental caries and poor oral hygiene.
One or more of the salivary glands may be absent.
Agenesis of the parotid gland and masseter muscle
is associated with cleft palate and microstomia in
the syndrome mandibulo-facial dysostosis. This is an
autosomal dominant condition with variable expres-
sivity (CANNISTRA et al. 1998). The syndrome com-
prises hypoplasia of the malar bones, mandibular
condyles and temporo-mandibular joints, coloboma
or hypoplasia of the lower lids with antimongoloid
slant of the palpebral fissures. Facial involvement is
symmetrical, and external ear and auricular abnor-
malities are associated.
24.6.6
Iatrogenic Disease
Rarely, the salivary glands or ducts may be dam-
aged following sialography. A misplaced catheter may
Fig.24.lOa, b. Plunging ranula. T2-weighted MRI shows a
cystic structure inferior to the angle of the left mandible. a
Transverse image shows a homogeneous plunging ranula. b
Coronal image shows a small extension of the ranula toward
Salivary Glands
create a false passage and the duct or gland may
rupture if excessive contrast medium is introduced
or the injection pressure is too high.
24.6.7
Mimics
Hypertrophy of the masseter muscle is a benign con-
dition that may occur in late adolescence or early
adulthood. Clinically there is facial swelling that can
be unilateral, bilateral or bilateral and asymmetrical
(FYFE et al. 1999). It is thought to be due to a brux-
ism habit which induces hypertrophy of the muscle.
Long-standing cases usually show hyperostosis at the
bony attachments of the masseter muscle, and other
muscles of mastication may also be involved. Occa-
sionally asymmetrical, unilateral hypertrophy of the
masseter muscle mimics parotitis (LASH 1963).
References
Ahuja AT (l999) How I image the salivary glands. CME J
Radioll:76-81
Ahuja AT, Metreweli C (1996) Ultrasound features of Sjogren's
syndrome. Australas RadioI40:10-14
Bianchi A, Cudmore RE (l978) Salivary gland tumors in chil-
dren. J Pediatr Surg 13:519-521
Cannistra C, Barbet JP, Houette A et al (l998) Mandibulo-facial
dysostosis: a comparison study of a neonate with mandib-
ulo-facial dysostosis and a normal neonate. J Craniomaxil-
lofac Surg 26:92-97
Carty H (l994) The salivary glands and tongue. In: Carty H,
Brunelle F, Ringertz HG, Shaw D, Kendall B (eds) Imaging
children. Churchill Livingstone, Edinburgh, p303-307
Chaudhuri R, Bingham JB, Crossman JE, et al (l992) Magnetic
resonance imaging of the parotid gland using the STIR
sequence. Clin OtolaryngoI17:211-217
Chhieng DC, Cangiarella JF, Cohen JM (2000) Fine needle aspi-
ration cytology of Iymphoproliferative lesions involving
the major salivary glands. Am J Clin Pathol 113:563-571
Chitre VV, Premchandra DJ (l997) Recurrent parotitis. Arch
Dis Child 77:359-363
Choi DS, Na DG, Byun H, et al (2000) Salivary gland turnours:
evaluation with two-phase helical CT. Radiology 214:231-236
343
Ellis GL, Auclair PL, Gnepp DR (l991) Surgical pathology of
the salivary glands. Saunders, Philadelphia
Ferreira AP, Gomez RS, Castro WH, et al (2000). Congenital
absence of lacrimal puncta and salivary glands: report of a
Brazilian family and review. Am J Med Genet 94:32-34
Fyfe EC, Kabala J, Guest PG (l999) Magnetic resonance imag-
ing in the diagnosis of asymmetrical bilateral masseteric
hypertrophy. Dentomaxillofacial Radiol 28:52-54
Garcia q, Flores PA, Arce JD, et al (l998) Ultrasonography
in the study of salivary gland lesions in children. Pediatr
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Goddart D, Francois A, Ninare J, et al (l990) Parotid gland
abnormality found in children seropositive for the human
immunodeficiency virus (HIV). Pediatr Radiol 20:355-357
Gritzmann N (l989) Sonography of the salivary glands. Am J
RoentgenoI153:161-166
Herbert G, Quimet-Oliva D, Ladouceur J (l975) Vascular
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Ilgit ET, Cizmeli MO, Icsik S, et al (1992) Digital subtraction
sialography: technique advantages and results in 107 cases.
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Kaban LB, Mulliken JB, Murray JE (l978) Sialadenitis in child-
hood. Am J Surg 135:570-576
Klutmann S, Bohuslavizki KH, Kroger S, et al (1999) Quantitative
salivary gland scintigraphy. J Nucl Med Technol 27:20-26
Krolls SO, Trodahl IN, Boyers RC (l972) Salivary gland lesions
in children. Cancer 30:459-469
Lash H (l963) Benign masseteric hypertrophy. Surg Clin N
Amer 43:1357
Nozaki H, Harasawa A, Hara H, et al (l994) Ultrasonographic
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Robson CD, Hazra R, Barnes PD, et al (l999) Nontuberculous
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Rubaltelli L, Sponga T, Candiani F, et al (1987) Infantile recurrent
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Tavill MA, Wetmore RF, Poje CP, et al (l995) Imaging case
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Van der Goten A, Hermans R, Smet MH, et al (l995) Subman-
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25 Ultrasonography of the Larynx
C. GAREL

CONTENTS the unossified laryngeal cartilages in children. The

normal and the pathological elements of the larynx
25.1 Introduction 345 are seen only indirectly. In children, the laryngeal com-
25.2 Ultrasonographic Anatomy 345 ponents are very small, there is little paraglottic fat,
25.2.1 Cartilage 345
25.2.2 Muscles 346 and the cartilages are still unossified. This means that
25.2.3 Airway 347 the contrast on computed tomography (CT) and mag-
25.3 Pathological Findings 347 netic resonance imaging (MRI) is poor; these tech-
25.3.1 Supraglottic Pathology 347 niques, which require sedation in infants and small
25.3.2 Glottic Pathology 348 children, are not well adapted to the pediatric larynx
25.3.2.1 Vocal Cord Paralysis 348
25.3.2.2 Laryngeal Web 348 (HUDGINS et al. 1997). Laryngeal ultrasonography
25.3.2.3 Papillomas and Other Causes of (US), on the other hand, is an easily reproducible and
Thickening of the Vocal Cords 348 noninvasive technique that can accurately explore the
25.3.3 Subglottic Pathology 348 larynx in children. It was observed many years ago
25.3.3.1 Subglottic Hemangioma 348 that US could image the larynx (NoYEK 1977), but pub-
25.3.3.2 Congenital Subglottic Stenosis 349
25.3.3.3 Posterior Laryngeal Cleft 349 lished reports of the use of US for examination of the
25.3.3.4 Subglottic Laryngitis 349 larynx in children are limited (RAGHAVENDRA et al.
25.3.3.5 Acquired Stenosis 349 1987; GAREL et al. 1990, 1991; STRAUSS 2000).
25.3.4 Diffuse Laryngeal Pathology 350
25.4 Conclusion 350
References 350

25.1
Introduction
Nowadays, most diagnoses relating to laryngeal pathol-
ogy in children can be assessed by clinical examination
and endoscopy. However, it must be kept in mind that
endoscopy remains an invasive way of exploring the
larynx. It cannot visualize the larynx in physiological
conditions. Moreover, it can considerablyworsen the clin-
ical condition of infants whose condition is unstable.
For these reasons, accurately imaging the larynx
in infants and children remains a real challenge. The
direct radiographic magnification described by D.
LALLEMAND and J. SAUVEGRAIN (LALLEMAND et al.
1972) is still used, but this technique exposes the child
to ionizing radiation, does not provide a good func-
tional evaluation of the larynx, and cannot visualize
C. GAREL
Consultant Radiologist, Hospital Robert Debre, 48 Bd Serurier,
75935 Paris Cedex 19, France
25.2
Ultrasonographic Anatomy
The larynx is traditionally divided into three levels:
the supraglottic, the glottic, and the subglottic levels.
Examination by ultrasound is mainly based on
transverse slices performed at these different levels
(GAREL et al. 1990). Sagittal and coronal views are
generally not contributory. The larynx is essentially
composed of cartilages and muscles.
25.2.1
Cartilage
The normal thyroid cartilage is an inverted V-shaped
structure; its shape and appearance change according
to the child's age. In neonates and infants, the thyroid
cartilage appears as a thin hypoechoic structure with
a smooth anterior angle (Fig. 25.1). In the older child
(Fig. 25.2), this angle becomes sharper and the cartilage
thickens with a central hypoechogenicity and a hyper-
echoic margin that should correspond to the cortex.
346
Fig. 25.1. Transverse study performed at the glottic level in a
neonate. The thyroid cartilage (arrow) is thin and hypoechoic
with a smooth anterior angle
Fig. 25.2. Transverse study performed at the glottic level in a
7-year-old girl. The thyroid cartilage (right-hand thin arrow)
has a central hypoechogenicity and a hyperechoic margin. The
anterior angle is sharp. The vocal cords (stars) are hypoechoic,
their base is inserted on the hyperechoic vocal process of the
arytenoids (left-hand thin arrow). The posterior part of the
arytenoids is hypoechoic (thick arrow). The anterior superfi-
cal muscles of the neck are readily visible (curved arrow). The
glottic air is sagittal and hyperechoic
The cricoid cartilage appears as a round hypo-
echoic structure adjacent to the upper part of the
lobes of the thyroid gland. The posterior aspect of the
cricoid ring is hidden by the acoustic shadow of the
subglottic air (Fig. 25.3). Its sides are easily visual-
ized on both sagittal and transverse planes, and small
echogenic foci that could correspond to calcifications
may be found even in children (STRAUSS 2000).
The arytenoids are set behind the vocal cords.
They are composed of two parts: the posterior part, of
hyaline cartilage, appears hypoechoic and the ante-
C. Garel
Fig. 25.3. Transverse study performed at the subglottic level in
a 3-year-old boy. The cricoid cartilage is a round hyperechoic
structure. The anterior and the lateral aspects (arrows) are well
depicted. The posterior part of the cricoid ring is hidden by
the acoustic shadow of the subglottic air (star)
rior part, of elastic cartilage - the vocal process - is
hyperechoic (Fig. 25.2). The arytenoids are normally
symmetrical in position and their abduction-adduc-
tion movements are well evaluated with US.
The epiglottis is made of elastic cartilage and is
hyperechoic. Only its base is visible; its angle is much
sharper in the neonate than in the older child.
25.2.2
Muscles
The anterior superficial muscles of the neck (sterno-
hyoid, thyrohyoid, and omohyoid muscles) are well
depicted (Fig. 25.2).
The vocal cords can be seen as two triangular
hypoechoic structures (Fig. 25.2). Their apex is
located behind the re-entrant angle of the thyroid
lamina and their base is inserted on the hyperechoic
vocal process of the arytenoids. Their echogenicity
probably reflects their muscular component.
The abduction-adduction movements of the vocal
cords can be assessed during deep inspiration. The
vibration movements are observed during phonation.
The false vocal cords (or ventricular bands) are
located just above the true vocal cords (the laryngeal
ventricles are not visible)and are hyperechoic,probably
because they consist mostly of fatty tissue and mucous
glands (RAGHAVENDRA et al. 1987) (Fig. 25.4).
The interarytenoid and the laryngopharyngeus
muscles are hypoechoic; their medial portion is
hidden by the acoustic shadow of the air.
Ultrasonography of the Larynx
Fig. 25.4. Transverse study performed at the supraglottic level
in a 3 year-old boy. The ventricular bands (false vocal cords)
are hyperechoic (long arrow). The base of the epiglottis is
hyperechoic (short arrow)
25.2.3
Airway
The air movement is visible at the different levels of
the larynx and in the recessus piriformis. The amount
of hyperechogenicity is proportional to the volume
of the air flux. The air creates an acoustic shadow
that makes it impossible to see the posterior and
medial structures. At the glottic level, the air is sagit-
tally oriented and is seen anteriorly just behind the
thyroid cartilage (Fig. 25.2).
25.3
Pathological Findings
The clinical symptomatology of laryngeal patholo-
gies includes mainly stridor, obstructive dyspnea,
dysphonia, cough, and hoarseness. These signs are
usually not specific, and it is hard to suggest which
level is affected by clinical examination alone. When
performing laryngeal US, each level must be carefully
examined. Some pathologies preferentially involve a
particular one of the three levels of the larynx, while
others may be encountered at any level.
25.3.1
Supraglottic Pathology
Laryngomalacia is the most common cause of inspi-
ratory stridor in neonates and young infants. Typi-
cal radiographic findings have been described (JOHN
347
and SWISCHUK 1992), but the diagnosis must be
assessed by endoscopy. There is no specific sign of
laryngomalacia on US.
Congenital cysts can occur at the supraglottic
level; they are usually symptomatic in neonates or
small infants. They are located in the vallecula or the
aryepiglottic folds (NARCY et al.I984). In US, the cyst
is anechoic and sharply outlined (Fig. 25.5). If there
is infection, it may be more hyperechoic.
A hemangioma in a supraglottic location is excep-
tional and one must always look for an associated
extralaryngeal component (NARCY et al. 1979). Supra-
glottic hemangiomas have the same US features as
subglottic hemangiomas.
Other neoplasms can occur in the supraglottic
region. They are very rare and do not have specific
US features; they include fibromas, paragangliomas,
and neurofibromas. Laryngeal involvement of neu-
rofibromatosis is usually supraglottic (STINES et al.
1987).
US in acute epiglottitis is contraindicated because
of the risk of sudden complete obstruction of the
upper airway.
Fig. 25.5. Congenital cyst. Transverse study performed at the
supraglottic level in a 3-month-old boy presenting with dys-
pnea and stridor. The cyst (star) is anechoic and located in
the left aryepiglottic fold. The left ventricular band (arrow) is
slightly displaced to the right
25.3.2
Glottic Pathology
25.3.2.1
Vocal Cord Paralysis
Vocal cord paralysis may be unilateral or bilateral,
congenital or acquired, e.g., after surgery. Bilateral
348
abductor paralysis results in an inability to open the
glottis. Adductor paralysis results in an inability to
close the glottis. The diagnosis of vocal cord paralysis
is made by endoscopy, but it is not easy, especially in
young infants, and it may be difficult at endoscopy to
distinguish bilateral paralysis from spasm. US allows
examination of the vocal cords in physiological con-
ditions. The immobility of the vocal cords is well
demonstrated (GAREL et al. 1991; FRIEDMAN 1997).
In unilateral paralysis, the injured vocal cord may
be passively attracted towards the contralateral side
during inspiration. The echo of the glottic air is not
sagittal but oblique (Fig. 25.6).
Fig. 25.6. Transverse study performed at the glottic level. Left
vocal paralysis in a I-year-old girl. The left vocal cord (star) is
passively attracted towards the right side during inspiration.
The glottic air (arrow) is oblique and no longer sagittal
25.3.2.2
Laryngeal Web
Dysphonia is the main clinical symptom. The web is
usually located between the vocal cords, in the ante-
rior third. For thin glottic webs, diagnosis and treat-
ment (section of the web) are by endoscopy. Thick
webs may extend to the subglottis, causing a sub-
glottic stenosis requiring an additional laryngoplasty
(NARCY et al. 1984).
The web is easily depicted with US and appears
hypoechoic (Fig. 25.7). A subglottic extension may be
difficult to assess by endoscopy but is easily detect-
able with US.
25.3.2.3
Papillomas and Other Causes of
Thickening of the Vocal Cords
The diagnosis of any of these entities is easily estab-
lished by endoscopy and does not require any further
examination.
C. Garel
Fig. 25.7. Transverse study performed at the glottic level in a
I-month-old boy who had suffered from aphonia since birth.
The anterior third of the vocal cords is fused by the web, which
appears hypoechoic (arrow). This web did not extend to the
subglottis
25.3.3
Subglottic Pathology
The subglottic area is less easily examined with
endoscopy than the other levels of the larynx. More-
over the clinical condition of unstable infants may be
worsened by endoscopy of the subglottis.
25.3.3.1
Subglottic Hemangioma
Hemangioma is the most common subglottic mass
observed in children. It produces stridor in the first
few weeks of life (almost always before 6 months but
not immediately after birth). Fifty percent of patients
also have cutaneous hemangiomas (NARCY et al. 1984;
JOHN and SWISCHUK 1992). The diagnosis is usually
made by endoscopy, but hemangioma may be hard to
see beneath a normal mucosa and its volume may vary
very rapidly, so that it can almost disappear during
endoscopy (NARCY et al. 1984). US is an easy and
reproducible way of diagnosing subglottic hemangio-
mas. Because of airway compromise, the infants gen-
erally present with dyspnea, making it difficult to use
color Doppler. In young infants subglottic hemangio-
mas appear as round, hypoechoic, usually left-sided
masses (Fig. 25.8). In older children hemangiomas
undergo a spontaneous regression with a fibrofatty
stroma appearing within the mass: therefore the hem-
angiomas become hyperechoic.
 Ultrasonography of the Larynx
a
b
Fig. 25.8. a Subglottic hemangioma in a 4-month-old girl. The
hemangioma is hypoechoic, left-sided (arrow). b Three years
later, the girl still suffers from recurrent laryngitis. Color Dop-
pler imaging shows that hypervascularization persists within
the hemangioma (arrow)
25.3.3.2
Congenital Subglottic Stenosis
A severe laryngeal web, an abnormality of the cricoid
shape (elliptical cricoid), cricoid hypertrophy (circu-
lar or limited to the anterior part) (Fig. 25.9), or the
presence of hypertrophied heterotopic subglottic sali-
vary glands may all be a cause of congenital subglot-
tic stenosis. These different entities are recognizable
with US. US can depict the shape and the thickness of
the cricoid ring. In some instances, we have observed
hypertrophied salivary glands appearing as small
cystic lesions within the subglottic mucosa.
25.3.3.3
Posterior Laryngeal Cleft
A cleft in the posterior cricoid lamina lies in the
midline. It is not visible with US, because it is hidden
349
Fig. 25.9. A 7-day-old neonate presenting with respiratory dis-
tress. Subglottic stenosis US demonstrates a hypertrophy of
the anterior aspect of the cricoid (long arrow). The shape
of the cricoid is abnormal: it is elliptical instead of circular.
The echo of the subglottic air is displaced posteriorly (short
arrow)
by the acoustic shadow of the subglottic air. MRI may
be useful in cases of "occult" submucous laryngeal
cleft (GAREL et al. 1992).
25.3.3.4
Subglottic Laryngitis
The diagnosis of this very frequent disease is based
on clinical examination and generally requires no
further investigation. If it is atypical or recurrent, US
may be useful in that it can depict an abnormality of
the cricoid shape (a moderate subglottic stenosis) or
a subglottic hemangioma within the mucosal edema
(and therefore not visible by endoscopy).
25.3.3.5
Acquired Stenosis
Subglottic narrowing can also be related to an acquired
stenosis secondary to intubation. However, granulomas
are more easily depicted by endoscopy than by US.
25.3.4
Diffuse Laryngeal Pathology
Some pathologies are not confined to a single level
of the larynx.
Cystic lymphangiomas may be observed anywhere
in the larynx and appear as cystic septated lesions.
Occasionally, only one cyst is present.
 350
Amyloidosis and various neoplasms including
rhabdomyomas and hemangiopericytomas may be
present. US findings are not specific, but US can
accurately localize the tumor within the larynx
(Fig. 25.10).
Laryngeal trauma is rare. The evaluation oflaryn-
geal injuries is difficult with endoscopy because of
hematoma (GUSSACK et al. 1986). US is helpful in
establishing displacement of the cartilages.
a of MR in the diagnosis of "occult" posterior laryngeal cleft.
b gol Suppl 3:95-117
Fig. 25.10a, b. Laryngeal amyloidosis in an 11-year-old girl
presenting with dysphonia. a Transverse study at the level of
the ventricular bands. The amyloidosis appears as a rather
hypoechoic right-sided mass (star) that displaces the echo of
the supraglottic air towards the left side (arrow). b Glottic
level. The right vocal cord is no longer visible. The mass (star)
is located in the right paraglottic space, displacing the glottic
air towards the left (arrow). At surgery, the right vocal cord
was found to be completely destroyed
C. Garel
25.4
Conclusion
US is a very attractive way of imaging the larynx
because it is noninvasive and allows real-time exam-
ination of the larynx under physiological condi-
tions. Various abnormalities (including functional
diseases) can be accurately diagnosed. It is a valuable
complement to endoscopy, demonstrates the pedi-
atric larynx better than plain radiography, and has
advantages over CT or MRI.
References
Friedman EM (1997) Role of ultrasound in the assessment
of vocal cord function in infants and children. Ann Otol
Rhinol LaryngoI106:199-209
Garel C, Legrand I, Elmaleh M, et al (1990) Laryngeal ultraso-
nography in infants and children: anatomical correlation
with fetal preparations. Pediatric Radiol 20:241-244
Garel C, Hassan M, Legrand I, et al (199I) Laryngeal ultra-
sonography in infants and children: pathological findings.
Pediatric Radiol21 :164·-167
Garel C, Hassan M, Hertz-Pannier, et al (1992) Contribution
Int J Pediatr OtorhinolaryngoI24:177-181
Gussack GS, Jurkovich GJ, Luterman A (1986) Laryngotracheal
trauma: a protocol approach to a rare injury. Laryngoscope
96:660-665
Hudgins PA, Siegel J, Jacobs I, et al (1997) The normal pedi-
atric larynx on CT and MR. AJNR Am J Neuroradiol
18:239-245
John SD, Swischuk LE (1992) Stridor and upper airway obstruc-
tion in infants and children. Radiographies 12:625-643
Lallemand D, Sauvegrain J, Mareschal JL (1973) Laryngo-tra-
cheal lesions in infants and children. Detection and fol-
lOW-Up studies using direct radiographic signification. Ann
Radiol 16:293-304
Noyek AM, Holgate RC, Wortzman G, et al (1977) Sophisti-
cated radiology in otolaryngology II. Diagnostic imaging:
non-roentgenographic (non-x ray) modalities. J Otolaryn-
Narcy P, Andrieu-Guitrancourt J, Beauvillain de Montreuil C,
et al (1979) Le larynx de I'enfant. Rapport de la Societe
Fran<;aise d'ORL et de Pathologie Cervico-Faciale. Arnette,
Paris, pp 183-235
Narcy P, Bobin P, Contencin P, et al (1984) Anomalies laryngees
du nouveau-ne. A propos de 687 observations. Ann Otolar-
yngol Chir Cervicofac 101:363-373
Raghavendra BN, Horii SC, Reede DL, et al (1987) Sonographic
anatomy of the larynx, with particular reference to the
vocal cords. J Ultrasound Med 6:225-230
Stines J,Rodde A, Carolus JM,et al (1987) CT findings oflaryn-
geal involvement in von Recklinghausen disease. J Comput
Assist Tomogr 11:141-143
Strauss S (2000) Sonographic appearance of cricoid cartilage
calcification in healthy children. AJR Am J Roentgenol
174:223-228
Subject Index

A Bezold abscess 57,61

abscess, intracranial 2 black eyebrow sign 126
accessory ostia 137 blow-out fracture 125
achalasia 318 blue rubber bleb nevus syndrome 276
achrondroplasia 44 Boerhaave's syndrome 317
acrocephalosyndactyly, Apert's III bony hypoplasia, radiotherapy 265
acrofacial dysostosis with post axial defects brain
(Miller Syndrome) 38 - abnormalities in synostosis syndromes 117-118
adenoid / adnoidal - maldevelopment, association with facial clefts 105-108
- cystic carcinoma 81 branchio-oto-renal syndrome 12,16,39,48
- facies 200 bronchus / bronchial
- hypertrophy 138 - cleft
adenotonsillectomy 202-203 - - anomaly 183
adrenoleucodystrophy 49 - - cyst 183,253
Agger nasi air cells 136 - malformations 219
airway - squamous carcinoma 210
- abnormalities, imaging features 216-227 bronchitis,laryngo-tracheo-bronchitis 223
- obstruction 213-227 bronchogenic cyst 195,219,305
allergic rhinitis 138 bronchography 215,216
Alport syndrome 46 bronchoscopy
Alstrom syndrome 42 - foreign body 238
amniotic band syndrome 103 - virtual 212
anaplastic large-cell lymphoma 259-260 Burkitt's lymphoma 160
anesthesia 99
- foreign bodies, anaesthetic aspects 239-240 C
aneurysmal bone cyst 80 Caldwell's view 122
angiofibroma 155 callosal lipoma 106
antral sign 157 Camurati-Engelmann syndrome 44
aorta / aortic candida albicans 311
- arch, aortic capillary malformation (port wine stain) 275-276
- - anomaly 217,220,306 carcinoma, nasopharyngeal 163-167
- - - aberrant suclavian artery 217 carotid artery aneurysm 195
- - - double 217 Carpenter's syndrome 117
- cervical 196,219 catscratch fever 249,341
- circumflex 218 caustic ingestion 310
Apert's central midline incisor syndrome 110
- acrocephalosyndactyly III cerebellopontine angle 85
- syndrome 45,116 cerebral
arachnoid cyst 86 - cavernous malformation 276
arteriovenous - cerebral/cerebellar abscess 57
- fistula 283 - palsy 317
- malformation 283 cerebritis 145
artery, innominate artery compression 217, 219 cerebrospinal fluid (see CSP) 11,13,94,99,127,147
aryepiglottic folds 347 cervical
aspartylglucosaminuria 49 - adenitis
aspiration 298 - - infectious 248,253
atelectatic infundibulum 136 - - non-infectious 247
atlantoaxial joint, subluxation 254 - aorta 219
- cleft 194
B - spine injury 242
Bannayan-Riley-Ruvalcaba syndrome 286 - thymus 187
barium swallow 4 CHARGE association 12,40,109
352 Subject Index

chemotherapy 264 craniosynostosis 45, 116-118

- mononeuropathy 264 - brain abnormalities in synostosis syndromes 117-118
- nerve palsy 264 - coronal 116
- - facial 264 - metopic 116
- - phrenic 264 - sagittal 116
- - recurrent laryngeal 264 crista galli 136
chloroma (granulocytic sarcoma) 88 Crohn's disease 312
choanal stenosis I atresia 3,108 croup
cholesteatoma 69,82 - laryngo-tracheo-bronchitis 208,254
- acquired 69 - pseudomembranous 223
- anterior and inferior 71 Crouzon's
- "attic" 70 - craniofacial dysostosis III
- congenital 75 - syndrome 45,111,116
- facial nerve involvement 73 CSF (cerebrospinal fluid)
- hearing loss 74 - fistula 11, 13, 94
- - inner ear fistula 73 -leaks 99,127,148
- - ossicular damage 73,76 CT sinus protocols 140-142
- - pathophysiology 70 cyclopia 106
- - petrous apex extension 74 cystic fibrosis 142-143
- - posteriosuperior I sinus 71 cytomegalievirus 311
cholesterol cyst 67
chondroblastoma 80, 83 D
chordoma 168-169 dacryocystocele 113
choroid plexus papilloma 87 Dandy-Walker syndrome 270
circumflex aorta 218 De Meyer system 104
CISS sequence 24,25 dental abnormalities, radiotherapy 265
cisternography 94 dentoalveolar injuries 123-124
cleft palate 38-45,292 dermatoid cyst 187
- Kniest dysplasia 44 dermatomyositis 318
- laryngeal cleft 208, 210, 349 dermoid
- Miller syndrome 38 - cysts 159
- Nager syndrome 38 - Goldenhar Syndrome 38
- oto-palato-digital syndrome 45 - cerebellopontine angle 86
- spondyloepiphyseal dysplasia congenita 44 - nasal III
- Stickler syndrome 44 developmental anatomy 119
cloverleaf deformity ("Kleeblattschadel") III Di George syndrome 18,38,41
cochlea I cochlear diphtheria 222,223
- congenital deformity 12 diverticulosis of oesophagus 320
- - branchio-oto-renal syndrome 12,39 diverticulum of Kommerell 217
- - congenital deformity and cochlear implant 26 DOOR syndrome 51
- - - Norrie syndrome 42 double aortic arch 217
- - - Stickler syndrome 44 Down syndrome 52,200,281
- implant facial nerve 23 ductus sling 219
- nerve assessment before cochlear implant 23 duodenal atrasia 301
cochleostomy 23 dural venous sinus thrombosis 57,63,64
- and labyrinthitis obliterans 28
- and MRI 29 E
coloboma ectodermal inclusion cyst (see also dermoid) 38,86
- CHARGE association 40 ectrodactyly 45
- Miller Syndrome 38 Ehlers-Danlos syndrome 196
- Treacher Collins Syndrome 38 electron beam CT (ultrafast CT) 293
concha bullosa 136 embolisation 158, 169
condylar fracture 124 embryology and facial development 100-111
congenital anomaly 12 emphysema, orbital 147
- Di George syndrome 41 empyema, subdural 142,145
- Kallmann syndrome 50 encephalocele, nasal 111-112
- oculo-auriculo-vertebral spectrum 38 - nasoethmoidal 112
- Townes-Brock Syndrome 39 - transethmoidal 112
- Wilderwanck syndrome 46 - sphenothmoidal 112
craniodiaphyseal dysplasia 44 endodermal sinus tumour (see yolk sac tumour) 81
craniofacial microsomia 15 endolymphatic sac 12-13
craniometaphyseal dysplasia 44 - Pendred's syndrome 2, 13
craniopharyngioma 87,88,170 - tumour 84
Subject Index 353

endoscopic sinus surgery 3,133,137-149 -larynx 236

enteric cyst 305 - oesophagus 235,313
eosinophilic - postnasal space 236
- gastroenteritis 312 - radioopaque 234
- granuloma 225 - tonsil 236
epidermal necrolysis, toxic 313 - trachea 235,237
epidermoid 75,86 fossa
- cyst 187 - infratemporal 153
epidermolysis bullosa 312 - of Rosenmuller 153
epiglottis 208, 254 fractures, facial 91,123-131
- acute 208, 223 - blow-out 125
- aryepiglottic folds 347 - condylar 124
- ultrasound 347 - mandibular 124-125
epistaxis 155 - midfacial 128-130
Epstein-Barr-virus (EBV) 163 - - maxillary (Le Fort type) 129
esthesioneuroblastoma 170 - nasal 124
ethmoidal bulla 135 - nasoethmoidal complex 130
Ewing sarcoma 81,85 - orbital 125-127
- Ewing's sarcoma / primitive neuroectodermal tumour 263 - parasymphyseal 124
exostoses 79 - supraorbital 127-128
- "surfer's ear" 80 - symphyseal 124
external auditory meatus/external ear branchio-oto-renal - zygomatic complex 125
syndrome 39 frontal prominence 100
- CHARGE association 40 frontometaphyseal dysplasia 44
- Crouzon syndrome 45 functional MRI 26
- congenital anomaly 16
- fracture 93 G
- Nager Syndrome 38 galactosialidosis 49
- oculo-auriculo-vertebral spectrum 38 gangliosidoses 49
- oto-palato-digital syndrome 45 Gardner's syndrome 262
- Townes-Brock Syndrome 39 gastro-oesophageal reflux 208,216
- Treacher Collins Syndrome 37 germ cell tumour 81,85,264
- Wilderwanck syndrome 46 glabella 100
extradural glioma, nasal III
- abscess 145 globular process 100
- collection 64,66 glomangioma, familial multiple 276
eyebrow, black eyebrow sign 126 glomus tumour (paraganglioma) 82
glue ear (see chronic secretory otitis media) 56-47,66-68,74
F goitre 331
face, congenital malformations 99-118 Goldenhar Syndrome (oculo-auriculo-vertebral spectrum)
- sedation and anesthesia 99 38,101-102
facial Goodman-Moghadam syndrome 51
- clefting 101,104 Gradenigo syndrome 63
- - association of facial clefts and brain maldevelopment graft versus host disease 312
105-108 granulation tissue 66
- embryology and facial development 100-111 granulocytic sarcoma 88
- injury 119-131 granulomatous disease, chronic 319
- - fractures 123-131 Grisel's syndrome 254
- - non-accidental 120 Grommet tubes 56,57,67
- nerve
- - cochlear implant 23 H
- - congenital deafness 15 haemangioendothelioma 80
- - injury in temporal bone fracture 94 haemangioma 80,83,158-159,195,220,267-268,270
facio-audio-symphalangism 46 -laryngeal 347
familial ossicular malformations 36 - oesophagus 313
feeding disorder 289 - salivary gland 337
fibromatosis 226 - subglottic 209,211,348
fibrosarcoma 81,88 haemangiopericytoma 273
fibrosis, cystic 142-143 Haller's cells 135,136
foreign body 138, 222 hamartoma, nasal 113-116
- anaesthetic aspects 239-240 Hand-Schuller-Christian disease 225
- bronchoscopy 238 Hashimoto's thyroiditis (chronic lymphocytic thyroiditis)
- bronchus 238 252,286
354 Subject Index

Hasner, valve of III K

head injury 91 Kabuki syndrome 36
hearing loss 264 Kallmann syndrome 50
hemangioendothelioma, Kaposiform 269,273 Kaposiform hemangioendothelioma 269,273
hemangioma (see haemangioma) Kasabach-Meritt
hemangiopericytoma (see haemangiopericytoma) 273 - phenomenon 269
hemifacial microsomia (oculo-auriculo-vertebral spectrum) 38 - syndrome 220
hemorrhagic telangiectasia, hereditary 276,286 Kawasaki's syndrome 196
hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber Kleeblattschiidel" (cloverleaf deformity) III
syndrome) 276,286 Klippel-Feil syndrome 36
hiatus semilunaris 135 - and Michel aplasia 46
Hodgkin's lymphoma 260 Klippel- Trenauay syndrome 286
holoprosencephaly 105 Klippel- Trenauay- Weber syndrome 220
Horner's syndrome 165 Kniest dysplasia 44
H-type fistula 298,302 Kommerell, diverticulum of 217
human papilloma virus 210 kyphoscoliosis 226
Hunter syndrome (MPS II) 49
hygroma, cystic (see also lymphatic malformation) 177,253, L
280 labyrinthine fistula 67,73
hyoid bone labyrinthitis
- and branchial fistula, sinus and tract 18 - acute 63
- fracture 242 - ossificans / obliterans 28
hypertelorism 106 lacrimo-auriculo-dento-digital (LADD) syndrome 40
hypoplasia middle turbinate 136 Langerhans' cell histiocytosis 81, 84, 225
hypothyroidism laryngeal
- athyreosis 328-329 - cleft 208, 210, 349
- congenital 328 - penetration 291
- dyshomogenesis 329 - webs 211,348-349
laryngitis 349
I laryngocele 193
iduronate-2-sulphate deficiency 49 laryngomalacia 207, 210, 347
infantile myofibromatosis 81 laryngo-tracheo-bronchitis (see also croup) 208,223,254
infection 222-224 laryngo- tracheo-oesophageal cleft 304
inflammatory larynx
- oedema 144 - amyloid 345
- recurrent inflammatory disease 146 - anatomy 350
infraorbital meatal line (Reid's) baseline 122 - foreign body 138
infratemporal fossa 153 - heterotopic salivary gland 349
infundibulum 135-136 - lymphangioma 350
- atelectatic 136 - neoplasm / tumour 347,350
injury - trauma 350
- cervical spine 242 - ultrasound 345-346
- facial 119-131 Le Fort type (maxillary fracture) 129
- - dentoalveolar injuries 123-124 leiomyoma 313
- - non-accidental 120 LEOPARD syndrome 51
- penetrations neck injury 241 lethal multiple pterygium syndrome 281
- tracheal 242 Letterer-Siwe disease 225
innominate artery compression 217, 219 leukaemia 85
internal auditory meatus / inner ear 12 limb defects
- CHARGE association 40 - Apert syndrome 45
intra / extracochlear implant 22 - CHARGE association 40
intracranial hypertension 64 - Miller sydrome 38
inverting papilloma 158 - Nager syndrome 38
- lacrimo-auriculo-dento-digital syndrome 40
J - Townes-Brock Syndrome 39
Jackson- Weiss syndrome 117 lipidoses 49
Jervell-Lange-Nielsen syndrome 52 lipoma 86
Johanson-Blizzard syndrome 38,50 - nasal 113
jugular lung herniation 193
- bulb, high position 15 lymphadenopathy 249
- vein varix 195 lymphangioma 80,159,219,221
-larynx 350
- salivary gland 338
Subject Index 355

lymphatic malformation 177,253,280 mucocele 146-147

- cystic hygroma 177,253 mucopolysaccharidoses (MPS) 49
- embryology 177 mucopyosinusitis 143
lymphocytic thyroiditis, chronic (Hashimoto's thyroiditis) multiple sulphatase deficiency 49
252,286 myofibromatosis, infantile 81
lymphoma 85,167-168,258
- anaplastic large-cell lymphoma 259-260
- Burkitt's 160 N
- Hodgkin's 260 Nager syndrome 38
lysosomal storage disease 49 nasal
- agenesis 108
M - dermoid III
MacIntyre 1 - encephalocele III
macroglossia 200 - fractures 124
Mallory- Weiss syndrome 316 - hamartoma 113-116
mandibular fractures 124-125 - glioma III
mandibulofacial dysostosis 15, III -lipoma 113
Marcus Gunn pupil 144 - nasal-antral window 137
Maroteaux-Lamy syndrome (MPS VI) 49 - prominence 100
Marfan's syndrome 196 - - lateral 100
massetter muscle, hypertrophy 343 - - median 100
masticator space 153 nasoethmoidal complex fracture 130
mastoiditis nasolacrimal duct obstruction III
- acute 57,59 nasopharyngeal tumours 153-170
- coalescent 57,60 - benign 155-160
Maffucci's syndrome 276 - carcinoma 163-167
maxillary - malignant 160-170
- Le Fort type fracture 129 neck
- sinus septa 136 - and airways, tumours 257-265
median tubercle and philtrum 100 - lateral neck X-ray 203,208
melanotic neuroectodermal tumour 84 - penetrations neck injury 241
meningioma 81 neural crest cells 100
meningitis 2,64,99 neuroblastoma 192-193,260-261
Michel aplasia 2, 11 - esthesioneuroblastoma 170
- in Wilderwanck syndrome 46 - MIBG scintigraphy (metaiodobenzylguanidine) 192-193
middle neuroectodermal tumour, Ewing's sarcoma / primitive neuro-
- ear cavity ectodermal tumour 263
- - abnormality 15 neuroenteric cyst 305
- - branchio-oto-renal syndrome 39 neurofibromatosis 225
- - CHARGE association 40 - peripheral 264
- - facio-audio-symphalangism syndrome 46 - type 1 81,87
- - mandibulofacial dysostosis 15 - type 2 47,86,87
- - oculo-auriculo-vertebral spectrum 38 neurofibrosarcoma 87, 264
- - oto-palato-digital syndrome 45 neurological syndromes with deafness 48
- - Treacher-Collins syndrome 38 Niemann-Pick disease 49
- - Wilderwanck syndrome 46 non-accidental injury 91
- meatus 135 non-Hodgkin's lymphoma 258-259
- turbinate Noonan's syndrome 281
- - hypoplasia 136 Norrie syndrome 42
- - paradoxical curvature 136
midface / midfacial o
- fractures 128-130 obstructive sleep apnoea (OSA) 199,213
- hypoplasia III - syndrome (OSAS) 200
Miller Syndrome 38 - - adenotonsillar enlargement 200
Mohr's orofacial digital syndrome 101 octreotide 170
Mondini deformity 2, 12 oculo-auriculo-vertebral-spectrum 38
- autosomal dominant Mondini dysplasia 36 - epibulbar dermoid 38
- CHARGE association 40 oesophageal
- Di George syndrome 41 - atresia 298
- Johanson-Blizzard syndrome 50 - bronchus 304
- Pendred syndrome 48 - diverticula 319
morning glory syndrome 106 - varices 320
Morquio syndrome (MPS IV) 49 - web 319
356 Subject Index

oesophagitis 302,309,313 paraganglioma 82

oesophagotrachea 304 parasymphyseal fracture 124
oesophagus parathyroid gland (sestamibi imaging) 196,332
- carcinoma 302,311,313,318 -cyst 196
- diverticulosis 320 - 99mTc-labeled sestamibi imaging 332
- duplication 305-306 Parkes- Weber syndrome 286
- fistula 298 parotid gland 335
- foreign body 235,313 - malignant lesion 81
- perforation 315,316 - Stensen's duct 335
- polyps (see there) 313 Passavant's ridge 293
- reflux 302 pectus excavatum 202,227
- stricture 302 Pendred syndrome 2,13,36.48,262
- tracheo-oesophageal fistula 208, 216, 208, 298 pendrin 48,49
- tuberculosis 311 perilymphatic gusher 13,25,26,36
- vascular impression 306-307 Perrault syndrome 50
OK-432 283 petrous apicitis 63
oligosaccharidoses 49 Pfeiffer's syndrome 45,116
Onodi's cells 136 philtrum, median 100
orbital Pierre Robin
- abscess 144,148 - anomalad 101
- cellulitis (postseptal cellulitis) 142,144-145 - sequence 200
- complications of sinusitis (see there) 144 pigmentary retinopathy (retinitis pigmentosa) 42,49
- emphysema 148 piriform
- fractures 125-127 - recess stenosis, anterior 110
- - supraorbital 127-128 - sinus fistula 185,251
- haematoma 148 pleomorphic adenoma 81,337
orthopantomogram 121 pneumatisation 136
OSA (see obstructive sleep apnoea) 199,213 - sinus 133-134
ossicles in external ear atresia 16 - sphenoid 136
- Crouzon syndrome 45 - uncinate process 136
osteoarthropathy, hypertrophic 165 pneumothorax 241
osteoblastoma 80,83 polypectomy, medical 142
osteogenesis imperfecta 16,45 polyps of oesophagus 313
osteogenic sarcoma 85,263 - angiofibroma 313
osteoma 83 - hamartoma 313
osteomyelitis, frontal 145,147 polysomnogram (sleep study) 202
osteopetrosis 16, 44 port wine stain (capillary malformation) 275-276
ostiomeatal complex (OMC) 135 Pott's puffy tumour 147
otitis media pouchogram 300
- achondroplasia 44 primitive otocyst 10, 11
- acute 55 Prussak's space 71
- - facial nerve palsy/dysfunction 66,67 pseudomembranous croup 223
- - haemophilus influenzae 56 pterygium syndrome, lethal multiple 281
- - intracranial complications 57,61,63 pulmonary
- - Streptococcus pneumoniae 56 - hypertension 203,213
- Stickler syndrome 44 -sling 217,219
- chronic secretory otitis media 56-47,66-68,74
- - automastoidectomy 74
- - complications 57,66 R
- - facial nerve dysfunction 67 radiotherapy 265
- - ossicular erosion/fixation 68 - bony hypoplasia 265
- - treatment 67 - dental abnormalities 265
oto-palato-digital syndrome 45 - thyroid disease 265
otosclerosis achondroplasia 44 ranula 342
- plunging 188-189
P von Recklinghausen's disease 264
papillary Refsum syndrome 42,49
- carcinoma (thyroglossal duct cyst) 182 Reid's baseline, infraorbital meatal line 122
- cystadenoma 337 Rendu-Osler-Weber syndrome (hereditary haemorrhagic tel-
papilloma virus, human 210 angiectasia) 276,286
papillomatosis, respiratory 210 respiratory papillomatosis 210
paradoxical curvature of the middle turbinate 136 retinitis pigmentosa (pigmentary retinopathy) 42,49
parafalcine collection 145 retropharyngeal abscess 4,223-224,241
Subject Index 357

rhabdoid tumour 196 sinonasal polyposis 140,142

rhabdomyosarcoma 81,83,160-163,261-262 sinus
rhinitis, allergic 138 - bony anatomy 134-135
rhinosinusitis 138,140-141 - cavernous sinus thrombosis 144-146
- chronic 138, 140 - clinical diagnosis of sinus disease 138
- - infuncibular 140 - CT sinus protocols 140-142
- - ostiomeatal unit 140 - development 133-134
- - sinonasal polyposis 140,142 - piriform sinus fistula 185,251
- - sphenoethmoid recess 140 - pneumatisation 133-134
- sporadic 141 - sagittal sinus thrombosis 145
Robinson syndrome 51 - septa, maxillary 136
RosenmillIer - surgery, functional endoscopic 3,133,137-149
- fossa of 153 sinusitis 133-149
- valve of III - chronic rhinosinusitis 138,140
- mucopyosinusitis 143
- orbital complications 144
S - - cavernous sinus thrombosis 144
Saethre-Chotzen syndrome 45 - - inflammatory oedema 144
salivary glands 83,335 - - orbital abscess 144
- agenesis 342 - - orbital cellulitis 143
- autoimmune disease 341 - - subperiosteal abscess 144
- choristoma 83 Sjogren's syndrome 337,341
- haemangioma 337 skull fracture 91
- heterotopia 349 sleep
- infection 340 - apnoea, obstructive 199,213
-lipoma 337 - - syndrome (OSAS) 200
- lymphangioma 338 - - - adenotonsillar enlargement 200
- scintigraphy 337 - study (polysomnogram) 202
- tumour 337-338 snoring 213
salt and pepper 157 speach sounds 292
Sanfilippo syndrome (MPS III) 49 spenoid pneumatisation 136
sarcoma sphenoethmoid recess 135,140
- botryoides 155 sphenoid aplasia 134
- chloroma (granulocytic sarcoma) 88 spondyloepiphyseal dysplasia congenita 44
- Ewing (see there) 81,85,263 squamous carcinoma of bronchus 210
- fibrosarcoma 81,88 steeple sign 214
- granulocytic 88 Stensen's duct, parotid gland 335
- neurofibrosarcoma 87,264 Stenvers view and cochlear implant 29
- osteogenic 85,263 sternomastoid muscle
- rhabdomyosarcoma 81, 83, 160-163, 261-262 - branchial cleft anomaly 18
Scheie syndrome (MPS IS) 49 - fibromatosis colli 190
Schneiderian mucosa 158 - sternomastoid tumour 190
schwannoma 83,86,87 stertor 213
scleroderma 317 Stickler syndrome 42,44
sclerotherapy 221 stomodeum 101
scutum erosion in cholesteatoma 72,75 stridor 207-208, 213
second malignancy 265 Sturge- Weber-syndrome 270,276,286
Sedano system 104 subdural
sedation and anesthesia 99 - empyema 142,145
semicircular canals, congenital anomaly 12 - space 64
septal! septic - - collection 64,65
- deviation 136 subglottic stenosis 207,209,211,221,240
- ridge 136 sublingual glands 336
- spur 136 submandibular glands 336
- thrombophlebitis 145 - Wharton's duct 336
sestamibi imaging (see parathyroid gland) 332 submentovertical view (SMV) 122
sialectasis 339 subperiosteal abscess 61, 146
sialidosis 49 sulphatase deficiency, multiple 49
sialography 336 supraorbital
sialolithiasis 339 - ethmoid air cells 136
Sicca syndrome 341 - fractures 127-128
side-effects of treatment 264-265 swallowing 289,297
single! multichannel cochlear implant 22 symphyseal fracture 124
358 Subject Index

syndromes / diseases - Usher 41-42

- Alport 46 - Waardenburg 50
-Alstrom 42 - Wilderwanck 38,46
- Apert 45,116 - Wolfram 49
- Bannayan-Riley-Ruvalcaba 286 synechiae 146
- Boerhaave 317 synostosis syndromes, brain abnormalities 117-118
- Camurati-Engelmann 44 systemic lupus erythematosus (SL£) 247,318,341
- Carpenter 117
- Crohn 312
- Crouzon 45, III, 116 T
- Dandy- Walker 270 Tay-Sachs disease 49
- Di George 18, 38, 41 temporal bone
- DOOR 51 - fracture 91
- Down 52,200,281 - - classification 93
- Ehlers-Danlos 196 - - longitudinal 93
- Gardner's 262 - - oblique 93
- Goldenhar 38,101-102 - - transverse 93
- Goodman-Moghadam 51 temporomandibular joint in trauma 94
- Gradenigo 63 teratoma 81,88,159-160,191,225
- Grisel 254 Tessier system 104
- Horner 165 Thornwaldt's cyst 183
- Hunter 49 thrombophlebitis, septic 145,146
- Jackson- Weiss 117 thumb sign 223
- Jervell-Lange-Nielsen 52 thymus
- Johanson-Blizzard 38,50 - cervical 187
- Kabuki 36 - cyst 186
- Kallmann 50 - embryology 186
- Kasabach-Merritt 220 thyroglossal duct cyst 181,253
- Kawasaki 196 - papillary carcinoma 182
- Klippel-Feil 36 thyroid gland 327,332
- Klippel- Tn!nauay 286 - carcinoma 262-263
- Klippel- Tnfnauay- Weber 220 - disease, radiotherapy 265
- Letterer-Siwe 225 - ectopic thyroid 188,330
- Mallory- Weiss 316 - embryology 327
- Maroteaux-Lamy 49 - hemangiogenesis 327
- Marfan 196 - 123I-iodide imaging 328
- Maffucci 276 - lingual thyroid 195,330
- Miller 38 - mass 331
- Morquio 49 - physiology 327
- Nager 38 - sublingual thyroid 330
- Niemann-Pick 49 - 99mTc pertechnetate imaging 328
- Noonan 281 thyroiditis 251-252
- Norrie 42 - chronic lymphocytic 252,286
- Parkes- Weber 286 Tietz syndrome 51
- Pendred 2,13,36,48,262 tonsillitis 242
- Perrault 45,50 TORCH 100
- Pfeiffer 45,116 torticollis 190
- von Recklinghausen 264 toxic epidermal necrolysis 313
- Refsum 42,49 trachea
- Rendu-Osler-Weber 276,286 - agenesis 304
- Robinson 51 - injury 242
- Saethre-Chotzen 45 - stenosis 209
- Sanfilippo 49 - tracheal ring 209
- Scheie 49 tracheomalacia 211,216,309
- Sicca 341 tracheo-oesophageal fistula 208,216,208,298
-Sjogren 337,341 trauma 221-222
- Stickler 42,44 Treacher Collins
- Sturge- Weber 270,276,286 - mandibular dysostosis III
- Tay-Sachs 49 - syndrome 15,37-38,101,109-110
- Tietz 51 - - middle ear abnormality 38
- Townes-Brock 39 Treacle gene 37
- TreacherCollins 15,37,38,101,109-110 treatment, side-effects 264-265
- Turner 52,281 trigeminal artery 270
Subject Index 359

tubercle, median 100 - incompetence 292

tuberculosis 224 venous
- of oesophagus 311 - dural venous sinus thrombosis 57,63,64
tufted angioma 269,273,275 - malformation 276
tumours - - sclerotherapy 277
- neck and airways 257-265 - sinus thrombosis (dural venous sinus thrombosis) 57,63,
- nasopharyngeal (see there) 153-170 64
- second malignancy 265 vestibule I vestibular
Turner syndrome 52,281 - aqueduct, dilated I large 2, 12, 48
tympanic - large vestibular aqueduct syndrome 25
- membrane 69 - - bronchio-oto-renal syndrome 39
- - retraction 68 vestibulocochlear nerve 24,25
- plate fracture 93 videofluoroscopy 289
views
U - Caldwell's view 122
ultrafast CT (electron beam CT) 293 - of the face 122
uncinate process 135-136 - Stenvers view and cochlear implant 29
- pneumatisation 136 - submentovertical view (SMV) 122
Usher syndrome 41-42 virtual bronchoscopy 212
uvulo-palato-pharyngoplasty (UVPP) 204 vocal cord 291
- paralysis (vocal cord palsy) 207,210,242,348
v
valve W
- of Hasner 111 Waardenburg syndrome 50
- of Rosenmuller 111 Warthin's tumour 337-338
vascular Wharton's duct, submandibular glands 336
- anomalies 217, 224 Wilderwanck syndrome 38,46
- combined vascular malformation 286 Wolfram (DIDMOAD) syndrome 49
- malformation 267
- - familial cutaneous mucosal 276 y
- ring 217 yolk sac tumour 81
VATER association 301
velopharyngeal Z
- insufficiency 205 zygomatic complex fractures 125
List of Contributors

D. ARMSTRONG, MD, FRCPC B. FREDERICKS, MD

Consultant Paediatric Neuroradiologist Consultant Paediatric Radiologist
Hospital for Sick Children Royal Hospital for Sick Children
555 University Avenue Yorkhill
Toronto M5G lX8 Glasgow 3 8SJ
Canada UK

SUSAN BLASER, MD
ALAN FRYER, MD
Consultant Paediatric Neuroradiologist
Consultant Geneticist
Hospital for Sick Children
Alder Hey Children's Hospital
555 University Avenue
Eaton Road
Toronto M5G lX8
Liverpool LI2 2AP
Canada
UK
ANNE E. BOOTHROYD, MD
Consultant Paediatric Radiologist CATHERINE GAREL, MD
Alder Hey Children's Hospital Consultant Radiologist
Eaton Road Hospital Robert Debre
Liverpool LI22AP 48 Bd Serurier
UK 75935 Paris Cedex 19
France
and
Austerson Old Hall DAVID GILDAY, MD
Alvanley, Cheshire WA 6 9EH Consultant in Nuclear Medicine
UK Hospital for Sick Children
KAREN BRADSHAW, MD 555 University Avenue
Consultant Radiologist Toronto M5G lX8
Birmingham Children's Hospital Canada
Steelhouse Lane
Birmingham B4 6NH DAVID GRIER, MD
UK Consultant Paediatric Radiologist
Department of Paediatric Radiology
WC. W CHU Bristol Royal Hospital for Children
Department of Diagnostic Radiology & Organ Imaging Paul O'Gorman Building
Faculty of Medicine, Prince of Wales Hospital Upper Maudlin Street
The Chinese University of Hong Kong Bristol BS2 8BJ
Shatin, N.T. UK
Hong Kong
SUSAN J. KING, MD
RAYMOND CLARKE
Consultant Paediatric Radiologist
Consultant ENT Surgeon
Department of Paediatric Radiology
Alder Hey Children's Hospital
Bristol Royal Hospital for Children
Eaton Road
Paul O'Gorman Building
Liverpool LI2 2AP
Upper Maudlin Street
UK
Bristol BS2 8BJ
A.W DUNCAN, MD UK
Consultant Paediatric Radiologist
Department of Paediatric Radiology SAM KOTTAMASU, MD
Bristol Royal Hospital for Children Dept. of Radiology
Paul O'Gorman Building Children's Hospital of Michigan
Upper Maudlin Street 3901 Beaubien
Bristol BS2 8BJ Detroit, MI 48201
UK USA
362 List of Contributors

KIERAN MCHUGH, FRCR, FRCPI, DCH CAROLINE ROBSON, M.D., Ch.B

Consultant Radiologist, Radiology Department Assistant Professor of Radiology
Great Ormond Street Hospital for Children Children's Hospital and Harvard Medical School
London WClN 3JH 300 Longwood Ave
UK Boston, MA 02115
USA
A. McLENNAN, MD
Consultant Radiologist ALAN SPRIGG, MD ChB
Royal Hospital for Sick Children Consultant Paediatric Radiologist
Yorkhill Sheffield Children's Hospital
Glasgow G3 8SJ Western Bank
UK Sheffield SIO 2TH
UK
SIOBHAN McMAHON
Speech Therapist
DAVID STRINGER, MD
Alder Hey Children's Hospital
Senior Consultant
Eaton Road
Department of Diagnostic Imaging
Liverpool Li2 2AP
National University Hospital
UK
5 Lower Kent Ridge Road
C. METREWELI, MD Singapore
119074
Professor
Department of Diagnostic Radiology & Organ Imaging
Prince of Wales Hospital NEVILLE WRIGHT, MD
Shatin, N.T. Consultant Paediatric Radiologist
Hong Kong Alder Hey Children's Hospital
Eaton Road
PETER D. PHELPS, MD, FRCS, FRCR Liverpool Li2 2AP
Consultant Radiologist UK
Department of Clinical Radiology
Walsgrave Hospitals NHS Trust
Clifford Bridge Road
Coventry CV2 2DX
UK

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