以双侧内侧颞叶硬化为表现的尿素循环障碍——一种不寻常的癫痫病因：病例报告及文献复习
Urea cycle disorder presenting as bilateral mesial temporal sclerosis - an unusual cause of seizures: a case report and review of the literature.
作者信息
Wang Furene Sijia, Goh Denise Li Meng, Ong Hian Tat
机构信息
Khoo Teck Puat - National University Children's Medical Institute, National University Hospital, Singapore, Singapore.
Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
出版信息
J Med Case Rep. 2018 Jul 15;12(1):208. doi: 10.1186/s13256-018-1750-8.
BACKGROUND
Urea cycle disorders are secondary to defects in the system converting ammonia into urea, causing accumulation of ammonia and other byproducts which are neurotoxic. Ornithine transcarbamylase deficiency is the most common of the urea cycle disorders and frequently presents with coma or seizures during hyperammonemia. However, seizures can also occur without metabolic decompensation.
CASE PRESENTATION
We describe a 23-year-old Chinese woman with urea cycle disorder who presented with confusion due to focal seizures arising from the left frontotemporal region. Interestingly, her ammonia levels remained normal during the seizures. Neuroimaging showed bilateral mesial temporal sclerosis. Her seizures were successfully controlled with two anti-epileptic medications.
CONCLUSIONS
This case adds evidence of the predisposition of the temporal lobe to injury in urea cycle disorder. Urea cycle disorder can lead to mesial temporal sclerosis which leads to increased susceptibility of patients to seizures regardless of their metabolic state.
背景
尿素循环障碍继发于将氨转化为尿素的系统缺陷，导致氨及其他具有神经毒性的副产物蓄积。鸟氨酸转氨甲酰酶缺乏症是最常见的尿素循环障碍，在高氨血症期间常表现为昏迷或癫痫发作。然而，癫痫发作也可在无代谢失代偿的情况下发生。
病例报告
我们描述了一名23岁患有尿素循环障碍的中国女性，她因左侧额颞叶区域局灶性癫痫发作而出现意识模糊。有趣的是，癫痫发作期间她的氨水平保持正常。神经影像学显示双侧内侧颞叶硬化。她的癫痫发作通过两种抗癫痫药物成功得到控制。
结论
该病例为尿素循环障碍时颞叶易受损提供了证据。尿素循环障碍可导致内侧颞叶硬化，从而使患者无论代谢状态如何都更容易发生癫痫发作。
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