Spine
Hypertrophied Cauda Equina
Presenting As Intradural Mass:
Case Report and Review
of Literature
Michael Hahn, M.D.,* Alan Hirschfeld, M.D., and Howard Sander, M.D.†
*Department of Neurosurgery, †Department of Neurology, St. Vincent’s Hospital, New York,
New York
Hahn M, Hirschfeld A, Sander H. Hypertrophied cauda equina
presenting as intradural mass: case report and review of litera-
ture. Surg Neurol 1998;49:514 –9.
BACKGROUND
Hereditary motor and sensory neuropathy types I and III
usually lead to enlargement of peripheral nerves. Rarely,
spinal nerve roots may also be involved, leading to radic-
ulopathy and/or myelopathy.
METHODS
This 44-year-old man with back and lower extremity ra-
dicular pain and distal lower extremity weakness and
numbness was found to have a nonenhancing intradural
mass that caused a nearly complete myelographic block
from L1–L4. He underwent a decompressive laminectomy
with intradural exploration.
RESULTS
Hypertrophic but otherwise normal-looking nerve roots
were observed. Subsequent electrodiagnostic testing and
sural nerve biopsy confirmed that this patient had a
previously unsuspected hereditary motor and sensory
neuropathy (HMSN). His pain resolved, but at latest
follow-up his weakness and numbness persisted.
CONCLUSIONS
Nonenhancing spinal intradural mass lesions may repre-
sent enlarged nerve roots, which have a number of po-
tential etiologies. Electrodiagnostic studies and periph-
eral nerve biopsy are instrumental in establishing the
diagnosis of HMSN. © 1998 by Elsevier Science Inc.
KEY WORDS
Cauda equina, nerve roots, hereditary motor and sensory
neuropathy.
ypertrophic neuropathy is an uncommon eti-
H ology of spinal intradural mass lesions. Pro-
cesses that lead to hypertrophic neuropathy in-
clude acromegaly, amyloidosis, Refsum’s disease,
Address reprint requests to: Alan Hirschfeld, M.D., Department of Neu-
rosurgery, St. Vincent’s Hospital and Medical Center of New York, 153
West 11th Street, New York, NY 10011.
Received September 11, 1996; accepted February 5, 1997.
0090-3019/98/$19.00
PII S0090-3019(97)00160-2
leprosy, neurofibromatosis, chronic inflammatory
demyelinating polyradiculoneuropathy syndrome,
and hereditary motor and sensory neuropathies
type I [Charcot-Marie-Tooth (CMT) disease], and
type III [Dejerine-Sottas (DS) disease] [1]. These
processes only rarely cause symptomatic spinal
nerve root enlargement. This occurs so infre-
quently that, when central nervous system (CNS)
dysfunction is encountered, even in an individual
with known hereditary motor and sensory neurop-
athy (HMSN), other etiologies such as spondylotic,
infectious, granulomatous, and neoplastic dis-
eases are usually considered. We report a patient
with no previous neurologic complaints, who pre-
sented with progressive back and leg pain, leg
weakness and numbness, and an intradural mass on
both magnetic resonance imaging (MRI) and
myelography.
Case Report
This 44-year-old right-handed white man presented
with a 3-month history of progressive low back and
bilateral leg pain, and distal lower extremity numb-
ness and weakness. The pain tended to be worse at
night and when he laid down. The patient denied
bowel or bladder dysfunction. Three months prior
to the onset of symptoms, he had been struck on
the head by a falling concrete block. No loss of
consciousness was reported, but he had fallen onto
his buttocks.
Physical examination revealed an obese white
man with profound bilateral tibialis anterior, tibialis
posterior, and extensor hallucis longus weakness,
patchy deficits to pin prick sensation from L4 –S1,
and loss of proprioception and vibration sense at
the ankles. Sacral sensation was only mildly affected
© 1998 by Elsevier Science Inc.
655 Avenue of the Americas, New York, NY 10010
Hypertrophied Cauda Equina
and there was no significant gastrocnemius, ham-
string, quadriceps, or ileopsoas weakness. His
Achilles and patellar tendon reflexes were absent
bilaterally. MRI of the lumbar spine showed a non-
enhancing mass filling the thecal sac from L1–L4,
which was isointense to spinal cord on all se-
quences (Figure 1). There was also mild posterior
scalloping of several vertebral bodies and a slight
compression fracture of L1 that was attributed to
his prior trauma. Because of difficulty in perform-
ing a myelogram via lumbar puncture, a C1–2 my-
elogram was performed, followed by computer-
ized tomography (CT). A protein level of 133 was
the only CSF abnormality. The myelogram showed
a nearly complete block with a “paint-brush” ap-
pearance, at L1 (Figure 2A), and the CT demon-
strated specks of contrast material within the
mass (Figure 2B), felt to possibly represent the
interstices between enlarged nerve roots. Due to
an enlarged hilar lymph node on chest X ray and
CT scan, sarcoidosis was also considered in the
differential diagnosis, which included arachnoid-
itis, hemorrhage from previous trauma, and
neoplasia.
Surg Neurol 515
1998;49:514 –9
T2-weighted (left) and T1-
1 weighted postenhancement
(right) sagittal MRI showing fill-
ing of the thecal sac from the
bottom of L1 to the top of L5
with nonenhancing soft tissue
mass.
Due to the patient’s severe, progressive neuro-
logic deficits, a decompressive laminectomy of L4
and L5 was performed at this time. Upon opening
the dura and arachnoid, the nerve roots of the
cauda equina were found to be markedly thickened
and enlarged, but otherwise healthy in appearance
(Figure 3). No further pathology was noted, and,
after releasing CSF from both above and below the
dural incision, the dura could be closed easily.
Postoperatively, the patient reported near com-
plete resolution of his back pain and some improve-
ment in his ability to walk. However, his numbness
and weakness did not objectively improve.
A diagnosis of HMSN was postulated, and, upon
questioning, one of the patient’s older relatives re-
vealed that several family members had had a va-
riety of unexplained foot abnormalities and neuro-
logic symptoms. Electrodiagnostic studies were
then performed. Lower extremity sensory and mo-
tor, and upper extremity sensory nerve conduction
potentials were absent or had very low amplitudes.
Upper extremity motor nerve conduction potentials
revealed severe slowing (approximately 10 m/s)
with a moderate decrease in amplitudes and little
516 Surg Neurol
1998;49:514 –9
(A) Anteroposterior view
2 from C1-2 injection myelo-
gram, showing widening of the-
cal sac starting at T-12, and
blockage of contrast flow below
L2; (B) Postmyelogram CT im-
age at L1, showing specks of
contrast within soft tissue intra-
dural mass.
temporal dispersion upon distal stimulation. Nee-
dle electromyography revealed fibrillation poten-
tials and neuropathic motor units in bilateral distal
leg and also gluteus medius and biceps femoris
(short head) muscles. Proximal S1-innervated mus-
cles, upper extremity and paraspinal muscles above
the surgical site were normal. These findings are
most consistent with a demyelinating HMSN, with
secondary axonal degeneration, as well as superim-
posed bilateral L5 radiculopathies. A hereditary eti-
ology of the polyneuropathy is suggested by the
lack of temporal dispersion (Figure 4).
The patient’s left sural nerve was biopsied. Patho-
logic findings revealed a hypertrophic neuropathy
Hahn et al
with “onion bulb” formation, fibrocyte proliferation,
and increased endoneurial collagen consistent with
HMSN type I. A negative blood test for CMT-specific
junction fragment duplication on chromosome 17p
ruled out a diagnosis of the IA variant of CMT dis-
ease. Examination of the patient revealed palpably
thickened superficial radial nerves at the wrists,
and ulnar nerves at the elbows. At his 1 month
follow-up visit, the patient reported a significant
relief of his back and leg pain with improved ambu-
lation. Physical examination did not reveal any ob-
jective improvement in his sensory or motor find-
ings. The patient’s sister, age 34 years, was
subsequently evaluated electrodiagnostically. She
Hypertrophied Cauda Equina
Intraoperative photograph, showing thickened
3 nerve roots extruding through arachnoid incision.
had diffuse, severe nerve conduction slowing in
both upper and lower extremities, with minimal
temporal dispersion and no denervation on needle
electromyography, clearly confirming a hereditary
demyelinating neuropathy.
Discussion
CMT disease, also known as hereditary motor sen-
sory neuropathy, type I, is characterized by periph-
eral nerve enlargement, muscle weakness and atro-
phy, foot deformities such as pes cavus, and
pathologic findings of segmental demyelination and
attempted remyelination, leading to so-called “on-
ion bulb” formation [2]. The most common variant,
HMSN-IA, is inherited in an autosomal dominant
fashion, is generally milder than other variants, and
is associated with a chromosome 17p duplication
that is detectable by a commercially available
blood test [2]. The product of this gene is periph-
eral myelin protein 22. Another variant, HMSN-IB, is
associated with a chromosome 1q defect, linked to
the Duffy blood group locus. HMSN IC and ID have
also been described. Dejerine-Sottas (DS) disease,
or HMSN type III, also typically presents with hy-
pertrophied peripheral nerves. The diagnosis of
HMSN I or III is usually based upon peripheral nerve
biopsy findings, and on electrodiagnostic studies
[2]. The latter show severely slowed conduction
velocities indicating peripheral nerve demyelina-
tion. In addition there is a relative preservation of
waveform morphology (little temporal disper-
sion) indicating a diffuse, uniform demyelination
of all nerve fibers, which is characteristic of a
hereditary etiology. With increasing severity of
illness, the responses become absent and fibril-
lation potentials appear on needle electromyogra-
phy indicating secondary axonal degeneration,
Surg Neurol 517
1998;49:514 –9
which causes the majority of the patient’s clinical
symptomatology.
It is quite rare for patients with HMSN to present
with CNS manifestations. Carlin et al. [1] reviewed
six cases of “hypertrophic interstitial neuritis” re-
ported prior to 1982, which had presented with
radiculopathy or myelopathy, and myelographic ev-
idence of enlarged nerve roots and partial or com-
plete cerebrospinal fluid (CSF) blocks. Since then,
to our knowledge, eight such cases with CMT dis-
ease and two with DS disease, have been reported
[3–5,7,8,11,12]. In roughly one-half of these patients,
the diagnosis of HMSN had not been made prior to
the onset of CNS findings. Although standard MRI
sequences and lack of enhancement with gadolin-
ium may lead one to suspect hypertrophied nerve
roots, the use of fast spin echo sequences [3], or the
visualization of contrast interspersed within an oth-
erwise homogenous mass after myelography, is
even more suggestive of this entity. Other radio-
graphic features include scalloping of the posterior
border of lumbar vertebral bodies, and widening of
multiple intervertebral foramina. Other entities that
cause homogeneous intradural masses generally
enhance with contrast [6]. Even cystic tumors dis-
play enhancement around their rims [10]. Arach-
noiditis and sarcoidosis, which were considered as
potential diagnoses in our patient, usually enhance.
Two entities that do not enhance are intradural
collections of blood [14] and the redundant nerve
root syndrome first described by Verbeist in 1951
[15], and more recently reported by Suzuki et al.
[13], and Naguib et al. [9]. In the former, one would
Left ulnar motor nerve conduction study recording
4 over the hypothenar eminence and with stimulation
(top to bottom) at the wrist and below the elbow. There
is severe slowing of nerve conduction (12 m/s) with rel-
ative preservation of waveform morphology suggesting a
hereditary demyelinating neuropathy.
518 Surg Neurol
1998;49:514 –9
not expect the mass to be isointense to spinal cord
on all sequences, and in the latter, there is often a
concomitant lumbar canal stenosis. The elevated
CSF protein found in most patients with HMSN in-
volving the spinal nerve roots is nonspecific, and
does not help to establish this diagnosis. In the
patient presented here, there were several factors
that hindered our making the correct diagnosis pre-
operatively. The first was our initial failure to elicit
a family history of neurologic problems or to de-
tect the patient’s palpably enlarged peripheral
nerves. The second factor was the recent history of
trauma to the head and buttocks, with evidence of
axial loading forces causing a compression fracture
of L1. The third factor was the abnormality seen in
the chest X ray and CT scan that was suggestive of
sarcoidosis.
The majority of reported cases of HMSN leading
to hypertrophic nerve roots do not mention surgi-
cal therapy or its results. In those patients who
have undergone surgery, it has usually consisted of
multilevel laminectomies with dural patch grafting
to decrease the constriction caused by a confin-
ing intact dura. Results have not always been
excellent, but what improvement has been ob-
tained may have been due to release of pressure
on the vasculature of the hypertrophied nerve
roots. The pain relief noted by the patient in this
report may be attributable to decompression of
his L5 roots that were clearly abnormal on elec-
trophysiologic testing.
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O. Compression syndromes due to hypertrophic
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type I. Neurology 1989;39:1173–7.
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1992;17:1337– 42.
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Cauda equina syndrome in a patient treated with oral
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COMMENTARY
This is certainly a rare and very unusual entity. I
have heard from other colleagues of enlarged spinal
nerve roots that on biopsy have proven to have
“onion whorl” or hypertrophic neuropathic
changes. These, though have usually been solitary
root(s) and not the entire cauda equina, as is so
documented in this case. Hypertrophic neuropathy
or “onion bulb” or “whorl” change can affect pe-
ripheral nerves and be unassociated with CMT
disease or DS disease, or other causes of nerve
enlargement such as amyloidosis or Hansen’s dis-
ease. This type of localized hereditary neuropa-
thy is not at the present time felt to be genetically
linked. Loss of function is usually progressive but
can sometimes be partially reversed by resection
of the abnormal segment of nerve and graft re-
pair. Such, of course, would not seem practical
here where all of the cauda equina was so exten-
sively involved.
The case presented does show an MRI disc and
spondylitic changes at multiple levels, but these
changes do not seem to provide enough stenosis to
account for an irritative change in all of the cauda
equina, so the process was primary to nerve(s).
This was well corroborated by subsequently attain-
ing a family history compatible with hereditary neu-
ropathy, the very abnormal conductive studies on
Hypertrophied Cauda Equina Surg Neurol 519
1998;49:514 –9

both upper and lower extremity nerves, enlarged
peripheral nerves on examination, and a sural nerve
biopsy that showed hypertrophic “onion bulb”
changes. Should a similar situation be encountered
in the future, I think one is justified in decompress-
ing the cauda equina, verifying a root change by
biopsy, and then considering whether “expansion”
of the caudal sac by means of a dural graft is in-
dicated. Unfortunately, functional loss, although
slowed down, may still progress and pain, although
initially relieved, may recur.
David G. Kline, M.D.
Neurosurgery Department
Louisiana State University Medical Center
New Orleans, Louisiana

ven if a teenager has no intention to start smoking, tobacco

E advertising and promotional items can lead one-third of them
to try, according to an article in the February 18 issue of the
Journal of the American Medical Association (JAMA).
John P. Pierce, Ph.D., from the University of California, San Diego,
in La Jolla, and colleagues conducted the first longitudinal study on
the effect of cigarette promotion on teenagers. In 1993, they
interviewed 1752 California adolescents (age 12 to 17 years old)
who had never smoked and who had said they had no plans to
start smoking, even if a friend offers them a cigarette. The
adolescents were reinterviewed in 1996.
They write: “From these data, we estimate that 34 percent of all
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showed any susceptibility to become smokers.”
—AMA Press Release
February 17, 1998