Introduction: Caroli disease and Caroli syndrome are rare congenital disorders characterized by segmental cystic dilatation of the intrahepatic bile ducts. Caroli syndrome is the more common variant, often diffuse, associated with congenital hepatic fibrosis leading to juvenile portal hypertension and frequently associated with autosomal recessive polycystic kidney disease.

Methods: A 32-year-old patient with no significant medical history presented as an emergency with abdominal pain, petechial purpura of the lower limbs, macroscopic hematuria, and renal failure (creatinine 18 mg/L, creatinine clearance 58 mL/min). Clinical examination revealed hepatosplenomegaly, petechial purpura of the lower limbs, and preserved diuresis with normal blood pressure. Laboratory findings showed isolated peripheral thrombocytopenia, moderate renal failure, cholestasis, and hepatic cytolysis. Abdominal ultrasound with Doppler revealed cystic dilatation of intrahepatic bile ducts, diffuse hepatic fibrosis with portal hypertension, and bilateral renal cortical hyperechogenicity with comet-tail artifacts suggestive of microcysts, confirmed by CT urography. Esophagogastroduodenoscopy revealed grade 1 esophageal varices. The diagnosis of Caroli syndrome was established based on the association of Caroli disease and recessive polycystic kidney disease.

Results: The patient has been regularly followed in our nephrology consultation since 2018. He remains in excellent general condition with stable renal function (creatinine clearance maintained at approximately 58 mL/min). The thrombocytopenia has remained stable without significant progression, and no new episodes of purpura or macroscopic hematuria have occurred. No episodes of cholangitis or hepatic decompensation have been observed during the follow-up period.

Conclusion:

 The incidental discovery of a congenital disease with a nephrological presentation, such as macroscopic hematuria in adulthood, is rare. Caroli syndrome is a rare disease still unrecognized by many nephrologists. This case demonstrates that long-term clinical stability with preserved renal function and stable thrombocytopenia is possible with conservative management and regular follow-up.