Acute Hyperammonemic Encephalopathy in a Non-Cirrhotic Patient With Hepatocellular Carcinoma Reversed by Arginine Therapy

Acquired ornithine transcarbamylase deficiency in pediatric and adolescent patients with fibrolamellar hepatocellular carcinoma

“…4,17 Historically, the association between aOTCD and FL-HCC has been reported in adult patients only. [5][6][7][8][9][10][11][12][13] Presentation of aOTCD is variable and can include altered mental status, fatigue, personality changes, emesis, diarrhea, motor retardation, posturing, and asterixis, 8,10,12,13 associated with elevated serum ammonia, typically >150 mol/L.…”

“…Aside from FL-HCC, idiopathic hyperammonemia has been described in HCC and hepatoblastoma, as well as in hematologic malignancies including acute myeloblastic leukemia, multiple myeloma, and chronic myelocytic leukemia. 6,7,[9][10][11][12][13]18 The pathophysiology behind this presumed paraneoplastic phenomenon remains uncertain.…”

“…It has been speculated that aOTCD is due to chemotherapy inducing a catabolic state that overwhelms a patient's ability to clear nitrogenous waste, 6 with alkylating agents, antimetabolites, topoisomerase inhibitors, anthracyclines, and immunotherapy as potential precipitating agents. 7,11 However, cases of aOTCD have occurred without chemotherapy exposure. 13 Alternative hypotheses relating aOTCD with FL-HCC involve tumor cell secretion of an inhibitor of ornithine transcarbamylase, though this has not yet been proven.…”

“…In adults with FL‐HCC, a possible paraneoplastic phenomenon known as acquired ornithine transcarbamylase deficiency (aOTCD), a toxic accumulation of ammonia in the blood causing acute encephalopathy and potentially irreversible neurologic deficits, or death, has been reported . We report two cases of aOTCD in pediatric patients with FL‐HCC (Table ).…”

Hyperammonemic Encephalopathy Associated With Fibrolamellar Hepatocellular Carcinoma: Case Report, Literature Review, and Proposed Treatment Algorithm

“…Initially described 30 years ago, chemotherapy-related HAE has been reported mostly in patients with hematologic malignancies undergoing intensive cytoreductive treatment or bone marrow transplantation [14][15][16]. Several case reports and small case series described development of HAE in patients treated with a variety of agents, including conventional cytotoxics, such as 5-fluorouracil, L-asparaginase, cytarabine, cyclophosphamide, oxaliplatin, vincristine, ©AlphaMed Press 2016…”