The second form is more diffuse, and when associated with portal hypertension and congenital hepatic fibrosis, is often referred to as "Caroli syndrome".

[citation needed] Morbidity is common and is caused by complications of cholangitis, sepsis, choledocholithiasis, and cholangiocarcinoma.

Portal hypertension may be present, resulting in other conditions including enlarged spleen, hematemesis, and melena.

Images taken by CT scan, X-ray, or MRI show enlarged intrahepatic (in the liver) bile ducts due to ectasia.

On a CT scan, Caroli disease can be observed by noting the many fluid-filled, tubular structures extending to the liver.

Bowel gas and digestive habits make it difficult to obtain a clear sonogram, so a CT scan is a good substitution.

When the intrahepatic bile duct wall has protrusions, it is clearly seen as central dots or a linear streak.

[10] Caroli disease is commonly diagnosed after this “central dot sign” is detected on a CT scan or ultrasound.

[10] However, cholangiography is the best, and final, approach to show the enlarged bile ducts as a result of Caroli disease.

When the disease is localized to one hepatic lobe, hepatectomy relieves symptoms and appears to remove the risk of malignancy.

[8][13] He described it as "nonobstructive saccular or fusiform multifocal segmental dilatation of the intrahepatic bile ducts"; basically, he observed cavernous ectasia in the biliary tree causing a chronic, often life-threatening hepatobiliary disease.