Congenital absence of the portal vein and role of liver transplantation inchildren

Background/Purpose: Congenital absence of the portal vein (CAPV) is a subty pe of congenital portosystemic shunt, which can cause a broad spectrum of c linical manifestations. The authors report on 4 patients with CAPV includin g a boy with CAPV-associated encephalopathy, which was resolved effectively by liver transplantation (LT). Methods: The case records of 4 pediatric patients with CAPV who were referr ed to the author's institution between 1984 and 1999 were reviewed. Results: The patients (3 boys and 1 girl) ranged in age at diagnosis from 0 .8 to 14 years. Two patients had growth retardation or disturbed consciousn ess, and the other 2 had no specific manifestations. Not only high serum le vels of bile acids, ammonia, and transaminases but also low plasma levels o f branched-chain amino acids were common laboratory findings. The absent po rtal vein was replaced by a large portosystemic shunt, which connected the splanchnic vein to the inferior vena cava or the left renal vein. Two patie nts survived without any symptoms, but 1 with growth retardation died of he patic failure. The other with encephalopathy did not respond to medical the rapy and underwent LT, which resolved symptoms and metabolic disorders effe ctively. Conclusions: Patients with CAPV do not always have a good prognosis. They s hould be followed up with careful observation of their symptoms, hepatic fu nction, and metabolic abnormalities. LT might be indicated for patients wit h symptomatic CAPV unresponsive to medical therapy. Copyright (C) 2001 by W .B. Saunders Company.