A 28 –year-old Male Presented with Carolis Syndrome with Massive Splenomegaly and Multisystem Involvement

Abstract

Background: Caroli syndrome is a rare congenital condition characterized by the coexistence of Caroli disease (dilatation of the intrahepatic bile ducts) and congenital hepatic fibrosis. This combination frequently leads to non-cirrhotic portal hypertension, though the clinical presentation can vary significantly when multisystem involvement is present.

Case Presentation: A 28-year-old male presented with a three-year history of a progressive abdominal lump, recurrent fever, cough, and significant weight loss. Physical examination revealed moderate anemia and massive splenomegaly (18 cm). Initial laboratory findings confirmed pancytopenia, suggesting hypersplenism. Imaging (HRCT and MRCP) identified multifocal cystic dilatation of the intrahepatic biliary tree and parenchymal changes consistent with congenital hepatic fibrosis. Notably, liver Elastography demonstrated advanced fibrosis (F4), reinforcing the diagnosis of Carolis syndrome. Further investigation revealed significant multisystem involvement, including bilateral nephrocalcinosis, renal calculi, and bronchiectasis.

Diagnosis: The patient was diagnosed with Caroli syndrome complicated by advanced hepatic fibrosis, portal hypertension, and severe secondary hypersplenism, with associated renal and pulmonary manifestations.

Management and Outcome: Treatment focused on addressing recurrent infections and anemia through antibiotics and blood transfusions. To manage the complications of portal hypertension and hypersplenism, the patient was scheduled for a splenectomy and a per-operative liver biopsy to further characterize the degree of fibrosis and guide long-term care.

Conclusion: Caroli syndrome, though rare, should be considered in young adults presenting with massive splenomegaly and portal hypertension. This case highlights that the disease can manifest as a complex multisystem disorder, involving hepatic, renal, and pulmonary systems.

Bangladesh J Medicine 2026; Vol. 37, No. 2(1) Supplementation: 236.