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 myoinositol 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.