Maple syrup urine disease

Case contributed by Fakhry Mahmoud Ebouda
Diagnosis almost certain


Young female patient with disturbed conscious level to exclude a central cause.

Patient Data

Age: 9 years
Gender: Female

Widespread diffuse hypodensity of the white matter of the brain mostly involving both thalami, brain stem and bilateral cerebellar peduncles. Bilateral caudate and lentiform nuclei well-defined CSF-density likely representing vacuolating myelinopathy.

Case Discussion

CT appearances of a known case of maple syrup urine disease.

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