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Case Reports
Acute Presentation and Management of the Encephalopathic Child With an Undiagnosed Inborn Error of Metabolism.
- Erin E Bennett, Kevin Hummel, Andrew G Smith, and Nicola Longo.
- University of Utah, Salt Lake City, Utah.
- J Emerg Med. 2019 Jan 1; 56 (1): e5-e8.
BackgroundInborn errors of metabolism (IEM) commonly present in infancy and, less commonly, later in life.Case ReportThis case describes an IEM, specifically, ornithine transcarbamylase deficiency, in a previously healthy 7-year-old boy who presented to an emergency department with vomiting for approximately 24 h prior to admission. The child became progressively encephalopathic while in the emergency department, but an ammonia level was not obtained until several hours after admission. Irreversible brain damage with cerebral edema was already present at time of diagnosis, leading to death. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: This case emphasizes that acute hyperammonemia can rapidly cause irreversible neurological damage and, in the case of a newly encephalopathic pediatric patient, ammonia levels should be evaluated early to facilitate proper diagnostic tests and treatment.Copyright © 2018 Elsevier Inc. All rights reserved.
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