Primary Sclerosing Cholangitis in a Child: A Rare Case Report

Primary sclerosing cholangitis (PSC) is a chronic inflammation of the bile ducts that leads to progressive narrowing, ultimately resulting in liver cirrhosis. A 10-year-old boy presented with jaundice, abdominal pain, nausea, weight loss, and yellow papules and nodules on the eyelids, elbows, and axillae. A physical examination revealed jaundice, pallor, and hepatosplenomegaly. The laboratory results revealed anemia, cholestasis, and elevated liver enzymes, along with hypoalbuminemia. The tests for viral hepatitis and autoimmune markers were negative. Abdominal ultrasonography revealed increased hepatic parenchymal echogenicity, dilatation of the extrahepatic bile ducts, ascites, splenomegaly, and proximal common bile duct enlargement with a contracted gallbladder. Magnetic resonance cholangiopancreatography showed the features consistent with PSC and early cirrhosis. Endoscopy revealed grade 3 esophageal varices. A liver biopsy showed cholestatic obstructive disease with portal and periportal fibrosis. The final diagnosis was PSC with xanthomatosis, complicated by hepatic cirrhosis and portal hypertension. Supportive therapy remains essential, particularly in regions with limited access to liver transplantation. An early diagnosis of PSC in children continues to be a major challenge.