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Case Reports
. 2010 Apr 12:5:4.
doi: 10.1186/1750-1172-5-4.

Thrombocytopenia and splenomegaly: an unusual presentation of congenital hepatic fibrosis

Serena Botto Poala  1 , Gianni Bisogno, Raffaella Colombatti
Affiliations
Case Reports

Thrombocytopenia and splenomegaly: an unusual presentation of congenital hepatic fibrosis

Serena Botto Poala et al. Orphanet J Rare Dis. .

Abstract

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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Figures

Figure 1
Figure 1
Abdomen MRI showing reduction of the volume of the right liver lobe, hypertrophy of the lateral segment of the left liver lobe and splenomegaly.
Figure 2
Figure 2
Cholangio MRI showing slight dilatation of the biliary tract of the right lobe, normal hepatic duct and choledoch.
See this image and copyright information in PMC

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