title: CT and MRI in maple syrup urine disease.
abstract: We describe a patient with a variant form of maple syrup urine disease who had unusual CT and MRI features that raised the suspicion of a metabolic disease. There were low density and abnormal signal in the white matter and pallida. Sponginess in these areas is the likely explanation for these findings.
authors.affiliation: Department of Pediatric Neurology, Istituto Neurologico C. Besta, Milan, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Uziel
authors.forename: M
authors.initials: M
authors.lastname: Savoiardo
authors.forename: N
authors.initials: N
authors.lastname: Nardocci
mesh_terms: D000597:Amino Acids, Branched-Chain / Q000378:metabolism; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002478:Cells, Cultured; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008375:Maple Syrup Urine Disease / Q000175:diagnosis / Q000000981:diagnostic imaging*; D010084:Oxidation-Reduction; D014057:Tomography, X-Ray Computed
chemical_list: D000597:Amino Acids, Branched-Chain