Congenital Hepatic Fibrosis Presenting With Pancytopenia

Abstract

INTRODUCTION Congenital hepatic fibrosis (CHF) is a rare inherited fibrocystic disease of the liver characterized by ductal plate malformation, which is a developmental abnormality of the biliary system. CHF can be associated with ciliopathies, which have varying degrees of both liver and renal involvement. Cystic kidney diseases including autosomal polycystic kidney disease are the most common renal manifestation associated with CHF. Other common hepatic manifestations include secondary biliary strictures and periportal fibrosis, which can lead to portal hypertension and its associated sequelae. Common sequela of portal hypertension includes hypersplenism, esophageal varices, and ascites (1,2). As the spleen acts as a reservoir for red blood cells, platelets, and lymphocytes, cell line deficiencies such as anemia and thrombocytopenia can be seen in CHF. However, pancytopenia, while seen in hypersplenism, is an unusual presentation in children with CHF. We present a case of a boy with CHF who presented with hepatosplenomegaly and pancytopenia.