A case of Canavan disease with microcephaly
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
Summary
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.
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