Neonatal hemochromatosis (NH) is a rare, often fatal disorder characterized by liver failure and hepatic and extrahepatic iron overload. Clinical manifestations can occur in utero or immediately after birth. Evidence suggests that most cases are due to a gestational disease with transplacental transfer of maternal IgG antibodies targeting the fetal liver resulting in immune injury. The alloimmune target is believed to be a fetal hepatocyte cell surface antigen, with subsequent complement activation resulting in severe loss of hepatocytes and fetal iron overload. This cascade of events leads to acute liver failure and neonatal death. With gestational alloimmune liver disease (GALD) being the mechanism of liver injury in most cases of NH, a new paradigm of treatment with intravenous immunoglobulin (IVIG) and exchange transfusion has been successfully used. We describe an extremely ill newborn with NH successfully treated with three doses of IVIG.
Keywords: Liver failure; gestational alloimmune liver disease; intravenous immonoglobulin; neonatal hemochromatosis.