Logo American Journal of Case Reports

Call: 1.631.629.4328
Mon-Fri 10 am - 2 pm EST

Contact Us

Logo American Journal of Case Reports Logo American Journal of Case Reports Logo American Journal of Case Reports

08 March 2017 : Case report  Brazil

A Proposed Physiopathological Pathway to Hyperammonemic Encephalopathy in a Non-Cirrhotic Patient with Fibrolamellar Hepatocellular Carcinoma without Ornithine Transcarbamylase (OTC) Mutation

Challenging differential diagnosis, Unusual setting of medical care, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis)

Rodrigo C. Surjan1ABDEF*, Elizabeth S. dos Santos2BE, Tiago Basseres1AB, Fabio F. Makdissi3ADF, Marcel A. Machado1ADEF

DOI: 10.12659/AJCR.901682

Am J Case Rep 2017; 18:234-241

Abstract

BACKGROUND: Hyperammonemic encephalopathy is a potentially fatal condition that may progress to irreversible neuronal damage and is usually associated with liver failure or portosystemic shunting. However, other less common conditions can lead to hyperammonemia in adults, such as fibrolamellar hepatocellular carcinoma. Clinical awareness of hyperammonemic encephalopathy in patients with normal liver function is paramount to timely diagnosis, but understanding the underlying physiopathology is decisive to initiate adequate treatment for complete recovery.

CASE REPORT: A 31-year-old male with fibrolamellar carcinoma and peritoneal carcinomatosis presented with rapid onset hyperammonemic encephalopathy. Despite usual treatment for hepatic encephalopathy, his hyperammonemia was aggravated. A physiopathological pathway to encephalopathy resulting from hepatocellular dysfunction or portosystemic shunting was suspected and proper treatment was initiated, which resulted in complete remission of encephalopathy. Thus, we propose there is a physiopathology path to hyperammonemic encephalopathy in non-cirrhotic patients with fibrolamellar carcinoma independent of ornithine transcarbamylase (OTC) mutation. An ornithine metabolism imbalance resulting from overexpression of Aurora Kinase A as a result of a single, recurrent heterozygous deletion on chromosome 19, common to all fibrolamellar carcinomas, can lead to a c-Myc and ornithine decarboxylase overexpression that results in ornithine transcarboxylase dysfunction with urea cycle disorder and subsequent hyperammonemia.

CONCLUSIONS: The identification of a physiopathological pathway allowed adequate medical treatment and full patient recovery from severe hyperammonemic encephalopathy.

Keywords: Ammonia, Brain Diseases, Metabolic, Liver Neoplasms, Ornithine Carbamoyltransferase Deficiency Disease

Add Comment 0 Comments

969 15

In Press

05 Jun 2023 : Case report  USA

Successful Treatment of Recurrent Colonic Adenocarcinoma with Metastatic Tumor Thrombus in the Superior Mes...

Am J Case Rep In Press; DOI: 10.12659/AJCR.939156  

05 Jun 2023 : Case report  Japan

Delayed Right Ventricular Pacemaker Lead Perforation 9 Years After Implantation

Am J Case Rep In Press; DOI: 10.12659/AJCR.940291  

05 Jun 2023 : Case report  Japan

An 81-Year-Old Man Presenting with Asthenia and Anorexia After an Alcohol-Induced Hypoglycemic Coma and a D...

Am J Case Rep In Press; DOI: 10.12659/AJCR.939840  

02 Jun 2023 : Case report  USA

Single Pterional Burr Hole Coupled with Coagulation of the Middle Meningeal Artery for Management of a Chro...

Am J Case Rep In Press; DOI: 10.12659/AJCR.940045  

Most Viewed Current Articles

06 Dec 2021 : Case report  Brazil

Lipedema Can Be Treated Non-Surgically: A Report of 5 Cases

DOI :10.12659/AJCR.934406

Am J Case Rep 2021; 22:e934406

13 Jul 2022 : Case report  USA

Whistling Scrotum: An Unusual Presentation of Pneumomediastinum in the Setting of an Open Scrotal Wound

DOI :10.12659/AJCR.936441

Am J Case Rep 2022; 23:e936441

07 Dec 2021 : Case report  USA

Edwardsiella tarda: A Classic Presentation of a Rare Fatal Infection, with Possible New Background Risk Fac...

DOI :10.12659/AJCR.934347

Am J Case Rep 2021; 22:e934347

23 Feb 2022 : Case report  USA

Penile Necrosis Associated with Local Intravenous Injection of Cocaine

DOI :10.12659/AJCR.935250

Am J Case Rep 2022; 23:e935250

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923