title: Fluctuation of computed tomographic findings in white matter in Alexander's disease.
abstract: A Japanese boy developed febrile seizures and gait disturbance at 2 years of age and dysarthria a year later. He had generalized tonic-clonic seizures once or twice a year from the age of 4 years. Brain computed tomography (CT) showed symmetric low-density areas in the white matter of the frontal lobes. However, abnormal CT findings fluctuated occasionally, with no apparent change in clinical manifestations. Clinical evaluation at 9 years of age revealed hyper-reflexia, psychomotor retardation, megalencephaly, and slurred nasal speech. Magnetic resonance imaging showed white matter abnormalities, predominantly in the frontal lobes. He was a heterozygote of the Arg239Cys mutation of the glial fibrillary acidic protein gene and was diagnosed with Alexander's disease. Fluctuation of CT findings in white matter may reflect blood-brain barrier dysfunction in Alexander's disease.
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine, Japan. shiihara@med.id.yamagata-u.ac.jp
authors.forename: Takashi
authors.initials: T
authors.lastname: Shiihara
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kato
authors.forename: Tomomi
authors.initials: T
authors.lastname: Honma
authors.forename: Shinsuke
authors.initials: S
authors.lastname: Ohtaki
authors.forename: Yukio
authors.initials: Y
authors.lastname: Sawaishi
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Hayasaka
mesh_terms: D038261:Alexander Disease / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D001812:Blood-Brain Barrier / Q000502:physiology; D001921:Brain / Q000000981:diagnostic imaging* / Q000473:pathology*; D002675:Child, Preschool; D015870:Gene Expression; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D017354:Point Mutation / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: D005904:Glial Fibrillary Acidic Protein