title: A case of infantile Alexander disease diagnosed by magnetic resonance imaging and genetic analysis.
abstract: We encountered a male infant with infantile Alexander disease presenting with megalencephaly and hydrocephalus as a neonate and subtle seizures at 3 months of age. At 6 months of age, bulbar paralysis appeared. Brain magnetic resonance imaging (MRI) showed abnormal findings with white matter involvement and a characteristic periventricular rim, satisfying the diagnostic criteria proposed by van der Knaap, except for MRI contrast. R239H mutation of glial fibrillary acidic protein gene was identified, representing a common cause of infantile-type Alexander disease.
authors: Department of Pediatrics, Nara Medical University, Japan.
authors: Takafumi
authors: T
authors: Sakakibara
authors: Yukihiro
authors: Y
authors: Takahashi
authors: Kazuyoshi
authors: K
authors: Fukuda
authors: Tomomi
authors: T
authors: Inoue
authors: Tomoko
authors: T
authors: Kurosawa
authors: Toshiya
authors: T
authors: Nishikubo
authors: Midori
authors: M
authors: Shima
authors: Toshiaki
authors: T
authors: Taoka
authors: Noriko
authors: N
authors: Aida
authors: Seiichi
authors: S
authors: Tsujino
authors: Naomi
authors: N
authors: Kanazawa
authors: Akira
authors: A
authors: Yoshioka
mesh_terms: D038261:Alexander Disease / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D001921:Brain / Q000473:pathology*; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000209:etiology; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009154:Mutation; D012640:Seizures / Q000209:etiology
chemical_list: D005904:Glial Fibrillary Acidic Protein