A case of infantile Alexander disease diagnosed by magnetic resonance imaging and genetic analysis.
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.
Sakakibara
Takafumi
T
Department of Pediatrics, Nara Medical University, Japan.
Takahashi
Yukihiro
Y
Fukuda
Kazuyoshi
K
Inoue
Tomomi
T
Kurosawa
Tomoko
T
Nishikubo
Toshiya
T
Shima
Midori
M
Taoka
Toshiaki
T
Aida
Noriko
N
Tsujino
Seiichi
S
Kanazawa
Naomi
N
Yoshioka
Akira
A
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
D005904:Glial Fibrillary Acidic Protein