A case of Canavan disease with normocephaly - A rare entity
Journal Title: Indian Journal of Child Health - Year 2017, Vol 4, Issue 4
Abstract
Canavan disease (CD) is an autosomal recessive disorder with spongy degeneration of white matter of the brain. It typically presents with developmental delay, visual problems, and macrocephaly. Our patient presented with these features along with normocephaly. Brain magnetic resonance spectroscopy showed typical findings for CD (peaks of N-acetylaspartic acid). This case illustrates the fact that the presence of normocephaly should not be used in isolation to rule out the possibility of CD.
Authors and Affiliations
Shamsuddin Hassan, Srilatha Bajaj, Sangeeta Meena, Shyam Sundar Mina
Keywords
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