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Caroli syndrome associated with atrial septal defect and polydactyly

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Caroli disease is multifocal segmental dilatation of the large intrahepatic bile ducts that connect to the main duct. It is considered a rare disease with an incidence rate of 1 in 1,000,000 births. There are two types of Caroli: the first type is the simple type, Caroli disease, which includes only cystic dilatation of the intrahepatic bile ducts. The second is called Caroli syndrome, which consists of Caroli disease and congenital hepatic fibrosis and might lead to portal hypertension leading to esophageal varices and splenomegaly.

In this report a 6-year-old girl presented to the hospital with abdominal pain for the last month with abdominal enlargement is described. The patient was already diagnosed with Caroli disease and polydactyly (six fingers on each limb) when she was born. Investigations including complete blood count, blood smear, bone marrow biopsy, esophagoscopy, abdominal ultrasound, and computed tomography scan show splenomegaly associated with hypersplenism, fourth-grade non-bleeding varices, intrahepatic cystic formations in the left and right lobes, and an atrial septal defect with a left-to-right shunt. The patient is scheduled for a splenectomy after she is vaccinated with the appropriate vaccines. After follow-up for a week in the hospital, complete blood count shows an improvement.

The association of liver diseases, polydactyly, and congenital heart diseases is extremely rare and is only documented few times in the literature. Read the full article here.

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