Neuroimaging in metabolic leukoencephalopathy, L-2-hydroxygl
The present case has been reported in the journal Neurology. A 9-year-old girl presented with insidious onset difficulty in walking, recurrent falls, anxiety, and poor scholastic performance from age 5 years.

Her MRI findings 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 revealed 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.

The characteristic MRI findings in this condition are bilateral symmetrical basal ganglia and dentate nuclei involvement along with subcortical white matter abnormality.