Central nervous system involvement in a rare genetic iron overload disorder

Abstract

In most genetic iron overload disorders the diagnosis can be rejected when transferrin saturation is low. We describe a patient and her family with hyperferritinaemia and low transferrin saturation with iron accumulation in the central nervous system (CNS) and liver due to hereditary aceruloplasminaemia. In this rare genetic iron overload disorder oxidation of iron is disturbed, resulting in storage of iron in the CNS and visceral organs.