Periasamy Vembu, Rudwan Mohd, Yadav Girish, Khan Riyadh A
Department of Neurology, Ibn Sina Hospital, Kuwait.
Med Princ Pract. 2008;17(3):258-61. doi: 10.1159/000117804. Epub 2008 Apr 10.
To report the importance of a rare organic acid metabolic disorder, L-2-hydroxyglutaric aciduria, and its characteristic neuroimaging cerebral white matter abnormalities in a case of epilepsy.
A 19-year-old male presented with an 11-year history consisting of school failures, intellectual deterioration and generalized tonic-clonic convulsions.
Neurological examination showed mental subnormality, mild dysarthria and bilateral pyramidal signs. Computed tomography and magnetic resonance imaging (MRI) of the brain showed characteristic white matter lesions, suggestive of L-2-hydroxyglutaric aciduria. The diagnosis of this disease was confirmed by elevated urinary concentrations of L-2-hydroxyglutaric acid. The epilepsy was partially controlled with antiepileptic drugs.
This report indicates the importance of routine examination of urinary organic acids in children and young adults presenting with chronic encephalopathy and epilepsy with characteristic MRI white matter lesions. L-2-hydroxyglutaric aciduria should be considered as one of the differential diagnoses of epilepsy.
报告一种罕见的有机酸代谢紊乱疾病——L-2-羟基戊二酸尿症的重要性，及其在一例癫痫患者中特征性的神经影像学脑白质异常表现。
一名19岁男性，有11年病史，包括学业成绩不佳、智力衰退和全身性强直阵挛性惊厥。
神经系统检查显示智力低于正常水平、轻度构音障碍和双侧锥体束征。脑部计算机断层扫描和磁共振成像（MRI）显示特征性的白质病变，提示L-2-羟基戊二酸尿症。尿中L-2-羟基戊二酸浓度升高证实了该病的诊断。癫痫通过抗癫痫药物得到部分控制。
本报告指出，对于患有慢性脑病和具有特征性MRI脑白质病变的癫痫儿童和青年，常规检测尿有机酸具有重要意义。L-2-羟基戊二酸尿症应被视为癫痫的鉴别诊断之一。
