Maple syrup urine disease

Case contributed by Salman S. Albakheet


Clinical history of maple syrup urine disease, presents in a coma.

Patient Data

Age: Baby
Gender: Female



The white matter of the cerebellar hemispheres appears more hypodense. Edematous changes also noted in the brainstem, as well as the thalami, posterior limb of internal capsule and diffusely within the white matter of the cerebral hemispheres bilaterally. Grey matter heterotopia noted in the periventricular white matter. Posterior parietal occipital encephalomeningocele.



There is diffuse high T2 signal intensity noted within the cerebellar hemisphere medially (white matter) ,brainstem , posterior internal capsule and white matter of both cerebral hemispheres with delayed myelination.

Multiple foci/islands of grey matter heterotropia noted in the periventricular white matter and the cerebellar hemisphere.

Dysplastic corpus callosum with irregular contour of the lateral ventricles.

Small posterior parietal/occipital central encephalocele/meningocele.

Case Discussion

It is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia.

The condition gets its name from the distinctive sweet odor of affected infants' urine.

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