LAUSR

L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive neurometabolic disorder that is characterized by cerebellar ataxia, intellectual decline, leukoencephalopathy, and elevation of L-2-hydroxyglutaric acid in urine, plasma and cerebrospinal fluid. The diagnosis is based on magnetic resonance imaging (MRI) or computed tomography findings, biochemical testing, and mutational analysis of the L2HGDH gene. A consistent pattern of signal intensity abnormalities of the subcortical cerebral white matter, lentiform nucleus, caudate and dentate nucleus has been described. The disorder appears to be pan-ethnic with fewer cases reported worldwide to date. We present a case of a 28-year-old woman presenting with chronic progressive pancerebellar syndrome with pyramidal tract involvement and cognitive impairment. She was diagnosed with L2HGA with novel mutant variants of the L2HGDH gene.