title: Computed tomography findings in maple syrup urine disease.
abstract: Maple syrup urine disease (MSUD) is an inherited metabolic disorder characterised by a severe, usually lethal, neonatal course unless dietary intake of branched chain amino acids is restricted. We describe a patient with MSUD who had computed tomography (CT) changes of diffuse white matter hypodensity, particularly in the deep white cerebellar matter, brain stem, cerebral peduncles, thalamus and posterior limb of the internal capsule. With dietary treatment, there was neurological improvement with simultaneous disappearance of the oedema. These CT changes are typical of MSUD, hence are relevant findings in the neuroradiologic differential diagnosis of a possible metabolic disorder.
authors.affiliation: Department of Paediatrics, Universiti Kebangsaan Malaysia, Jalan Raja Muda Abdul Aziz, Malaysia.
authors.forename: L C
authors.initials: LC
authors.lastname: Ong
authors.forename: T B
authors.initials: TB
authors.lastname: Khoo
authors.forename: A
authors.initials: A
authors.lastname: Zulfiqar
authors.forename: H
authors.initials: H
authors.lastname: Zarida
authors.forename: A
authors.initials: A
authors.lastname: Ruzana
mesh_terms: D000597:Amino Acids, Branched-Chain / Q000008:administration & dosage; D001921:Brain / Q000000981:diagnostic imaging*; D001929:Brain Edema / Q000000981:diagnostic imaging / Q000517:prevention & control; D001933:Brain Stem / Q000000981:diagnostic imaging; D002531:Cerebellum / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008375:Maple Syrup Urine Disease / Q000000981:diagnostic imaging* / Q000178:diet therapy; D009460:Neurologic Examination; D013788:Thalamus / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed
chemical_list: D000597:Amino Acids, Branched-Chain