Fluctuation of computed tomographic findings in white matter in Alexander's disease.
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.
Shiihara
Takashi
T
Department of Pediatrics, Yamagata University School of Medicine, Japan. shiihara@med.id.yamagata-u.ac.jp
Kato
Mitsuhiro
M
Honma
Tomomi
T
Ohtaki
Shinsuke
S
Sawaishi
Yukio
Y
Hayasaka
Kiyoshi
K
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
D005904:Glial Fibrillary Acidic Protein