Department of Radiology, School of Medicine, Gaziantep University, Gaziantep, Turkey.
Pediatr Neurol. 2012 Mar;46(3):195-7. doi: 10.1016/j.pediatrneurol.2012.01.008.
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.
l-2 羟戊二酸尿症是一种罕见的常染色体隐性遗传有机酸代谢紊乱。一名 5 岁男孩出现眼睑肌阵挛伴失神，一线抗癫痫药物难以控制。脑电图结果明显异常，表现为全导棘慢波放电。患者在氯硝西泮、左乙拉西坦和拉莫三嗪联合治疗下无癫痫发作。磁共振成像显示皮质下白质和基底节改变。尿有机酸分析显示 l-2 羟戊二酸排泄增加。虽然罕见，但癫痫发作可作为缓慢进展性有机酸尿症（如 l-2 羟戊二酸尿症）的首发表现。眼睑肌阵挛伴失神和 l-2 羟戊二酸尿症均为罕见疾病。据我们所知，本例是首例以症状性眼睑肌阵挛伴失神起病的 l-2 羟戊二酸尿症。
