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Article

A case of infantile Alexander disease diagnosed by magnetic resonance imaging and genetic analysis.

Brain & development - 1 Sept 2007

Sakakibara Takafumi, Takahashi Yukihiro, Fukuda Kazuyoshi, Inoue Tomomi, Kurosawa Tomoko, Nishikubo Toshiya, Shima Midori, Taoka Toshiaki, Aida Noriko, Tsujino Seiichi, Kanazawa Naomi, Yoshioka Akira

Abstract excerpt

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...

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Identifiers

PMID: 17383133
DOI: 10.1016/j.braindev.2007.02.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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