Caroli Syndrome: Challenges in Early Diagnosis for Infants

Caroli syndrome is an uncommon disorder characterized by congenital, segmental dilation of the intrahepatic bile ducts, often widespread and accompanied by liver fibrosis, progressing to juvenile portal hypertension. Although present at birth, this congenital anomaly is often undetected until adulthood. The diagnosis is usually delayed due to its clinical latency. In this case, a one-year-and-eight-month-old infant with abdominal distension and hepatosplenomegaly underwent imaging, which revealed segmental dilation of the intrahepatic bile ducts. Early detection allowed for timely management, reducing the risk of severe complications. Early diagnosis of Caroli syndrome in infants is rare but crucial to preventing severe complications such as recurrent cholangitis, liver fibrosis, and portal hypertension. Physicians should maintain a high index of suspicion for Caroli syndrome in cases of persistent abdominal distension, as early recognition can facilitate appropriate imaging, timely intervention, and improved patient outcomes.