Embryonal Biliary Atresia with Levocardia and Situs Inversus: A Case Report

Background: Biliary atresia (BA) is a rare disease and the end result of a destructive inflammatory process in bile ducts, leading to fibrosis and liver cirrhosis. It has two forms: 1) syndromic or fetal or embryonic (10-35%) with various congenital anomalies, 2) non syndromic (70-90%), in which BA is an isolated anomaly. In this article we report on an infant with the first form of BA in which diagnosis and operation was not based on routine liver biopsy but on associated malformations and clinical features that were highly suggestive of embryonal form of biliary atresia.
Case Presentation: A 70-day old infant with syndromic BA, levocardia, situs inversus and polysplenia. He developed jaundice in 4th day of life, liver was not palpable. Kasai operation was not effective. He developed liver cirrhosis at 3 months of age.
Conclusion: Syndromic type of EHBA is a very rare disease with a worse outcome than non syndromic type of BA. Early diagnosis is important and may be difficult as the liver sometimes could not be palpable because of its malposition.