The MRI findings in 7 patients with L-2-Hydroxyglutaric aciduria (L-2-OHG aciduria) are described and compared with previous neuroradiological reports and the only three published pathological cases. Signal abnormalities involved peripheral subcortical while matter, basal ganglia and dentate nuclei. Cerebellar atrophy was present. Although similar appearances may be seen in other metabolic disorders, the distribution of signal abnormalities in L-2-OHG aciduria is highly characteristic and may suggest the correct diagnosis.
- Brain, magnetic resonance imaging
- L-2-Hydroxyglutaric aciduria
ASJC Scopus subject areas
- Radiology Nuclear Medicine and imaging
- Clinical Neurology
- Radiological and Ultrasound Technology