Caroli's disease is defined as congenital non-obstructive dilation of intrahepatic bile ducts.

It is considered by some experts as part of the spectrum of fibropolycystic liver diseases, due to its association with fibrocystic kidney diseases. Some authors also want to classify it as type-V under Todani's classification of choledochal cysts, due to anatomic and physiologic similarity.

Being a congenital entity with possible genetic relations, the disease usually presents in the 2nd or 3rd decade of life or even earlier, like the present case. The patient may present with the classic triad of abdominal pain, right hypochondriac mass and jaundice, or with a combination of related symptoms. Hepatic markers (bilirubin, ALT, alk phosphatase) may be normal or only slightly altered.

Ultrasonography is often the first imaging that provides direct clue to the diagnosis, since it clearly demonstrates the dilation of intrahepatic biliary channels, often with central dot sign. MRCP provides the additional benefit of detecting extra-luminal findings or to identify obstructed ducts. CT or MRI with contrast may be used to identify developing cholangiocarcinoma (10% risk).