A case of Canavan disease with microcephaly

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Vykuntaraju K Gowda1, Maya D Bhat2, Varun M Srinivasan3

  • 1Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.

Brain & Development
|March 20, 2016
PubMed
Abstract

Insights

Canavan disease, a rare genetic disorder causing brain white matter degeneration, can present with microcephaly, challenging typical diagnoses. Early consideration is key for affected infants.

Area of Science:

  • Neurogenetics
  • Pediatric Neurology
  • Biochemistry

Background:

  • Canavan disease is an inherited neurological disorder characterized by spongy degeneration of brain white matter.
  • It typically presents with developmental delay, visual impairments, and macrocephaly.

Observation:

  • A 10-month-old boy exhibited global developmental delay, seizures, abnormal eye movements, and notably, microcephaly.
  • This presentation deviated from the common macrocephaly associated with Canavan disease.

Findings:

  • Brain MRI showed widespread white matter abnormalities, affecting the cerebrum, basal ganglia, thalami, and brainstem, with relative sparing of the corpus callosum.
  • Genetic analysis identified a homozygous mutation (c.859 G>A) in the aspartoacylase gene (ASPA), confirming the diagnosis.

Implications:

  • This case highlights that Canavan disease should be suspected even when microcephaly is present, not just macrocephaly.
  • Recognizing atypical presentations is crucial for timely diagnosis and management of Canavan disease.
  • Further research into genotype-phenotype correlations in Canavan disease is warranted.
Keywords:
Canavan diseaseMicrocephalyN-acetylaspartic acid (NAA)

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