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Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita

✍ Scribed by Kevin B. Boylan; Donna M. Ferriero; Claudia M. Greco; R. Ann Sheldon; Michael Dew

Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
645 KB
Volume
31
Category
Article
ISSN
0364-5134

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✦ Synopsis

A term male infant is described with a n isolated disorder of peripheral myelination. A t necropsy, the great majority of medium-to-large axons were unmyelinated. Electron microscopy showed normal axons and redundant lamination of basement membrane, suggestive of early onion bulb pathology. Immunohistochemistry of peripheral nerve showed deficiency of the myelin proteins P2 and Po, myelin basic protein, and myelin-associated glycoprotein. Arrest of peripheral myelination at the promyelin stage appears to be the origin of myelin deficiency.

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