A Rare Case of Caroli's Syndrome

Area of Science:

• Hepatology
• Gastroenterology
• Medical Genetics

Background:

• Caroli's syndrome is a rare autosomal recessive congenital disorder affecting the biliary tree.
• It is characterized by intrahepatic bile duct dilation and hepatic fibrosis.
• Cases are infrequently encountered in clinical practice.

Observation:

• Patients typically present with cholangitis symptoms: abdominal pain and jaundice.
• Some may exhibit signs of chronic liver disease and portal hypertension.
• Rarely, cholangiocarcinoma can develop, presenting with jaundice, weight loss, and abdominal mass or ascites.

Findings:

• This report details a young female diagnosed with Caroli's syndrome.
• She presented with cholangitis, sepsis, and encephalopathy.
• The case highlights the importance of considering rare congenital diseases in patients with common symptoms.

Implications:

• This case underscores the need for comprehensive diagnostic evaluation in patients with seemingly common presentations.
• Recognizing Caroli's syndrome early can prevent complications like cholangiocarcinoma.
• Awareness among clinicians is crucial for timely diagnosis and management of this rare condition.