title: Congenital hypomyelination with axonopathy.
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.
authors.affiliation: Laboratoire d'Anatomie Pathologique, Hôpital Pellegrin, Bordeaux, France.
authors.forename: A
authors.initials: A
authors.lastname: Vital
authors.forename: C
authors.initials: C
authors.lastname: Vital
authors.forename: M
authors.initials: M
authors.lastname: Coquet
authors.forename: X
authors.initials: X
authors.lastname: Hernandorena
authors.forename: J M
authors.initials: JM
authors.lastname: Demarquez
mesh_terms: D001369:Axons / Q000648:ultrastructure*; D006801:Humans; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000473:pathology*; D009413:Nerve Fibers, Myelinated / Q000648:ultrastructure*