Author/Authors :
Takafumi Sakakibara، نويسنده , , Yukihiro Takahashi، نويسنده , , Kazuyoshi Fukuda، نويسنده , , Tomomi Inoue، نويسنده , , Tomoko Kurosawa، نويسنده , , Toshiya Nishikubo، نويسنده , , Midori Shima، نويسنده , , Toshiaki Taoka، نويسنده , , Noriko Aida، نويسنده , , Seiichi Tsujino، نويسنده , , Naomi Kanazawa، نويسنده , , Akira Yoshioka، نويسنده ,
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.
Keywords :
Alexander disease , Infantile type , MRI , GFAP , R239H
