Caroli’s disease was first described by a French physician Dr. Jacques Caroli in 1958. Caroli’s disease and Caroli’s syndrome are rare and have an incidence of less than one per 100,000 population. The incidence of autosomal recessive polycystic kidney disease (ARPKD)/congenital hepatic fibrosis is approximately 1:20,000 live births [1, 2]. Men are affected less as compared to females with an estimated male to female ratio of 1:1.8. These conditions are usually diagnosed in first two decades of life; however, individuals may remain asymptomatic [3, 4]. It is an autosomal recessive disease and is recognized in two forms: Simple form or Caroli’s disease and Caroli’s syndrome when associated with congenital hepatic fibrosis. These patients are at an increased risk for developing cirrhosis of liver with portal hypertension.

Caroli’s disease is sporadic, whereas Caroli’s syndrome is generally inherited in an autosomal recessive [5]. Caroli’s disease may be diffuse or focal. The focal form may be segmental or lobar. Caroli’s disease belongs to a group of hepatic fibro polycystic diseases [6, 7]. A genetic cause is postulated, due to its association with ARPKD. Mutations in PKHD1 gene on chromosome 6p21, which is the gene linked to ARPKD, have been identified in patients with Caroli’s syndrome also.

Cholangiociliopathies in a rat model appears to be associated with decreased intracellular calcium and increased cyclic AMP (cAMP) levels, causing hyperproliferation of cholangiocytes, abnormal cellular matrix interactions, and deranged fluid secretion, which result in biliary dilatation [7]. In Caroli’s disease, hepatic impairment is restricted to formation of cysts and usually presents with right hypochondrium pain, obstructive jaundice, and cholangitis. However, Caroli’s syndrome cystic disease coexists with congenital hepatic fibrosis. These patients clinically manifest features of hepatic insufficiency and portal hypertension and usually present with splenomegaly, ascites, edema, coagulation disorders, and esophageal varices [8, 9].