Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report
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منابع مشابه
Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report
INTRODUCTION Unexplained hyperammonemic coma in adults can be a medical dilemma in the absence of triggering factors and known comorbidities. Ornithine transcarbamylase deficiency presents most commonly with hyperammonemic coma. Although a rare disorder, ornithine transcarbamylase deficiency is the most common of the urea cycle disorders, which can occur both in children, and less commonly, in ...
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In this case report we describe a 67-year-old male, admitted to the ICU with pneumonia who unexpectedly developed a fatal coma due to hyperammonaemia. At postmortem the diagnosis late-onset ornithine transcarbamylase deficiency was made. The non-specific clinical presentation, the rapid deterioration and incidentally the fatal outcome all underline the importance of recognition and knowledge of...
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ژورنال
عنوان ژورنال: Journal of Medical Case Reports
سال: 2015
ISSN: 1752-1947
DOI: 10.1186/s13256-015-0741-2