Neonatal hemochromatosis (NH) is a rare disorder with intrauterine onset, liver disease evident hours after birth and disturbed iron handling with extrahepatic siderosis, which may recur in siblings.

We present case reports about two siblings. The first infant died of multisystem failure after five weeks of intensive care. NH was confirmed by liver biopsy.

His sister also showed placental edema, oligohydramnion, hypoglycemia, a hemorrhagic diatheses, anemia and hyperferritinemia.

Diagnosis was confirmed by characteristic magnetic resonance imaging (MRI). With combination of desferrioxamine and recombinant-human-erythropoietin (iron depletion and stimulation of erythropoiesis) and vitamin E as an antioxidant and avoidance of external iron overload due to RBC-transfusions clinical and biochemical alterations resolved within threee months. At the age of three years the girl is still healthy.

Conclusion:

NH should not be defined as generally fatal. Even without liver transplantation a certain proportion of patients with NH can be treated successfully.