title: Infantile chronic peripheral neuropathy with giant axons. Report of a case.
abstract: An 8-year-old boy with a slowly progressive motor neuropathy is described. The first signs appeared at the age of 3 years. Histological examination of the sural nerve showed the presence of numerous segmental axonal swellings and features of demyelination as well as remyelination. These enlargements were filled with irregularly orientated 10 nm filaments. The case resembled the previously described cases of giant axonal neuropathy but differed from them in absence of kinky hair.
mesh_terms: D001369:Axons / Q000648:ultrastructure*; D002648:Child; D003711:Demyelinating Diseases; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009454:Neurofibrils / Q000648:ultrastructure; D010523:Peripheral Nervous System Diseases / Q000473:pathology*; D013127:Spinal Nerves / Q000473:pathology*; D013497:Sural Nerve / Q000473:pathology*