Maple syrup urine disease

Case contributed by Dr Abdulmajid Bawazeer

Presentation

Poor feeding, seizure, vomiting, and hypoglycemia.

Patient Data

Age: 2 weeks
Gender: Male
MRI

There are bilateral symmetrical diffuse areas of T2/FLAIR hyperintensity involving peri-rolandic cerebral white matter, corticospinal tracts, posterior limbs of the internal capsules, cerebral peduncles, both thalami, pons and cerebellar white matter which show restricted diffusion on DWI and ADC map.

Case Discussion

Maple syrup urine disease is an inborn error of amino acid metabolism with inherited autosomal recessive pattern.

Imaging features are diagnostic in the early weeks of life. Altered signal intensity (high signal in T2-WI and DWI) involving cerebellar white matter, brain stem, globus pallidi, thalami, cerebral peduncles, and cortico-spinal tracts.

This case was confirmed by the genetic study.

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Case information

rID: 70493
Published: 28th Feb 2020
Last edited: 5th Mar 2021
Inclusion in quiz mode: Included

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