Extrahepatic Biliary Atresia With Situs Inversus and Ventricular Septal Defect: A Case Report

Biliary atresia is a rare, progressive cholangiopathy of infancy and a leading cause of pediatric liver failure. Syndromic forms associated with laterality defects and congenital heart disease are uncommon and pose diagnostic challenges.

A 3-month-old female infant, born at term via home delivery to a consanguineous couple, presented with persistent jaundice since birth. Examination revealed icterus, anemia, hepatomegaly, and a pansystolic murmur. Laboratory tests showed conjugated hyperbilirubinemia, elevated liver enzymes, and coagulopathy, while infectious, metabolic, and endocrine causes were excluded. Imaging revealed a small gallbladder with a triangular cord sign, biliary obstruction on HIDA scan, and situs inversus. Echocardiography identified a small perimembranous ventricular septal defect. Percutaneous liver biopsy confirmed bile duct proliferation, fibrosis, and cholestasis, consistent with extrahepatic biliary atresia.

Syndromic biliary atresia was diagnosed based on clinical, radiological, and histopathological findings, with associated situs inversus and a congenital heart defect.

The patient received supportive care including vitamin K and nutritional supplementation. Pediatric surgical consultation was obtained; however, in view of advanced fibrosis, the syndromic constellation, and the family's decision to decline operative intervention after counseling, Kasai portoenterostomy was not performed. Liver transplantation was discussed but declined by the family. The infant's condition deteriorated and she died approximately one month after diagnosis from complications of advanced liver disease.

Early recognition of biliary atresia and its syndromic associations is crucial. Delayed presentation and limited access to specialized care can adversely affect outcomes, underscoring the need for timely diagnosis, multidisciplinary evaluation, and family counseling.