A clinicopathologic picture of severe neonatal liver disease associated with heavy stainable iron stores in a “hemochromatotic” distribution has been designated as neonatal or perinatal iron storage disease or hemochromatosis. In an attempt to determine the specificity of these findings, we determined the amount and distribution of stainable iron in four groups of autopsied infants: those with severe subacute/chronic liver disease of undetermined etiology, those with subacute/chronic liver disease of known etiology, those with severe acute liver disease, and those with no liver disease. Fourteen of 15 infants with severe subacute/chronic liver disease of unknown etiology showed heavy iron accumulation in a hemochromatotic distribution in more than one organ, in contrast to only one of 37 cases in the other three groups. The findings are compatible with the possibility that the combination of morphologic findings defines a single disease entity (of currently unknown etiology), and also with the possibility that this disease entity is specific only to the extent of establishing a relationship between severe early (in utero) liver injury and a hemochromatotic distribution of iron in multiple organs.
