Işikay Sedat
Department of Pediatric Neurology, Gaziantep Children's Hospital, Gaziantep, Turkey.
BMJ Case Rep. 2013 Jun 7;2013:bcr2013010164. doi: 10.1136/bcr-2013-010164.
L-2 Hydroxyglutaric aciduria is a rare, progressive, autosomal recessively inherited metabolic disorder of organic acid metabolism. It is characterised by macrocephaly, progressive neurological syndrome with cerebellar features, mental deterioration, typical brain MRI findings and the presence of L-2 hydroxyglutaric acid in urine samples. We report on an 11-year-old patient who presented to the emergency department with a generalised status epilepticus, which was subsequently diagnosed as L-2 hydroxyglutaric aciduria owing to rare and different clinical presentation. Brain MRI showed peripheral white matter abnormalities in cerebral hemispheres, basal ganglia and dentate nuclei, In conclusion, L-2 hydroxyglutaric aciduria should be considered in cases of epileptic seizures such as status epilepticus, cerebellar signs and progressive neurological course.
L-2-羟基戊二酸尿症是一种罕见的、进行性的、常染色体隐性遗传的有机酸代谢紊乱疾病。其特征为巨头畸形、具有小脑特征的进行性神经综合征、智力衰退、典型的脑部磁共振成像表现以及尿液样本中存在L-2-羟基戊二酸。我们报告了一名11岁患者，该患者因全身性癫痫持续状态就诊于急诊科，因其临床表现罕见且不同，随后被诊断为L-2-羟基戊二酸尿症。脑部磁共振成像显示大脑半球、基底神经节和齿状核的外周白质异常。总之，在癫痫发作（如癫痫持续状态）、小脑体征和进行性神经病程的病例中应考虑L-2-羟基戊二酸尿症。
