Radiological Findings of Two Sisters with Aceruloplasminemia Presenting with Chorea

Excerpt

The amount of intracellular free iron is strictly regulated by its binding to ferritin. Ceruloplasmin oxidizes a surplus of intracellular free iron into a ferric state and exports ferric iron from the cell. Thus, ceruloplasmin deficiency increases intracellular free iron that catalyzes the conversion of hydrogen peroxide to highly reactive hydroxyl radicals and may facilitate oxidative stress and neurodegeneration [1]. Ceruloplasmin is synthesized and secreted by hepatocytes, astrocytes, choroid plexus, and Sertoli cells. In patients with aceruloplasminemia, iron accumulates in the liver, pancreas, retina and brain [1]. Aceruloplasminemia presents with diabetes, retinopathy, cognitive impairment, and variable movement disorders; however, chorea is uncommon [2]. We described radiological findings of two sisters presenting with chorea due to aceruloplasminemia. …