Teaching NeuroImages: Imaging in metabolic leukoencephalopathy, L-2-hydroxyglutaric aciduria

Abstract

A 9-year-old girl presented to us with insidious onset difficulty in walking, recurrent falls, anxiety, and poor scholastic performance from age 5 years. Her MRI findings (figure) were classic of L-2-hydroxyglutaric aciduria (L2-HGA). However, similar findings are also seen in Leigh syndrome, 3-hydroxy-3-methylglutaric aciduria, and succinic semialdehyde dehydrogenase deficiency. Urine analysis showed elevated levels of L-2-hydroxyglutaric acid, which confirmed the diagnosis. L2-HGA is a rare autosomal recessive metabolic disorder due to deficiency of L-2-hydroxyglutarate dehydrogenase. 1 The characteristic MRI findings in this condition are