Sanum Gandapur, Muhammad Naveed Anwar, Muhammad Rizwan Bashir


Congenital hepatic fibrosis is an autosomal recessive fibro-polycystic disorder with variable degree of hepatic fibrosis, portal hypertension and renal cystic disease. It is often diagnosed incidentally and patients have well preserved liver functions.

The patient presented was a 14 years old male, referred from Department of Pediatrics, Rehman Medical Institute (RMI), with ultrasound findings of chronic liver parenchymal disease and splenomegaly associated with moderate derangement of liver function. On examination, no specific findings of chronic liver disease were present. CT-Scan followed by liver biopsy confirmed distorted normal lobular architecture. Upper GI endoscopy showed grade-1 esophageal varices. Hepatitis B & C serology were negative, serum auto-antibodies, serum IgG and alpha-1 antitrypsin were within normal limits. A final diagnosis of congenital hepatic fibrosis was reached after review of the case with multi-disciplinary team.

This case illustrates that congenital hepatic fibrosis, though rare, can be considered as a precursor of liver cirrhosis and it is important for physicians to be aware of this diagnosis, as early detection would allow regular follow up for signs of deteriorations or complications like hepatocellular carcinoma.

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