Perinatal liver pathology

Abstract

The pathologist may encounter perinatal liver disease at autopsy, when examining a stillbirth or neonatal death, or on liver biopsy to investigate the cause of neonatal jaundice or liver failure. This presentation aims to discuss the pathology of liver disease of intrauterine or neonatal onset. A pattern based approach is used. Even when a specific diagnosis is not reached, identification of the pattern of liver injury, in conjunction with clinical and laboratory findings often narrows the differential diagnosis and thereby assists in further decision making. Neonatal liver disease most commonly manifests with cholestatic jaundice/conjugated hyperbilirubinemia. Other presentations include neonatal liver failure, fetal hydrops, IUGR and stillbirth. Neonatal jaundice may be idiopathic, due to infection (viral, bacterial), metabolic or endocrine disorders, or toxic/drug related. The main causes of perinatal liver failure are neonatal hemochromatosis, inherited metabolic disorders and viral infections. In neonatal hemochromatosis the liver typically shows signs of subacute or chronic liver injury. Hepatic necrosis is characteristically seen in neonatal viral infections, or drug induced liver injury and metabolic disorders. Steatosis, cholestatic resetting and storage cells strongly suggest an underlying metabolic disorder. Use of special stains or electronmicroscopy in many cases will allow identification of storage material.