A case of Canavan disease with normocephaly - A rare entity

  • Shamsuddin Hassan
  • Srilatha Bajaj
  • Sangeeta Meena
  • Shyam Sundar Mina
Keywords: Canavan’s disease, Macrocephaly, Magnetic resonance spectrometry, N-acetyl-l-aspartic acid, Normocephaly

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.

Published
2017-11-22
How to Cite
Hassan, S., Bajaj, S., Meena, S., & Mina, S. (2017, November 22). A case of Canavan disease with normocephaly - A rare entity. Indian Journal of Child Health, 4(4), 637-638. Retrieved from http://atharvapub.net/index.php/IJCH/article/view/385
Section
Case Reports

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