title: Neuroradiological findings in maple syrup urine disease.
abstract: Maple syrup urine disease is a rare inborn error of amino acid metabolism involving catabolic pathway of the branched-chain amino acids. This disease, if left untreated, may cause damage to the brain and may even cause death. These patients typically present with distinctive maple syrup odour of sweat and urine. Patients typically present with skin and urine smelling like maple syrup. Here we describe a case with relevant magnetic resonance imaging findings and confirmatory biochemical findings.
authors.affiliation: Department of Radiodiagnosis, Sree Balaji Medical College and Hospital, Chennai, India.
authors.forename: Venkatraman
authors.initials: V
authors.lastname: Indiran
authors.forename: R Emmanuel
authors.initials: RE
authors.lastname: Gunaseelan
keywords: Magnetic resonance imaging; maple syrup urine disease; restricted diffusion