title: A mild case of giant axonal neuropathy without central nervous system manifestation.
abstract: An 11-year-old boy presented with progressive walking disturbances. He exhibited severe equinovarus feet that together presented with hyperreflexia of the patellar tendon and extensor plantar, resembling spastic paraplegia or upper neuron disease. He showed mild distal muscle atrophy, as well. We did not observe signs of cognitive impairment, cerebellar signs, or brain magnetic resonance imaging abnormalities. Nerve biopsy showed giant axon swellings filled with neurofilaments. Gene analysis revealed novel compound heterozygous missense mutations in the gigaxonin gene, c.808G>A (p.G270S) and c.1727C>A (p.A576E). He was diagnosed with mild giant axonal neuropathy (GAN) without apparent central nervous system involvement. Patients with classical GAN manifest their symptoms during early childhood. Mild GAN, particularly in early stages, can be misdiagnosed because of lack of typical hair features and incomplete or indistinct peripheral and central nervous system symptoms. This case is important since it can aid to identify atypical and milder clinical courses of GAN. This report widens the mild GAN clinical spectrum, alerting physicians for correct diagnosis.
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan.
authors.forename: Reiko
authors.initials: R
authors.lastname: Koichihara
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan. Electronic address: stakashi@ncnp.go.jp.
authors.forename: Takashi
authors.initials: T
authors.lastname: Saito
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan.
authors.forename: Akihiko
authors.initials: A
authors.lastname: Ishiyama
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan.
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Komaki
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan.
authors.forename: Shota
authors.initials: S
authors.lastname: Yuasa
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan.
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Saito
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan.
authors.forename: Eiji
authors.initials: E
authors.lastname: Nakagawa
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Sugai
authors.affiliation: Department of Neurology, Gunma Children's Medical Center, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Shiihara
authors.affiliation: Department of Pathology and Laboratory Medicine, National Center Hospital, National Center of Neurology and Psychiatry, Japan.
authors.forename: Ayako
authors.initials: A
authors.lastname: Shioya
authors.affiliation: Department of Pathology and Laboratory Medicine, National Center Hospital, National Center of Neurology and Psychiatry, Japan.
authors.forename: Yuko
authors.initials: Y
authors.lastname: Saito
authors.affiliation: Department of Neurology and Geriatrics, Kagoshima University, Graduate School of Medical and Dental Sciences, Japan.
authors.forename: Yujiro
authors.initials: Y
authors.lastname: Higuchi
authors.affiliation: Department of Neurology and Geriatrics, Kagoshima University, Graduate School of Medical and Dental Sciences, Japan.
authors.forename: Akihiro
authors.initials: A
authors.lastname: Hashiguchi
authors.affiliation: Department of Neurology and Geriatrics, Kagoshima University, Graduate School of Medical and Dental Sciences, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takashima
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Sasaki
mesh_terms: D001369:Axons / Q000473:pathology; D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics; D056726:Genetic Association Studies; D056768:Giant Axonal Neuropathy / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D017966:Pyramidal Cells / Q000473:pathology
chemical_list: D003598:Cytoskeletal Proteins; C416508:GAN protein, human
keywords: CNS involvement; Gigaxonin gene; Peripheral neuropathy; Pyramidal signs