Association of Poland and Caroli Syndromes: A Case Report

Abstract

Poland syndrome and Caroli’s syndrome are two Conditions not usually found in association. This unusual case of Poland syndrome highlights once again the wide spectrum of clinical presentation of this rare condition. A 9-year-old boy presented with hepatomegaly.  Clinical examination revealed a right anterior chest wall depression, hypoplasia of the right nipple, hypoplasia of the right pectoralis major muscle, pectus excavatum, hepatomegaly and splenomegaly. The diagnosis of Poland syndrome was made on the basis of clinical and radiological features. Liver biopsy showed congenital hepatic fibrosis and magnetic resonance cholangiography revealed cystic dilatation of the common bile duct, dilatation of the right and left hepatic ducts with visibility of intrahepatic bile ducts and portal hypertension which was confirmed by upper gastrointestinal endoscopy. This case emphasizes the need of hepatic involvement screening in patients with Poland syndrome to allow early treatment and prevent complications.  

Keywords: Poland Syndrome, Caroli Syndrome, Pectolaris Major Muscle Agenesis, Congenital Hepatic Fibrosis