Hepatoblastoma with Congenital Absence of the Portal Vein - A Case Report

Abstract

A 17-month-old girl who had been followed up as an extremely-low-birth-weight infant presented with hepatoblastoma in the right lobe of her liver. Preoperative angiography revealed an absence of the portal vein, and the visceral venous return was through the left renal vein into the inferior vena cava. No liver dysfunction and no jaundice were found; however, a marked elevation of the alpha-fetoprotein level was noted. She underwent a typical right hepatic lobectomy successfully after chemotherapy and has no evidence of recurrence 6 months after surgery.

Clinical and Radiologic Manifestations of Congenital Extrahepatic Portosystemic Shunts: A Comprehensive Review

“…Malignant transformation of regenerative nodules is unusual but has been reported in association with CEPS (9,(32)(33)(34)(35). It is sometimes difficult to differentiate these lesions from benign hepatic nodules.…”

Clinical classification of congenital extrahepatic portosystemic shunts

“…The liver tumors in the CEPS patients were mostly benign (46/55 83.6%). Three patients had hepatocellular carcinoma 7,13,35 (although the hepatitis‐B core antigen was present in normal liver cells in the resection margin of the resected specimen in one case), and six patients had hepatoblastoma 5,6,30,37 . Biliary atresia was observed in seven patients, 9,11,37 and congenital hepatofibrosis was observed in one patient.…”

“…WE SEARCHED FOR cases of CEPS in English and Japanese medical literature published between 1793 and 2009 using the key words “shunt”, “portosystemic shunt”, “congenital portosystemic shunt”, “splenorenal shunt”, “portocaval shunt”, and “congenital absence of portal vein” using Medline for international literature and Ichushi for Japanese literature 1–38 . We excluded case reports on portosystemic shunts with portal trunk (ductus venosus failed to close), secondary portal vein obstruction with liver disease (liver cirrhosis, hepatocellular carcinoma, et cetera), extra portal vein obstruction (EHPVO), and other obvious causes (trauma, infection, hypercoagulable and prothrombotic state) after birth and in those cases where the patient's profile was not described in detail.…”

“…The number of reported cases has gradually been increasing as a result of technological advances in radiological modalities, fetal diagnosis, and neonatal mass screening. To our knowledge, only 136 cases have been reported in English and Japanese medical literature 1–38 . CEPS can be anatomically classified into two groups 1,5,9 .…”

Frequency of the UGT1A1*28 polymorphism in a Romanian cohort of Gilbert syndrome individuals

“…Because over half of the people in the general population have at least one abnormal copy of the gene, inheriting two abnormal copies is quite common. People who have only one copy may have slightly higher levels of unconjugated bilirubin but not GS [9][10][11][12].…”