Caroli's disease associated with infantile polycystic kidney disease. Prenatal sonographic appearance.

Clinical classification of Caroli's disease: an analysis of 30 patients

“…Caroli's disease is a rare, autosomally recessive inherited congenital disorder associated with an incomplete and faulty remodelling of the embryonic ductal plate . It is usually diagnosed during childhood or adolescence, but may be diagnosed in adulthood . Patients who present with symptoms of CD before the age of 40 years are more likely to have type II than type I CD.…”

Developmental abnormalities and liver disease in childhood

“…3.39). Caroli disease is frequently associated with congenital hepatic fibrosis (in which case it is termed Caroli syndrome), rarely with infantile polycystic disease (ARPKD) 576 and even adult polycystic disease (ADPKD). 577 According to Desmet, 488 the pathogenesis of Caroli disease seems to involve total or partial arrest of remodelling of the ductal plate of the larger intrahepatic bile ducts.…”

Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis

“…It is thus unclear if all cases of Caroli's disease are allelic to ARPKD (OMIM# 263200). A review of the literature revealed two cases of prenatally diagnosed Caroli's disease3, 6. We present the third case of prenatally diagnosed Caroli's disease, along with postnatal confirmation and genetic analysis showing that Caroli's disease and ARPKD were allelic in this case.…”

“…Caroli's disease is a rare congenital disorder characterized by cystic dilatation of the intrahepatic bile ducts1. It has been reported in adults, adolescents and children1–3, with clinical manifestations including recurrent cholangitis, jaundice and cirrhosis, as well as renal impairment in children with associated polycystic renal disease1, 2. In most cases it affects the entire liver but occasionally it involves only one lobe, most commonly the left1, 4.…”

“…In most cases it affects the entire liver but occasionally it involves only one lobe, most commonly the left1, 4. The hepatic involvement can be isolated or associated with a genetic disorder, in most cases autosomal recessive polycystic kidney disease (ARPKD)1, 3. However, association with autosomal dominant polycystic kidney disease has also been reported5.…”