title: Typical neuroradiological diagnosis of maple syrup urine disease as a precursor to clinical diagnosis. A case report.
abstract: Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder. It is due to decreased de-carboxylation of branched-chain amino acids (leucine, valine, and isoleucine) so their accumulation gives a characteristic maple syrup odour in urine and leads to severe neurological deterioration. Early diagnosis and dietary intervention prevent complications and may allow for normal intellectual development. Various types of MSUD exist, classical MSUD being the most common and severe form of this disease. We describe a case of classical MSUD in a four- month-old infant where the MR imaging suggested the diagnosis of MSUD prior to the clinical diagnosis which was further confirmed by laboratory techniques.
authors.affiliation: Radiology Department, KGS Advanced MR and CT Scan; Madurai, India - mail@kgsscans.com.
authors.forename: K G
authors.initials: KG
authors.lastname: Srinivasan
authors.forename: S
authors.initials: S
authors.lastname: Ramprabananth
authors.forename: K P
authors.initials: KP
authors.lastname: Ushanandhini
authors.forename: S
authors.initials: S
authors.lastname: Srividya