Affiliations: Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada | University of Ottawa, Ottawa, ON, Canada | Division of Neonatology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada | Department of Pathology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada
Note:  Corresponding author: Dr. Carolina Jimenez-Rivera, Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Eastern Ontario, 401 Smyth Rd., K1H 8L1 Ottawa, ON, Canada. Tel.: +1 613 737 7600/Ext: 3367; Fax: +1 613 7384854; E-mail: [email protected]
Abstract: 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.