Eyelid Myoclonia With Absence Seizures in a Child With L-2 Hydroxyglutaric Aciduria: Findings of Magnetic Resonance Imaging

L-2 hydroxyglutaric aciduria is a rare, autosomal recessively inherited metabolic disorder of organic acid metabolism. A 5-year-old boy presented with eyelid myoclonia with absences that proved difficult to control with first-line anticonvulsants. An electroencephalogram produced profoundly abnormal results, with generalized spike-and-wave discharges. The patient became seizure-free with a combination therapy of clonazepam, levetiracetam, and lamotrigine. Magnetic resonance imaging demonstrated subcortical white matter and basal ganglia alterations. Urinary organic acid analysis demonstrated increased excretion of L-2 hydroxyglutaric acid. Although rare, seizures can occur as a presenting sign of slowly progressing organic acidurias, e.g., L-2 hydroxyglutaric aciduria. Both eyelid myoclonia with absences and L-2 hydroxyglutaric aciduria comprise rare disorders. To our knowledge, this case report is the first of L-2 hydroxyglutaric aciduria presenting with symptomatic eyelid myoclonia with absences. (C) 2012 Elsevier Inc. All rights reserved.