DISTINCT CLINICOPATHOLOGICAL PHENOTYPES IN PEDIATRIC CHOLESTATIC LIVER DISEASE: A FOUR-CASE SERIES

Abstract

Pediatric cholestatic liver diseases show considerable heterogeneity in presentation and progression. We describe four children illustrating distinct clinicopathological phenotypes. A 6-year-old child with congenital hepatic fibrosis presented with massive splenomegaly, thrombocytopenia, and large esophageal varices requiring endoscopic ligation. An 11-year old girl had biopsy-confirmed cirrhosis, severe fibrosis, and hypersplenism despite absence of gastroesophageal varices at initial endoscopy. A 3-year-old child with neonatal-onset conjugated hyperbilirubinemia had surgically and histologically confirmed extrahepatic biliary atresia with advanced biliary cirrhosis. A 15-month-old child presented with early hepatic decompensation, refractory ascites, intrahepatic ductal abnormalities, and culture-proven spontaneous bacterial peritonitis due to Klebsiella pneumoniae. These cases demonstrate that different cholestatic disorders may converge toward fibrosis, portal hypertension, and hepatic decompensation while retaining distinct phenotypic features. Multimodal assessment and longitudinal surveillance are important because individual manifestations may not reliably indicate overall disease severity.