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Alexander disease with mild dorsal brainstem atrophy and infantile spasms

Hiroyuki Torisu1, Yoko Yoshikawa, Yui Yamaguchi-Takada

  • 1Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. htorys@pediatr.med.kyushu-u.ac.jp

Brain & Development
|July 24, 2012
PubMed

Insights

This study details a rare case of infantile spasms in a Japanese infant with Alexander disease, a genetic neurological disorder. Treatment with lamotrigine effectively managed the spasms and improved EEG findings.

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatrics

Background:

  • Alexander disease is a rare genetic leukoencephalopathy characterized by astrogliosis.
  • Infantile spasms, a severe epilepsy syndrome, are uncommon in Alexander disease patients.

Observation:

  • A Japanese male infant presented with hypotonia, developmental delay, and partial seizures.
  • Brain MRI confirmed Alexander disease criteria, showing pontomedullary atrophy and abnormal intensities.
  • Genetic analysis revealed a novel GFAP gene mutation (c.1154 C>T, p.S385F).

Findings:

  • The infant developed infantile spasms at 8 months of age with hypsarrhythmia on EEG.
  • Lamotrigine treatment successfully controlled the spasms and normalized EEG abnormalities.
  • This case highlights a rare comorbidity in infantile Alexander disease.

Implications:

  • The specific brain lesion distribution and age of onset may influence the development of infantile spasms in Alexander disease.
  • This case expands the understanding of epilepsy phenotypes in Alexander disease.
  • Early diagnosis and targeted treatment are crucial for managing comorbid conditions in rare neurological disorders.

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