NEONATAL HEMOCHROMATOSIS

Neonatal hemochromatosis is responsible for death in utero or severe hepatic insufficiency in the newborn, generally with rapid progression to death. Recurrence in sibships is frequent. Necropsy findings are characterized by siderosis in the liver, pancreas, heart, thyroid, but not in the reticuloendothelial system. Urinary cytology, serum iron concentration, iron-binding capacity, ferritin, and magnetic resonance imaging allow a diagnosis to be made before death. Liver transplantation probably offers the best chance of survival. The pathophysiology is unknown; there may be a variety of etiologies.