Congenital Hepatic Fibrosis: A Case Report with Review of the Literature

Congenital hepatic fibrosis (CHF) is a rare genetic disease, transmitted in an autosomal recessive mode. It is due to a malformation of the ductal plate of the intrahepatic bile ducts during embryogenesis at the origin of an ectasia of these ducts with the formation of a periportal fibrosis encircling the ducts. Its incidence and exact prevalence are not known, to date a few rare cases of CHF have been reported in the literature. It can appear at any age, from infancy to the fifth or sixth decade. Its clinical presentation is very variable, ranging from asymptomatic forms to forms with severe portal hypertension. It may be isolated or associated with other ciliopathies, notably autosomal recessive polycystic kidney disease and Caroli disease, rarely juvenile nephronophthisis, autosomal dominant polycystic kidney disease and various syndromic conditions. Liver biopsy remains the gold standard for confirming the diagnosis. However, imaging data may guide us. The aim of our paper is to discuss the various clinical manifestations that should be considered as suggestive of this pathology, as well as the imaging and histological findings, given the rarity and heterogeneity of the clinical forms of this pathology. We present the case of a young patient who was admitted for digestive hemorrhage, after assessing the patient’s condition and stabilization, an etiological workup was performed, including ultrasound, viral serology and autoimmunity tests, all of which came back normal, necessitating liver biopsy, which came back in favor of congenital liver fibrosis.