Maple syrup urine disease

Case contributed by Dr Fakhry Mahmoud Ebouda

Presentation

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

Patient Data

Age: 9 years
Gender: Female
CT

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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Case information

rID: 67780
Published: 28th Apr 2019
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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