Dementia as a core clinical feature of a patient with aceruloplasminemia

Abstract

Abstract Aceruloplasminemia is an autosomal recessive disease, caused by systemic iron accumulation due to mutations in the Ceruloplasmin gene. We report two Iranian siblings who have been diagnosed with aceruloplasminemia. Although dementia has not been published as the first neurological feature, one of our cases was presented with pure dementia.

Keywords

• aceruloplasminemia
• ceruloplasmin
• dementia
• Iran
• iron accumulation