title: Giant axonal disease: report of three cases and review of the literature.
abstract: We describe three cases of Giant Axonal Neuropathy (GAN) with clinical signs of central nervous system involvement and an abnormal CT in one case. Two of these cases are sibs, pointing to an autosomal recessive inheritance as two other families previously reported. The review of the literature shows that most cases have central nervous system and cranial nerves involvement suggesting a generalized disorder in keeping an inborn error of organization of intermediate filaments. According to this, we think that Giant Axonal Disease (GAD) is a better designation to this condition.
authors.affiliation: Serviço de Neuropediatria, Hospital de Crianças Maria Pia, Porto, Portugal.
authors.forename: M
authors.initials: M
authors.lastname: Maia
authors.forename: M M
authors.initials: MM
authors.lastname: Pires
authors.forename: A
authors.initials: A
authors.lastname: Guimarães
mesh_terms: D000293:Adolescent; D001369:Axons / Q000648:ultrastructure*; D001706:Biopsy; D002648:Child; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009413:Nerve Fibers, Myelinated / Q000473:pathology / Q000648:ultrastructure; D009422:Nervous System Diseases / Q000000981:diagnostic imaging / Q000473:pathology* / Q000503:physiopathology; D010525:Peripheral Nerves / Q000473:pathology; D012867:Skin / Q000294:innervation; D014057:Tomography, X-Ray Computed