| Literature DB >> 17383133 |
Takafumi Sakakibara1, Yukihiro Takahashi, Kazuyoshi Fukuda, Tomomi Inoue, Tomoko Kurosawa, Toshiya Nishikubo, Midori Shima, Toshiaki Taoka, Noriko Aida, Seiichi Tsujino, Naomi Kanazawa, Akira Yoshioka.
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.Entities:
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Year: 2007 PMID： 17383133 DOI： 10.1016/j.braindev.2007.02.002
Source DB: PubMed Journal: Brain Dev ISSN： 0387-7604 Impact factor: 1.961