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Journal of Medical Case Reports
Published in: Journal of Medical Case Reports 1/2018

Open Access 01-12-2018 | Case report

Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report

Authors: Thomas Silfverberg, Fredrik Sahlander, Magnus Enlund, Mikael Oscarson, Maria Hårdstedt

Published in: Journal of Medical Case Reports | Issue 1/2018

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Abstract

Background

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a rare inherited urea cycle disorder, can remain undiagnosed for decades and suddenly turn into an acute life-threatening state. Adult presentation of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome has rarely been described, but is potentially underdiagnosed in the emergency room. In the case of acute hyperammonemia, prompt diagnosis is essential to minimize the risk of brain damage and death.

Case presentation

We present the diagnostics, clinical course, and treatment of a 48-year-old Caucasian man presenting with unexplained unconsciousness in the emergency room. A web search by a family member led to the suspicion of urea cycle disorder. Subsequent analysis of plasma ammonia and amino acids in plasma and urine demonstrated a pattern typical for hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. The diagnosis was confirmed by genetic analysis which revealed two heterozygous mutations in the SLC25A15 gene. The cause of the hyperammonemia crisis was acute upper gastrointestinal hemorrhage, leading to protein overload and subsequent cerebral edema. Continuous renal replacement therapy, scavenger treatment, and tightly controlled nutrition were useful in preventing hyperammonemia and recurrence of cerebral edema.

Conclusions

The case emphasizes the importance of taking rare metabolic genetic disorders into consideration in patients with prolonged unexplained unconsciousness.
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Metadata
Title
Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report
Authors
Thomas Silfverberg
Fredrik Sahlander
Magnus Enlund
Mikael Oscarson
Maria Hårdstedt
Publication date
01-12-2018
Publisher
BioMed Central
Published in
Journal of Medical Case Reports / Issue 1/2018
Electronic ISSN: 1752-1947
DOI
https://doi.org/10.1186/s13256-018-1794-9

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