Presentation
Congenital cholestatic liver disease. Hyperbilirubenaemia since birth.
Patient Data
The liver is enlarged with cirrhotic features and periportal hepatic fibrosis. Intrahepatic biliary radicals show multiple strictures and irregular cystic changes, notably at the right lobe.
The gallbladder is contracted at couldn't be assessed. The common bile duct is not dilated. Normal pancreas and no pancreatic duct dilatation.
Mild splenomegaly is noted. No ascites.
The infant underwent a random TCNB of the liver, from segment V through a subcostal approach. Multiple tissue cores are sent for histopathology.
Microscopic picture
Distorted liver parenchyma in the form of regenerative variable sized hepatocytic nodules devoid of steatosis. The nodules are outlined thick fibrocellular collagenic septae including dilated portal tracts. The later is expanded by severe degree of progressive fibrosis entangling proliferating bile ducts, some are filled with inspissated bile. Very mild infiltration of the portal tracts with chronic mononuclear inflammatory cells.
No interface hepatitis, no confluent necrosis and no lytic necro-inflammation are included. Features of anastomosing biliary channels in irregular, bland fibrous stroma, continuous with biliary tree are evident as well as marked proliferation of bile ductules with inspissated bile.
Conclusion
Congenital hepatic fibrosis with prominent cholestasis and secondary grade 4 cirrhosis; in liver US guided random liver biopsy. No active hepatitis, no steatosis and no atypia present.
Case Discussion
A case with congenital cholestatic liver disease with jaundice since birth. Liver biopsy revealed congenital hepatic fibrosis. It is a rare autosomal recessive disease, one of the ductal plate malformations (DPMs), which are known as fibropolycystic liver diseases that leads to secondary biliary strictures and periportal fibrosis ending with portal hypertension 1.
MRI findings include cystic dilatation of intrahepatic bile ducts, hepatosplenomegaly, periportal hepatic fibrosis and autosomal recessive polycystic kidney disease (not present in this case) 2.
Case courtesy Prof. Dr. Mohamed ElShafie, professor of radiology, Alexandria university, Egypt.