NMP09 Congenital hypomyelination neuropathy: clinical case
β Scribed by C. Burloiu; N. Butoianu; M. Vasile; M. Alexianu; E. Manole
- Book ID
- 114359581
- Publisher
- Elsevier Science
- Year
- 2007
- Tongue
- English
- Weight
- 44 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1090-3798
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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. Immunohi
## Abstract Autopsy examination of a 31/4βyearβold child with a severe congenital hypomyelination neuropathy showed the anterior spinal nerve roots and motor cranial nerves to be almost devoid of myelin in their subarachnoid course. The posterior spinal nerve roots and peripheral nerves were less s