L-2 Hydroxyglutaric Aciduria and Anaplastic Oligodendroglioma: a Rare Association

Abstract

L-2 hydroxyglutaric aciduria (L2HGA) is an inherited neurometabolic disease characterized by elevated levels of L-2 hydroxyglutaric acid in urine, plasma, and cerebrospinal fluid. The disease has a progres-sive clinical course presenting with ataxia, seizure, and psychomotor retardation. Magnetic resonance imaging (MRI) is helpful to make the diagnosis by providing specific findings, such as subcortical white mat-ter, symmetrical globi pallidi, and dentate nuclei hyperintensities, on T2-weighted images. Another important role of MRI is to detect associ-ated intracranial malignancies in patients with L2HGA. The association between L2HGA and cerebral neoplasms has not been clearly elucida-ted to date; however, a few cases reports in the literature support this association. We report a patient with L2HGA associated with anaplastic oligodendroglioma and review the relevant literature.