title: [Giant axonal neuropathy: intermediate filament disease with involvement of the peripheral and central nervous system].
abstract: We report a case of giant axonal neuropathy in a 14 year-old turkish boy with progressive chronic neuropathy and central involvement with mental retardation. CT showed a low density and MRI imaging multiple cavities and hypersignals of the white matter. Nerve and skin biopsies revealed an accumulation of neurofilaments in axonal swellings and an accumulation of intermediate filaments in fibroblasts, Schwann cells, endothelial cells. These findings are in accordance with the reported cases. Giant axonal neuropathy results from a generalized disorder of the intermediate filaments, but the precise biochemical defect is unknown. We would agree with Maia (1988) to name this affection "Giant Axonal Disease".
authors.affiliation: Clinique de Pédiatrie et de Puériculture, Hôpital Saint-Vincent de Paul, Paris.
authors.forename: R F
authors.initials: RF
authors.lastname: Buissonnière
authors.forename: M C
authors.initials: MC
authors.lastname: Routon
authors.forename: O
authors.initials: O
authors.lastname: Robain
authors.forename: G
authors.initials: G
authors.lastname: Ponsot
authors.forename: M
authors.initials: M
authors.lastname: Arthuis
mesh_terms: D001369:Axons / Q000002:abnormalities* / Q000648:ultrastructure; D001921:Brain / Q000000981:diagnostic imaging; D002648:Child; D003599:Cytoskeleton / Q000648:ultrastructure*; D006197:Hair / Q000648:ultrastructure; D006801:Humans; D007382:Intermediate Filaments / Q000648:ultrastructure*; D008279:Magnetic Resonance Imaging; D008297:Male; D009422:Nervous System Diseases / Q000209:etiology* / Q000235:genetics; D014057:Tomography, X-Ray Computed
vernacular_title: Neuropathie à axones géants: maladie des filaments intermédiaires avec atteinte du système nerveux périphérique et central.