Neonatal hemochromatosis in a newborn with Down syndrome

Background: Neonatal hemochromatosis (NH) is a cause of neonatal/pediatric acute liver failure. Liver dysfunction/failure in Down syndrome had been described in relation to increased susceptibility to infection and transient myeloproliferative disease (TMD). The occurrence of NH in Down syndrome is described in only a few case reports. Material and methods: A complete autopsy have been performed in a 79-day-old infant with severe liver dysfunction. TMD was suspected antemortem following a report of peripheral blood leukocytosis with 14% atypical cells. Results: The complete autopsy revealed NH-phenotype to be the cause of liver dysfunction and subsequent death. Conclusion: Though TMD is a common cause of liver dysfunction in Down syndrome, NH should also be considered in its differential.