先天性髓鞘形成不足伴轴索性病变。
Congenital hypomyelination with axonopathy.
作者信息
Vital A, Vital C, Coquet M, Hernandorena X, Demarquez J M
机构信息
Laboratoire d'Anatomie Pathologique, Hôpital Pellegrin, Bordeaux, France.
出版信息
Eur J Pediatr. 1989 Feb;148(5):470-2. doi: 10.1007/BF00595918.
PMID:2920756
Abstract
We report a case of congenital neuropathy taking a rapidly fatal clinical course. Ultrastructural features of the peripheral nerve were unusual with sparsity of myelinated fibres, lack of "onion bulb" formation and presence of axonal damage. This case is compared with previously reported cases of early infantile neuropathy.
摘要
我们报告一例先天性神经病变，其临床病程迅速致命。外周神经的超微结构特征异常，有髓纤维稀少，缺乏“洋葱球”形成，且存在轴突损伤。将该病例与先前报道的早发性婴儿神经病变病例进行了比较。
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