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Restricted diffusion in Canavan disease
Child's Nervous System, 2007Canavan disease is a megalencephalic leukodystrophy due to deficiency of the enzyme aspartoacylase. Proton MR spectroscopy finding of elevated N-acetyl-L: -aspartate is considered diagnostic of Canavan disease.We report a case of Canavan disease, which showed restricted diffusion in diffusion-weighted imaging and discuss the cause of it.
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A case of Canavan disease with microcephaly
Brain and Development, 2016Canavan disease is an autosomal recessive disorder with spongy degeneration of white matter of the brain. It presents with developmental delay, visual problems and macrocephaly.We report a ten-month old boy with Canavan disease who presented with global developmental delay, seizures, abnormal eye movements and microcephaly.MRI brain revealed diffuse ...
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