Related Experiment Video
Updated: Jun 16, 2026
Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
MR spectroscopy detects lipid peaks in cerebrotendinous xanthomatosis
E K Embiruçu1, M C G Otaduy, A K Taneja
1Department of Neurology, Clinics Hospital of the University of Sao Paulo, School of Medicine, Sao Paulo, Brazil.
Abstract:
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.
