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Magnetic resonance imaging and proton MR spectroscopy of the brain in a patient with carbohydrate‐deficient glycoprotein syndrome type I
Author(s) -
Takeuchi Mayumi,
Harada Masafumi,
Hisaoka Sonoka,
Nishitani Hiromu,
Mori Kenji,
Sakama Minoru
Publication year - 2003
Publication title -
journal of magnetic resonance imaging
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.563
H-Index - 160
eISSN - 1522-2586
pISSN - 1053-1807
DOI - 10.1002/jmri.10299
Subject(s) - cerebellum , gliosis , glutamine , magnetic resonance imaging , brainstem , nuclear magnetic resonance , pathology , atrophy , medicine , glutamate receptor , proton magnetic resonance , chemistry , biochemistry , radiology , amino acid , receptor , physics
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. J. Magn. Reson. Imaging 2003;17:722–725. © 2003 Wiley‐Liss, Inc.