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

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)441-444
Number of pages4
JournalBrain and Development
Issue number5
Publication statusPublished - May 2013

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology


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