Maple syrup urine disease

Case contributed by Dr Salman Albakheet

Presentation

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

Patient Data

Age: Baby
Gender: Female

BRAIN CT SCAN

Modality: CT

The white matter of the cerebellar hemispheres appears more hypodense. Oedematous 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.

MRI BRAIN

Modality: MRI

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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Case Information

rID: 33364
Case created: 8th Jan 2015
Last edited: 19th Mar 2017
Inclusion in quiz mode: Included

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