Caroli Syndrome Associated with Polycystic Kidney and Congenital Heart Disease in Children in Africa

Abstract

Caroli syndrome (CS) is defined as the association of Caroli disease with congenital liver fibrosis. It is a rare congenital pathology with a global prevalence of less than 1 / 1,000,000 inhabitants. We report a case of CS associated with polycystic kidney disease (PKD). He is a 7 years old boy followed from the age of 2 years for epigastric pain. Abdominal ultrasounds were performed at the ages of 2 years, 4 years and 6 years. They showed hepatomegaly associated with dilation of the intrahepatic bile ducts, hepatic fibrosis and bilateral renal cysts and micro-stones. The child received several hospitalizations, the last of which was at the age of 6 years for abdominal pain, ascites, digestive haemorrhage secondary to portal hypertension and hematuria. On admission, the weight was 19 kg (-2 DS), the size was 119cm (-1 DS) and the BMI was 13.41 (-3DS). The child had no icterus. The abdomen was distended and a painless hepatomegaly was palpated with a hepatic arrow at 12.5cm and stage II splenomegaly. The urine test showed hematuria. The liver test showed an isolated elevation of alkaline phosphatase. The abdominal computed tomography scan showed hepatomegaly, dilation of the intrahepatic bile ducts and the presence of bilateral renal hypodense cystic lesions. The patient received Aldactone, Propanolol, Captopril, a blood transfusion and ursodesoxycholic acid as treatment. The evolution is stationary awaiting surgical management.