Brain & development · 2016
A case of Canavan disease with microcephaly.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Gowda Vykuntaraju K, Bhat Maya D, Srinivasan Varun M, Prasad Chandrajit, Benakappa Asha, Faruq Mohammed
Аннотация
BACKGROUND: 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.
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.