A Rare Case of Childhood Malformations, Abernethy Syndrome: Literature Review and Presentation of Two Cases

Abstract

Abernethy syndrome is a rare congenital vascular anomaly. In this condition, blood from the portal system is diverted to the caval system through a portocaval shunt, entirely or partially bypassing the liver. Prevalence figures in the literature range from 1 per 30000 population up to 1 per 50000 population. Abernethy syndrome is classified into 2 types based on the absence (type 1) or presence (type 2) of an intrahepatic portal vein. Abernethy syndrome can manifest with hepatic encephalopathy, pulmonary hypertension, severe osteoporosis, gastrointestinal bleeding, cirrhosis, hepatopulmonary syndrome, and abdominal pain. Hepatocellular carcinoma is a less common presentation. Type 1 Abernethy syndrome is usually treated with a liver transplant, whereas type 2 is addressed by closing the shunt either endovascularly or surgically. Here, we present cases to highlight that surgical shunt ligation is an effective treatment for type 2 Abernethy malformation when the shunt cannot be closed endovascularly.