Central nervous system involvement in a rare genetic iron overload disorder.
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.
Department of Internal Medicine, Medical Center Leeuwarden, Leeuwarden, the Netherlands. carina.bethlehem@znb.nl
C
C
Bethlehem
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B
van Harten
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M
Hoogendoorn
D001479:Basal Ganglia / Q000473:pathology; D001921:Brain / Q000473:pathology*; D002570:Ceruloplasmin / Q000032:analysis / Q000172:deficiency / Q000235:genetics*; D005260:Female; D006801:Humans; D019189:Iron Metabolism Disorders / Q000175:diagnosis / Q000235:genetics; D019190:Iron Overload / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008875:Middle Aged; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000175:diagnosis / Q000235:genetics; D014168:Transferrin / Q000032:analysis
D014168:Transferrin; D002570:Ceruloplasmin