MR Imaging of Brain in Maple Syrup Urine Disease: a case report

Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder caused by an inborn failure to catabolize branched-chain amino acids. We report a case of a new born boy with MSUD. The diffusion-weighted MR imaging is more sensitive than T2-weighted imaging in showing extent of brain edema. Early diagnosis and treatment of this baby achieve a good outcome.