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Thrombocytopenia and splenomegaly: an unusual presentation of congenital hepatic fibrosisAbstract: Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease that primarily affects the hepatobiliary and renal systems. It is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease [1-3]. CHF results from a malformation of the ductal plate (the embryological precursor of the biliary system), secondary biliary strictures, and periportal fibrosis. This subsequently results in the development of portal hypertension [4]. The exact incidence and prevalence of CHF are not known. Only a few hundred patients with CHF have been reported in the literature [1-4]. The disease appears in both sporadic and familial patterns and is associated with a wide spectrum of disorders, the most frequent of which is autosomal recessive polycystic kidney disease (ARPKD), but can also be an isolated condition [1,2].The age at clinical onset and the spectrum of clinical manifestations is highly variable because CHF has 4 different forms: portal hypertensive (most common), cholangitic, mixed, and latent. Therefore most patients present with hepatomegaly and portal hypertension (hematemesis or melena is the presenting sign in 30 to 70% of patients) in the first decades of life and some patients present with cholangitis [1-5]. Patients with the latent form generally present at an older age or are diagnosed as an incidental finding. Firm or hard hepatomegaly is present nearly in all patients, often with a prominent left lobe, and this is usually one of the presenting signs.The hematological manifestations due to hypersplenism generally arise when the other gastrointestinal manifestations are clearly developed [1-5].We describe the first case of CHF presenting in an healthy child, with thrombocytopenia and splenomegaly as the only manifestations of the disease.A 10-year-old girl of Caucasian origin was admitted to our Pediatric Hematology-Oncology Outpatient Clinic for thrombocytopenia (68 × 103/mm3) and splenomegaly. Family history was unremarkable except for
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