Fibrolamellar Hepatocellular Carcinoma Mimicking Ornithine Transcarbamylase Deficiency

Abstract

We report an unusual case of recurrent non-hepatic hyperammonaemic encephalopathy in an adult patient. She had a previous history of treated fibrolamellar hepatocellular carcinoma (FLC). This posed a diagnostic challenge, as she had normal liver function tests and normal looking liver on imaging but with extra hepatic metastases. This case highlights the importance of measuring plasma ammonia levels in all patients presenting with unexplained acute confusion. Clinical awareness of non-hepatic hyperammonaemic encephalopathy can contribute to early diagnosis and timely initiation of life-saving treatment. Delay in treatment results in irreversible brain damage, deep coma and death. Treatment of hyperammonaemia must begin prior to confirmation of aetiology, for a favourable outcome. This case also highlights the need for further research to understand the exact mechanism of hyperammonaemia in hepatocellular carcinoma.

Competing interests: None declared

Appendices

Synopsis

Patients with unexplained encephalopathy should also be investigated for hyperammonaemia for early initiation of potentially life-saving treatment.

Details of the Contributions of Individual Authors

Dr R A Sulaiman did the planning, literature search, and wrote the manuscript of this case report.

Dr T G Hiwot reviewed and edited the manuscript.

Guarantor of this article: Dr T G Hiwot

Compliance with Ethics Guidelines

Conflict of Interest

R A Sulaiman and T G Hiwot declare that they have no conflict of interest.

Informed Consent

Patient had signed an informed consent form, giving permission for the publication of this case report. This will be available on request.

Animal Rights

This report does not contain any study with human or animal subjects performed by any of the authors.