Brain and Development 2016-Sep
A case of Canavan disease with microcephaly.
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關鍵詞
抽象
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.
METHODS
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.
CONCLUSIONS
Possibility of Canavan disease should be considered even in the presence of microcephaly.
