Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3038352 | Brain and Development | 2007 | 4 Pages |
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.
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Developmental Neuroscience
Authors
Takafumi Sakakibara, Yukihiro Takahashi, Kazuyoshi Fukuda, Tomomi Inoue, Tomoko Kurosawa, Toshiya Nishikubo, Midori Shima, Toshiaki Taoka, Noriko Aida, Seiichi Tsujino, Naomi Kanazawa, Akira Yoshioka,