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Case Reports
Journal Article
Thrombocytopenia and splenomegaly: an unusual presentation of congenital hepatic fibrosis.
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. 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 haematological manifestations due to hypersplenism generally arise when the other gastrointestinal manifestations are clearly developed. We describe the first case of CHF presenting in an otherwise healthy child, with thrombocytopenia and splenomegaly as the only manifestations of the disease.
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