Congenital hypomyelination with axonopathy

Eur J Pediatr. 1989 Feb;148(5):470-2. doi: 10.1007/BF00595918.

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.

Publication types

  • Case Reports

MeSH terms

  • Axons / ultrastructure*
  • Humans
  • Infant
  • Male
  • Muscle Hypotonia / pathology*
  • Nerve Fibers, Myelinated / ultrastructure*