Rapid progression of intrapulmonary arteriovenous shunting in polysplenia syndrome associated with biliary atresia.

This report describes a patient with biliary atresia (BA) associated with polysplenia syndrome who showed a rapid progression of intrapulmonary arteriovenous shunting (IPS), resulting in a fatal outcome. Intrauterine ultrasonography at 36 weeks of gestation revealed fetal abnormalities, including situs inversus, absent retrohepatic inferior vena cava, and azygous connection. She was diagnosed postnatally as BA because of persistent acholic stool and neonatal jaundice. She underwent hepatic portoenterostomy at age 158 days. The gallbladder and the hepatic ducts were hypoplastic, and the common bile duct was absent. Magnetic resonance image and operative findings also identified polysplenia and an absent portal trunk. Liver histology showed cirrhotic changes and bile duct proliferation. Postoperatively, she achieved good bile secretion, with gradual decrease of total bilirubin. However, she had repeated febrile episodes, and computerized tomography at age 7 months showed multiple liver cysts. Thereafter, she presented with exertional dyspnea. Contrast-enhanced echocardiography showed IPS with a degree of 2/III at age 8 months and 3/III at 10 months. (99m)Technetium-labeled macroaggregated albumin ((99m)Tc-MAA) scintigraphy revealed a shunt ratio of 25.5% at 9 months and 39.7% at 10 months. Percutaneous transhepatic drainage of the bile cysts was performed without success. Sludged bile was obtained. However, respiratory distress rapidly progressed, and she died at age 11 months. In the present patient, the association of polysplenia syndrome and absent portal vein with BA, as well as liver cirrhosis, seemed to be contributing factors to rapid progression of IPS in early life.