L-2 Hydroxyglutaric aciduria is a rare metabolic disorder which is autosomal recessive in inheritance. It is characterised by the increased urinary excretion of L-2 hydroxyglutaric acid and the diagnosis is based on the increased levels of the L-2 hydroxy glutaric acid in the urine, serum & CSF. This is a neurometabolic disorder which is associated with slowly progressive psychomotor delay since childhood. We report a case of an 18 –year old female who presented at the emergency department with seizures, fever and on imaging show classic features.


中文翻译：

---

L-2-羟基戊二酸尿症在年轻成年人中表现为发烧相关的经典影像学特征。


L-2羟戊二酸尿症是一种罕见的代谢疾病，在遗传中常染色体隐性遗传。它的特征是L-2羟基戊二酸的尿排泄增加，并且诊断是基于尿液，血清和CSF中L-2羟基戊二酸的增加。这是一种神经代谢紊乱，与儿童时期以来缓慢进行的精神运动延迟有关。我们报告了一例18岁的女性，她在急诊室出现癫痫发作，发烧并在影像学上表现出典型特征。