Upadhyay Ruby, Bleck Thomas P, Busl Katharina M
Department of Neurological Sciences, Rush University Medical Center, 1725 West Harrison Street, POB Suite 1121, Chicago, IL 60612, USA.
Rush Medical College, Rush University Medical Center, 600 S. Paulina Street, Chicago, IL 60612, USA.
Case Rep Med. 2016;2016:8512721. doi: 10.1155/2016/8512721. Epub 2016 Sep 21.
. A 66-year-old man who presented with coma was found to have isolated severe hyperammonemia and diagnosed with a late-onset urea-cycle disorder. He was treated successfully and had full recovery. . We report a novel case of noncirrhotic hyperammonemia and review the literature on this topic. Selected literature for review included English-language articles concerning hyperammonemia using the search terms "hyperammonemic encephalopathy", "non-cirrhotic encephalopathy", "hepatic encephalopathy", "urea-cycle disorders", "ornithine transcarbamylase (OTC) deficiency", and "fulminant hepatic failure". . A unique case of isolated hyperammonemia diagnosed as late-onset OTC deficiency is presented. Existing evidence about hyperammonemia is organized to address pathophysiology, clinical presentation, diagnosis, and treatment. The case report is discussed in context of the reviewed literature. . Late-onset OTC deficiency presenting with severe hyperammonemic encephalopathy and extensive imaging correlate can be fully reversible if recognized promptly and treated aggressively.
一名66岁昏迷男性被发现患有单纯性严重高氨血症，并被诊断为迟发性尿素循环障碍。他接受了成功治疗并完全康复。我们报告了一例非肝硬化性高氨血症的新病例，并回顾了关于该主题的文献。用于回顾的选定文献包括使用搜索词“高氨血症性脑病”、“非肝硬化性脑病”、“肝性脑病”、“尿素循环障碍”、“鸟氨酸转氨甲酰酶（OTC）缺乏症”和“暴发性肝衰竭”的英文文章。本文介绍了一例被诊断为迟发性OTC缺乏症的单纯性高氨血症的独特病例。整理了关于高氨血症的现有证据，以探讨其病理生理学、临床表现、诊断和治疗。结合回顾的文献对该病例报告进行了讨论。如果能及时识别并积极治疗，迟发性OTC缺乏症伴严重高氨血症性脑病和广泛影像学表现可能完全可逆。
