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.
Embiruçu
E K
EK
Department of Neurology, Clinics Hospital of the University of Sao Paulo, School of Medicine, Sao Paulo, Brazil.
Otaduy
M C G
MC
Taneja
A K
AK
Leite
C C
CC
Kok
Fernando
F
Lucato
L T
LT
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