Lung John, Sathappan Sunil, Sabir Isra, Maier Richard
Internal Medicine, University of Nevada Reno School of Medicine, Reno, USA.
Critical Care Medicine, Renown Health, Reno, USA.
Cureus. 2022 Jul 8;14(7):e26667. doi: 10.7759/cureus.26667. eCollection 2022 Jul.
Acute encephalopathy with an unclear etiology is a common presentation to the hospital. We describe the case of a 50-year-old male who presented with a one-day history of slurred speech, nausea, insomnia, and altered mental status. His surgical history was notable for a strabismus surgery two days ago. He presented with elevated ammonia levels that continued to increase. Metabolic studies were suggestive of hyperammonemia secondary to ornithine transcarbamylase (OTC) deficiency triggered due to fasting prior to the strabismus surgery. OTC gene sequencing confirmed the diagnosis of OTC deficiency. We summarize the current case reports in the literature and review the treatment options for OTC deficiency. Our case occurred after a low-risk outpatient strabismus surgery and is a good example of maintaining a broad differential and revising the suspected diagnosis constantly.
病因不明的急性脑病是医院常见的病症表现。我们描述了一名50岁男性的病例，他出现了言语含糊、恶心、失眠和精神状态改变等症状，病史为一天。他的手术史值得注意的是两天前进行了斜视手术。他就诊时血氨水平升高且持续上升。代谢研究提示，斜视手术前禁食引发鸟氨酸转氨甲酰酶（OTC）缺乏继发高氨血症。OTC基因测序确诊为OTC缺乏。我们总结了文献中目前的病例报告，并回顾了OTC缺乏的治疗选择。我们的病例发生在低风险的门诊斜视手术后，是保持广泛鉴别诊断并不断修正疑似诊断的一个很好的例子。
