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Maple syrup urine disease

Case contributed by Ankit Chauhan
Diagnosis certain

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 the cerebellar white matter, dorsal brainstem, cerebral peduncles, posterior limb of the internal capsule and centrum semiovale.

Case Discussion

The features are characteristic of maple syrup urine 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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