Journal of Computer Assisted Tomography 1984-Jun
Cerebral computed tomography in maple syrup urine disease.
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Abstrakti
Maple syrup urine disease (MSUD) is an inherited metabolic disorder due to decreased decarboxylation of branched chain keto acids triggering an accumulation of leucine, isoleucine, and valine. We describe two infants with biochemically confirmed MSUD in whom computed tomography (CT) revealed cerebral edema. In one of these cases repeat CT 40 days after institution of appropriate therapy revealed that the edema had disappeared and the ventricles had enlarged.