Neonatal Hemochromatosis – A Case Report

Abstract

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. We hereby report a case of neonatal hemochromatosis in a 42 week infant who presented at birth with abnormal liver functions with conjugated hyperbilirubenemia, raised ferritin and abnormal 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 extra hepatic siderosis excluding the reticuloendothelial system. Anti-oxidant therapy was initiated with vitamins C and E and intravenous immunoglobulin. The baby demonstrated a positive response and was discharged home with outpatient follow up.