A case of Canavan disease with microcephaly

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• 作者：Vykuntaraju K. Gowda^a ; ^{drknvraju@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; ^{drknvraju08@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Maya D. Bhat^b ; Varun M. Srinivasan^c ; Chandrajit Prasad^b ; Asha Benakappa^c ; Mohammed Faruq^d
• 关键词：Canavan disease ; Microcephaly ; N-acetylaspartic acid (NAA)
• 刊名：Brain and Development
• 出版年：2016
• 出版时间：September 2016
• 年：2016
• 卷：38
• 期：8
• 页码：759-762
• 全文大小：652 K

文摘

Canavan disease is an autosomal recessive disorder with spongy degeneration of white matter of the brain. It presents with developmental delay, visual problems and macrocephaly.

Patient description

We report a ten-month old boy with Canavan disease who presented with global developmental delay, seizures, abnormal eye movements and microcephaly.

Results

MRI brain revealed diffuse involvement of the supra tentorial white matter, globus pallidi, thalami, dentate nuclei and brainstem with sparing of the corpus callosum. The genetic testing revealed homozygous mutation of aspartoacylase gene [c.859 G > A (p.Ala287Thr)] in Exon 6.

Conclusion

Possibility of Canavan disease should be considered even in the presence of microcephaly.