Non-Syndromic Paucity of Interlobular Bile Ducts (NSPIBD) Presenting as Neonatal Cholestasis in an Infant With Down...

Non-syndromic paucity of interlobular bile ducts (NSPIBD) is a rare cause of neonatal cholestasis, often presenting with clinical features similar to extrahepatic biliary atresia. This report presents a case of NSPIBD in an infant with Down syndrome who exhibited jaundice and pale stools. Ultrasonographic findings and an inconclusive cholangiogram raised concern for BA, yet liver histology demonstrated preserved bile flow and bile duct paucity without ductular proliferation or portal fibrosis. This highlights the necessity of a multimodal diagnostic approach, integrating clinical course, biochemistry, imaging, and histology, particularly when findings are discordant. Management was primarily supportive, focusing on cholestasis treatment, and the prognosis remains variable. Therefore, NSPIBD should be recognized as a significant differential diagnosis of cholestasis in infants with Down syndrome, and early diagnosis is essential to avoid unnecessary surgical intervention.