You are on page 1of 3

R A D I O L O G I C A L C A S E

Pyle-type metaphyseal dysplasia

Adejimi O. Adeniji, MD

CASE SUMMARY
A 3-year-old girl came to the radiol- A B C D
ogy department from the genetics clinic,
where she was referred because of
widening of the bones in her legs. There
was concern that other bones were
involved.
The patient was delivered by sponta-
neous vaginal delivery at term, after
an uneventful pregnancy and weighed
6 pounds, 12 ounces.
She had a history of genu valgum,
which was noticed at 13 months of age.
Her prior medical and surgical histo-
ries were not significant. There was no
history of bony fractures, hip disloca-
tion or mental retardation.
She had a maternal half-sister who
was 12 years old and healthy and the
patient also had a younger 2-year-old
full sister who had started to show the FIGURE 1. “Erlenmeyer flask” femoral deformity in the right (A )and left (B) femurs with lat-
same signs of widening of the leg bones eral S-shaped bowing of the right (C) and left (D) tibiae.
and genu valgum.
There was no history of consanguin- IMAGING FINDINGS Differential diagnosis: Chronic ane-
ity. Her developmental history was also Skeletal survey revealed a mildly mia (e.g. Sickle-cell disease), osteopetro-
within normal limits. hyperostotic skull, with mild frontal sis, Gaucher disease and Niemann-
Physical examination revealed her bossing. There was metaphyseal widen- Pick disease.
weight to be slightly beneath the 50th ing of the long bones. Lateral bowing of
percentile and her height was just above the tibiae produced an S-shaped config- DISCUSSION
the 50th percentile. uration (Figures 1C and 1D). However, Pyle-type metaphyseal dysplasia is
She had no facial dysmorphism, the spine was normal (Figure 5). an extremely uncommon and rare
with no obvious clinodactyly, poly- genetic skeletal disorder inherited in an
dactyly or syndactyly. No dental caries DIAGNOSIS autosomal-recessive pattern (Gorlin et
were noted. There was no evidence of Pyle-type metaphyseal dysplasia (or al. 1970.1 This means that both parents
scoliosis or platyspondyly. Pyle’s disease) are unaffected, but there is a 25%

40A ■ APPLIED RADIOLOGY ©


www.appliedradiology.com July–August 2009
R A D I O L O G I C A L C A S E

A B

FIGURE 2. Undertubulation of both humeri in their proximal two-thirds.

A B A B

FIGURE 3. Undertubulation of the distal FIGURE 4. Skull radiographs, AP and lateral views. There is mild sclerosis of the skull base
two-thirds of the radius and ulna. Inciden- with prominence of the frontal bones
tally noted, is lucency in the left wrist (right
arrow), which could be either due to a vac-
uum phenomenon or artifactual.

chance the affected alleles will pass to a Pyle first described the skeletal be distinguished and separated from
developing embryo and produce the anomaly in 1931. Less than 35 genuine craniometaphyseal dysplasia, for prog-
widened biones. The actual gene or cases have since been reported. nostication, since deafness, facial
genetic defect is unknown, and cannot Pyle-type metaphyseal dysplasia is paralysis and occasional impairment of
therefore be tested. The striking radi- clinically, radiographically and geneti- vision may result from cranial nerve
ographic manifestations contrast with cally distinct from craniometaphyseal compression in the latter, whereas,
the relatively normal clinical features. dysplasia, a relatively common condi- they are unusual in the former.1,2
Genu valgum is the only consistent tion with which it has been confused. Bone fragility and spinal malalign-
abnormality. Pyle-type metaphyseal dysplasia must ment or scoliosis is infrequent but are

July–August 2009 www.appliedradiology.com APPLIED RADIOLOGY ©


■ 40B
R A D I O L O G I C A L C A S E

well-documented complications.3,4 CONCLUSION:


Carious and misplaced teeth,4 and In spite of the striking radiographic
patchy sclerosis of the cranial vault manifestations, there are a few clinical
with associated moderate supraorbital stigmata and the condition has a
prominence and prognathism are fea- benign course.
tures that have been reported in Pyle-
type metaphyseal dysplasia.3 REFERENCES
Genetic considerations are also rel- 1.Gorlin RJ, Koszalka MF, Spranger J. Pyle’s dis-
ease (familial metaphyseal dysplasia. A presenta-
evant, as craniometaphyseal dysplasia tion of two cases and argument for its separation
is transmitted as an autosomal domi- from craniometaphyseal dyslasia. J Bone Joint
nant, whereas, inheritance in Pyle-type Surg Am. 1970;52(2):347-354.
2. Mabille JP, Benoit JP, Castera D. Dysplasie
metaphyseal dysplasia is autosomal metaphysaire de Pyle. Ann of Radiol (Paris).
recessive.5 1973;16:723-730.
In Pyle-type metaphyseal dysplasia 3.Pyle, E. A case of unusual bone development. J
Bone Joint Surg Am. 1931;13:874-876.
there are gross abnormalities of the 4.Bawkin, H, Krida, A. Familial metaphyseal dys-
tubular bone modeling, with associated plasia. American Journal of Diseases of Children.
mild sclerosis of the cranium. Promi- 1937;53:1521-1527.
5. Raad MS, Beighton, P. Autosomal recessive
nent radiographic features in the long inheritance of metaphyseal dysplasia (Pyle dis-
tubular bones consist of splaying of the ease). Clin Genet. 1978;14: 251-256.
metaphyses with relative constriction
of the diaphyses. The changes are most
obvious in the distal femora, where the
appearance has been likened to an Prepared by Adejimi O. Adeniji,
“Erlenmeyer flask.” Failure of model- MD, Divisional Chairman, Pedi-
ing may also be seen in the short tubu- atric Radiology, John Stroger Hos-
lar bones, with widening of the medial
pital of Cook County, Chicago, IL.
ends of the clavicles, sternal ends of
FIGURE 5. Normal lateral view of the spine. the ribs and pubic bones.

40C ■ APPLIED RADIOLOGY ©


www.appliedradiology.com July–August 2009