Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA.
Neurocrit Care. 2010 Aug;13(1):113-7. doi: 10.1007/s12028-010-9361-2.
Ornithine transcarbamylase deficiency (OTCD) is the most common of the urea cycle disorders and results in an accumulation of ammonia and its metabolites. Excess ammonia in the brain is metabolized to glutamine, which increases intracellular osmolarity and contributes to cytotoxic edema.
We report a case of a woman heterozygous for OTCD who developed acute hyperammonemic encephalopathy and increased intracranial pressure (ICP).
Despite hemodialysis, protein restriction, and administration of pharmacologic nitrogen scavengers, she developed progressive cerebral edema and increased ICP that was refractory to maximal medical management. She underwent a bifrontal decompressive craniectomy resulting in resolution of her intracranial hypertension.
Aggressive multimodality management of the patient coupled with bifrontal decompressive hemicraniectomy was a life-saving measure, offering the patient a reasonable outcome. At 6 month follow-up she had moderate disability on the Glasgow Outcome Score associated with cognitive difficulties.
鸟氨酸氨甲酰基转移酶缺乏症（OTCD）是最常见的尿素循环障碍之一，导致氨及其代谢物的积累。大脑中过量的氨被代谢为谷氨酰胺，这会增加细胞内渗透压，导致细胞毒性水肿。
我们报告了一例 OTCD 杂合子女性患者，她患有急性高氨血症性脑病和颅内压升高（ICP）。
尽管进行了血液透析、限制蛋白质摄入和给予药物氮清除剂治疗，但她仍出现进行性脑水肿和 ICP 升高，对最大程度的药物治疗无反应。她接受了双侧额部减压性颅骨切除术，从而解决了颅内高压问题。
对患者进行积极的多模式治疗，并结合双侧额部减压性颅骨切除术是一项挽救生命的措施，为患者提供了合理的预后。在 6 个月的随访中，她的格拉斯哥预后评分显示中度残疾，伴有认知困难。
