Alexander disease with mild dorsal brainstem atrophy and infantile spasms

Hiroyuki Torisu, Yoko Yoshikawa, Yui Yamaguchi-Takada, Tamami Yano, Masafumi Sanefuji, Yoshito Ishizaki, Yukio Sawaishi, Toshiro Hara

研究成果: Contribution to journalArticle査読

2 被引用数 (Scopus)

抄録

We present the case of a Japanese male infant with Alexander disease who developed infantile spasms at 8. months of age. The patient had a cluster of partial seizures at 4. months of age. He presented with mild general hypotonia and developmental delay. Macrocephaly was not observed. Brain magnetic resonance imaging (MRI) findings fulfilled all MRI-based criteria for the diagnosis of Alexander disease and revealed mild atrophy of the dorsal pons and medulla oblongata with abnormal intensities. DNA analysis disclosed a novel heterozygous missense mutation (c.1154 C>T, p.S385F) in the glial fibrillary acidic protein gene. At 8. months of age, tonic spasms occurred, and electroencephalography (EEG) revealed hypsarrhythmia. Lamotrigine effectively controlled the infantile spasms and improved the abnormal EEG findings. Although most patients with infantile Alexander disease have epilepsy, infantile spasms are rare. This comorbid condition may be associated with the distribution of the brain lesions and the age at onset of Alexander disease.

本文言語英語
ページ(範囲)441-444
ページ数4
ジャーナルBrain and Development
35
5
DOI
出版ステータス出版済み - 5 2013

All Science Journal Classification (ASJC) codes

  • 小児科学、周産期医学および子どもの健康
  • 発達神経科学
  • 臨床神経学

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