An uncommon paediatric case of primary biliary cirrhosis: A diagnostic challenge

• Author Details:   
• Hardik Shah ^*
• Naiya Bhavsar
• Seema Shah
• Ashok Bhandari
• Mitul Chaudhari

Background: Primary Biliary Cirrhosis (PBC) is a chronic autoimmune disorder that usually affects middle-aged women, and it is typically characterized by the progressive destruction of intrahepatic bile ducts, leading to cholestasis and cirrhosis. The condition is infrequently diagnosed in children, with only a handful of pediatric cases being reported in the literature. This case highlights the rare occurrence of PBC in a 6-year-old child, focusing on the diagnostic approach and treatment strategy.
Case Presentation: A 6-year-old male with symptoms of jaundice, severe itching, and tiredness was diagnosed with primary biliary cirrhosis. Laboratory results showed elevated liver enzymes and the presence of antimitochondrial antibodies (AMA). While a liver biopsy was considered but not performed due to financial constraints, treatment with ursodeoxycholic acid was initiated. The patient demonstrated significant clinical improvement, including normalization of liver function tests and reduction in symptoms over the following six months.
Conclusion: Although PBC is mostly seen in adults, it can rarely present in the pediatric population. This case reinforces the importance of considering autoimmune liver diseases, such as PBC, in children who present with unexplained jaundice and pruritus. Timely initiation of treatment, like ursodeoxycholic acid, can improve prognosis and quality of life in affected patients.

Keywords:  Primary Biliary Cirrhosis, Pediatric Liver Disease, Autoimmune Hepatitis, Ursodeoxycholic Acid, Jaundice, Pruritus, Case report