MR spectroscopy detects lipid peaks in cerebrotendinous xanthomatosis.
CTX is a rare lipid-storage disease. Novel MRS findings from 3 patients, using a short TE, were the presence of lipid peaks at 0.9 and 1.3 ppm in the depth of the cerebellar hemisphere; this might represent an additional marker of disease that is CNS-specific and noninvasive. A decrease in NAA concentration was also detected and attributed to neuroaxonal damage. One patient presented an increase in mIns concentration, pointing to gliosis and astrocytic proliferation.
Department of Neurology, Clinics Hospital of the University of Sao Paulo, School of Medicine, Sao Paulo, Brazil.
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Embiruçu
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Otaduy
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Taneja
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Leite
Fernando
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Kok
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Lucato
D000328:Adult; D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000378:metabolism; D002531:Cerebellum / Q000378:metabolism / Q000473:pathology; D002794:Choline / Q000378:metabolism; D006801:Humans; D007294:Inositol / Q000378:metabolism; D019344:Lactic Acid / Q000378:metabolism; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged; D019294:Xanthomatosis, Cerebrotendinous / Q000378:metabolism* / Q000473:pathology*; D055815:Young Adult
D001224:Aspartic Acid; D019344:Lactic Acid; D007294:Inositol; C000179:N-acetylaspartate; D002794:Choline