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Perinatal Services and College of Nursing, Medical University of South Carolina, Charleston, USA.
Neonatal hemochromatosis is a rare disease of iron metabolism, characterized by the excess accumulation of iron in the tissues. This occurs in utero and can lead to fetal demise or an infant who presents with advanced liver disease in the neonatal period. A case of neonatal hemochromatosis is reported in a 37-week infant who presented at birth with thrombocytopenia, coagulopathy, and abnormal liver imaging studies. The diagnoses of infection and metabolic errors were excluded before the confirmation of neonatal hemochromatosis was made. This diagnosis was confirmed by elevated ferritin levels and extrahepatic siderosis excluding the reticuloendothelial system. Anti-oxidant therapy was initiated with N-acetyl cysteine, selenium, vitamins C and E and intravenous immunoglobulin. The infant demonstrated a positive response and was discharged home with outpatient follow up. The clinical presentation of neonatal hemochromatosis is reviewed as well as diagnosis and treatment strategies.
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