Heather Borders, MD
over 4 years ago
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Joseph Junewick, MD FACR
|Diagnostic Category: Metabolic
|Created: over 5 years ago
|Updated: over 5 years ago
4 year old female with thoracolumbar kyphosis.
Dysostosis Multiplex (Hurler Syndrome)
CR – 1) Enlarged calvaria with shallow J-shaped sella tursica, 2) Thoracolumbar kyphosis with beaking of the anterior L2 vertebral body. 3) Small flared ilia with tapered inferior margins and steep acetabula with spiked margins.
Dysostosis multiplex is an autosomal recessive disorder that results in the intralysosomal accumulation of a variety of complex carbohydrates, all of which have similar skeletal manifestations. The skull is enlarged with thick diploe and J-shaped sella tursica. In the chest, the ribs are oar-shaped, the clavicles are wide and the scapulae are thick. Vertebral bodies are often ovoid with anterior hook-like projections. The inferior ilia are consticted and the iliac wings are flared. The long tubular bones show irregular diaphyseal modeling, submetaphyseal constriction and shortening. The short tubular bones demonstrate metaphyseal widening and epiphyseal dysplasia; the proximal 2nd through 5th metacarpal bones are tapered. Overall bones are demineralized with coarse trabeculation.
Spranger JW, Brill PW, Poznanski A. Bone dysplasias: An atlas of genetic disorders of skeletal development, 2nd Ed. Oxford University Press (2002).