Question

A 3-month-old baby presents with jaundice and clay-coloured stools. Lab investigation reveals that the baby has conjugated hyperbilirubinemia. The liver biopsy shows periductal proliferation. What is the most likely diagnosis?

• A. Crigler-Najjar syndrome
• B. Rotor syndrome
• C. Dubin-Johnson syndrome
• D. Biliary atresia

Answer 1

The Correct Option is D

Biliary atresia is the most likely diagnosis given the symptoms and lab results presented by the 3-month-old baby. Here's how we can conclude this:

• Jaundice: The presence of jaundice in a 3-month-old indicates a problem with bilirubin metabolism or bile excretion.
• Clay-colored stools: This is a classic sign of biliary obstruction, as it indicates a lack of bile pigment in the intestines.
• Conjugated hyperbilirubinemia: Elevated levels of conjugated (direct) bilirubin suggest a post-hepatic cause of jaundice, often due to an obstruction in the biliary system.
• Liver biopsy showing periductal proliferation: This indicates an active process in the bile ducts often associated with conditions like biliary atresia, where there is fibrosis and proliferation around the bile ducts.

Considering these findings, the most plausible diagnosis is biliary atresia, a condition characterized by the obliteration or discontinuity of the extrahepatic bile ducts, leading to bile accumulation and liver damage. The other options do not fit as well:

• Crigler-Najjar syndrome: Involves unconjugated hyperbilirubinemia, not conjugated.
• Rotor syndrome and Dubin-Johnson syndrome: Both involve conjugated hyperbilirubinemia, but they do not typically present with clay-colored stools or the histological findings described.