Abstract
SUMMARY: 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.
Abbreviations
- a.u.
- arbitrary unit
- Cho
- choline-containing compounds
- CNS
- central nervous system
- Cr
- creatine/phosphocreatine
- CTX
- cerebrotendinous xanthomatosis
- Lip
- lipid
- Lip09
- lipid signals at 0.9 ppm
- Lip13
- lipid signals at 1.3 ppm
- mIns
- myo-inositol
- MRS
- MR spectroscopy
- NAA
- N-acetylaspartate
- PRESS
- point-resolved spectroscopy sequence
- STEAM
- short echo time stimulated echo acquisition mode
- VOI
- volume of interest
- Copyright © American Society of Neuroradiology
