Magnetic resonance imaging and proton MR spectroscopy of the brain in a patient with carbohydrate-deficient glycoprotein syndrome type I.
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.
Takeuchi
Mayumi
M
Department of Radiology, School of Medicine, University of Tokushima, Tokushima, Japan.
Harada
Masafumi
M
Hisaoka
Sonoka
S
Nishitani
Hiromu
H
Mori
Kenji
K
Sakama
Minoru
M
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