Massive hepatomegaly with jaundice as a main presenting feature of cystic Fibrosis

Abstract

Cystic fibrosis (CF) is a recessively inherited disease caused by mutations of the CF transmembrane conductance regulator (CFTR) gene. Patients classically present with evidence of pulmonary disease, malabsorption secondary to pancreatic insufficiency and high sweet chloride concentration. CF has can also be associated with a veriable phenotype which remains a diagnostic challenge. We report a case of a 2 year old girl with CF who initially presented with massive hepatomegaly and jaundice and was firstly suspected of a liver tumor. There was no personal or family history suggestive for CF. The diagnosis of CF liver disease was made after the results of the liver biopsy, sweat test analysis and confirmed with the existence of pathogenic mutation in the CFTR gene. Hepatomegaly and steatosis are known complications of CF but very uncommon as presenting features that lead to the diagnosis of CF. This report emphasizes the difficulty and importance of diagnosing cystic fibrosis in unusual patients.