L-2 Hydroxyglutaric Aciduria Magnetization Transfer Contrast and Diffusion Weighted Magnetic Resonance Imaging Findings. A case Report

We describe the case of a 13-year-old male with ù aciduria. Conventional magnetic resonance imaging and diffusion weighted imaging disclosed some previously unreported findings. In particular, we observed an almost total sparing of early myelinated regions, and a restricted diffusion pattern in the dentate nuclei. Magnetization transfer contrast showed a normal range of values in early myelinated regions, and revealed abnormal values in the subcortical temporal white matter, internal capsule and globi palladi.