Cholangitis resembling Caroli's syndrome in a patient with autosomal dominant polycystic kidney disease: Case report.

Caroli's syndrome is a rare autosomal recessive disorder characterized by segmental cystic dilation of the intrahepatic bile ducts and congenital hepatic fibrosis. It is associated with autosomal recessive polycystic kidney disease. Here, we report a 63-year-old male known with polycystic kidney disease, who was admitted to our hospital with intermittent fever, accompanied by weight loss. Magnetic resonance cholangiopancreatography suggested the presence of Caroli's syndrome, characterized by cystic dilation of the intrahepatic proximal bile ducts on both the right and left lobes of the liver. Shear wave elastography revealed the presence of mild liver fibrosis. The patient recovered with broad-spectrum antibiotics. Genetic testing found no evidence of variation in the PKHD1 gene. However, a heterozygous deletion of the PKD1 gene was identified, a deletion that has not previously been linked to disease, and therefore the patient's family was offered genetic analysis. The patient has since remained free of cholangitis and icterus and continues to be followed in the nephrology department.