Biliary Atresia Splenic Malformation Syndrome: A Narrative Review of Clinical Spectrum, Pathogenesis, Diagnosis and Contemporary Management Strategies

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Biliary Atresia (BA) is a rare progressive type of neonatal cholangiopathy characterised by obliteration of extrahepatic bile ducts, resulting in cholestasis, fibrosis, and potentially liver failure. A distinct subset, known as BA Splenic Malformation (BASM) syndrome, is characterised by BA associated with splenic anomalies, most commonly polysplenia or asplenia, along with laterality defects, vascular abnormalities, and congenital cardiac malformations. BASM is said to likely arise from early embryogenic disturbances in left-right organ patterning rather than postnatal bile duct injury. Clinically, affected infants present with persistent neonatal jaundice, acholic stools, hepatomegaly, along with cholestatic laboratory profiles which are similar to isolated BA, but imaging and intraoperative findings show hallmark syndromic features. Diagnosis of BASM requires a combination of ultrasonography, hepatobiliary scintigraphy, intraoperative cholangiography, as well as comprehensive evaluation of associated anomalies. Kasai portoenterostomy remains a mainstay of management, often complicated by abnormal anatomy. Liver transplantation is indicated in BASM cases having failed drainage and progressive liver disease. Native liver survival and transplant-free survival are usually lower compared to isolated BA due to associated congenital anomalies and complex surgical anatomy. Emerging diagnostic biomarkers, machine-learning algorithms, and regenerative therapies play important roles in earlier detection and improved outcomes. Multidisciplinary evaluation and long-term follow-up are essential in such patients. Understanding developmental, genetic, and clinical aspects of BASM can help with timely intervention, optimisation of surgical planning, and guide research into mechanism-based and precision management strategies for better outcomes.