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  • Title: A case of infantile Alexander disease diagnosed by magnetic resonance imaging and genetic analysis.
    Author: Sakakibara T, Takahashi Y, Fukuda K, Inoue T, Kurosawa T, Nishikubo T, Shima M, Taoka T, Aida N, Tsujino S, Kanazawa N, Yoshioka A.
    Journal: Brain Dev; 2007 Sep; 29(8):525-8. PubMed ID: 17383133.
    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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