Contribution of brain MRI in a patient diagnosed with 2-hydroxyglutaric aciduria

L-2-Hydroxyglutaric aciduria is a rare autosomal recessively inherited metabolic disorder of organic acid metabolism. Clinical findings are characterised by progressive neurological syndrome with cerebellar signs, mental deterioration and macrocephaly. Diagnosis is via increased levels of L-2 hydroxyglutaric acid in urine, plasma and cerebrospinal fluid. Brain magnetic resonance imaging (MRI) shows peripheral white matter abnormalities in cerebral hemispheres, basal ganglia and dentate nuclei. In this report, we present an rare 8-year-old patient with a rare mental retardation, cerebellar findings, macrocephaly and typical brain MRI findings, who was subsequently diagnosed with L-2-hydroxyglutaric aciduria. In conclusion, in patients with progressive mental retardation, macrocephaly and cerebral findings, L-2-hydroxyglutaric aciduria should be considered in case of deep white matter and dentate nuclei involvement in MRI.