title: Magnetic resonance imaging and proton MR spectroscopy of the brain in a patient with carbohydrate-deficient glycoprotein syndrome type I.
abstract: This is a report on a case of carbohydrate-deficient glycoprotein syndrome (CDGS) with neurological deficits. Magnetic resonance (MR) images showed remarkable atrophy of the cerebellum and brainstem, and hypointensity was seen in the pallidum on diffusion-weighted images (DWI), suggesting deposits of metal substances. In the cerebellum, proton MR spectroscopy (MRS) showed decreased concentrations of N-acetylaspartate and a complex of glutamine and glutamate (Glx) while the concentration of myo-inositol was increased, indicating neuronal impairment and gliosis. In the parietal lobe, there was an increased concentration of Glx, possibly reflecting dysfunction caused by liver injury.
authors.affiliation: Department of Radiology, School of Medicine, University of Tokushima, Tokushima, Japan.
authors.forename: Mayumi
authors.initials: M
authors.lastname: Takeuchi
authors.forename: Masafumi
authors.initials: M
authors.lastname: Harada
authors.forename: Sonoka
authors.initials: S
authors.lastname: Hisaoka
authors.forename: Hiromu
authors.initials: H
authors.lastname: Nishitani
authors.forename: Kenji
authors.initials: K
authors.lastname: Mori
authors.forename: Minoru
authors.initials: M
authors.lastname: Sakama
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology*; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis*; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male