title: Giant axonal neuropathy. Report of a case with normal hair.
abstract: A further case of giant axonal neuropathy is described. The diagnosis was made by sural nerve biopsy in a boy presenting signs of a progressive spinocerebellar syndrome with polyneuropathy. Ultrastructurally a severe abnormality of this peripheral nerve, with loss of thick myelinated nerve fibers and the presence of giant axonal swellings was evident. The axonal swellings appeared to be caused by an accumulation of filaments which were also present in Schwann cells, as well as in endothelial and perineurial cells, justifying the term of "generalized microfibrillar hyperplasia". It is most remarkable that the patient's hair was not unusual, in contrast to the previously reported cases who had "kinky hair".
mesh_terms: D000328:Adult; D001369:Axons / Q000648:ultrastructure; D001706:Biopsy; D003711:Demyelinating Diseases; D006801:Humans; D008297:Male; D007706:Menkes Kinky Hair Syndrome; D010523:Peripheral Nervous System Diseases / Q000473:pathology*; D012583:Schwann Cells / Q000648:ultrastructure; D013127:Spinal Nerves / Q000473:pathology*; D013497:Sural Nerve / Q000473:pathology* / Q000648:ultrastructure