Exogenous iron overload in perinatal hemochromatosis: a case report

Pediatr Pathol. May-Jun 1991;11(3):389-97. doi: 10.3109/15513819109064775.


We report an infant with fatal neonatal liver disease in whom efforts to correct an associated unremitting anemia resulted in massive exogenous iron overload that was expressed as perinatal hemochromatosis (PH). Levels of iron and copper were elevated in multiple tissues. Echovirus subtype 9, recovered from the urine at age 3 weeks, may have been etiologic in the liver failure. PH is best viewed as a definable phenotype with an undefined genetic and/or environmental basis that emerges only in the context of severe perinatal liver disease. The absence of hemosiderin in splenic and bone marrow reticuloendothelial (RE) cells of our patient suggests an important role for RE cell dysfunction.

Publication types

  • Case Reports

MeSH terms

  • Anemia / congenital
  • Anemia / therapy
  • Copper / metabolism
  • Hemochromatosis / blood
  • Hemochromatosis / etiology*
  • Hemochromatosis / pathology
  • Humans
  • Infant, Newborn
  • Iron / blood*
  • Iron / metabolism
  • Liver Diseases / congenital
  • Liver Diseases / therapy
  • Male
  • Transfusion Reaction


  • Copper
  • Iron