A review of domestic and foreign literature on the disease and Caroli syndrome is presented. The review includes a historical background and a modern view on the etiology and pathogenesis of the disease, its place among fibrocystic diseases of the liver. Caroli’s disease is a rare genetic pathology, characterized by a wide clinical and morphological polymorphism from severe variants with fibrosis in the neonatal period to cases with manifestation at a late age. The genetic causes of pathology, in particular, mutations associated with autosomal recessive and autosomal dominant forms of polycystic kidney disease, have been studied. A large number of described mutations and the predominance of complex heterozygotes among patients explains the diversity of clinical forms of pathology. The relationship between the genotype and phenotypic variants of pathology has not been determined. In Caroli’s disease, in addition to cystic changes in the liver and kidneys, damage to other organs and systems, in particular cerebral vessels, can be observed. Extrahepatic and extrarenal symptoms of the disease are described, as well as combinations with various genetic diseases. A clinical case of Caroli syndrome in a child observed by the authors from birth is presented. The disease manifested as congenital cystic transformation of the kidney. Hepatic pathology was detected at the age of 5 years. Subsequently, there was a rapid progression of liver damage with the development of severe complications: cirrhosis of the liver, portal hypertension, edematous syndrome, hepatic encephalopathy. At the age of 11 years, the patient successfully underwent orthotopic liver transplantation. The presented case demonstrates the late detection of hepatic damage, its rapid progression. Despite the presence of severe complications, liver transplantation was a success and the patient is currently in a stable condition compensated for all functions.