Abstract
Maple syrup urine disease (MSUD) is caused by a genetic defect of branched-chain amino acids, which include leucine, isoleucine and valine. These patients usually present with acute metabolic crisis. MRI fi ndings are diffuse oedema involving the cerebellar white matter, pons, bulbus, cerebral peduncles, the posterior limbs of the internal capsules and the thalami. This MR image is called MSUD oedema. Diffusion-weighted imaging fi ndings are also present at the same areas. We report a newborn patient who had a prediagnosis of metabolic disease and who was determined to have MSUD by MR and diffusion-weighted MR imaging at 18 days of life. We want to emphasize that we should concentrate on the early diagnosis of MSUD with the characteristic MR and diffusion-weighted MR imaging fi ndings in a lethargic newborn before completing the metabolic work-up
Keywords: Maple syrup urine disease, Cranial magnetic resonance imaging, Newborn
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