Maple syrup urine disease

Case contributed by Dr Ankit Chauhan

Presentation

History of seizures since the 6th day of life. Poor feeding.

Patient Data

Age: 8 days
Gender: Female
MRI

Bilateral symmetrical restricted diffusion with corresponding low ADC value involving cerebellar the white matter, dorsal brainstem, cerebral peduncles, posterior limb of the internal capsule and centrum semiovale.

Case Discussion

The features are characteristic of Maple syrup disease.  The patient had a family history of one sibling who had died on the 9th day of life with a clinical suspicion of Maple syrup urine disease. 

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Case information

rID: 69984
Published: 2nd Aug 2019
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included
Institution: Superscan Imaging Center

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