L-2 Hydroxyglutaric Aciduria: Proton Magnetic Resonance Spectroscopy and Diffusion Magnetic Resonance Imaging Findings
Articles > Article ยท 2003
Authors: R. Nuri Sener
Journal of Computer Assisted Tomography, International, WoS, 2003, vol 27, pp 38-43
DOI: 10.1097/00004728-200301000-00008
Summary
A 10-month-old boy was reported with the diagnosis of L-2 hydroxyglutaric aciduria. Amino acid chromatographic analysis revealed an 80-fold increase of hydroxyglutaric acid in the urine. Proton magnetic resonance (MR) spectroscopy of the brain obtained with the hybrid chemical shift imaging sequence (repetition time = 1,500 milliseconds, echo time = 40 milliseconds) revealed prominent peaks resonating at 2.50 ppm, which were attributable to L-2 hydroxyglutaric acid. Diffusion MR imaging was obtained using the echo-planar trace sequence (repetition time = 5,700 milliseconds, echo time = 139 milliseconds). Two different diffusion patterns were evident: a restricted diffusion pattern in the globi pallidi and an increased diffusion pattern in the white matter.