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AJNR - American Journal of Neuroradiology

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American Journal of Neuroradiology 26:657-661, March 2005
© 2005 American Society of Neuroradiology

Case Report
BRAIN

MR Imaging of Cerebral Cortical Involvement in Aceruloplasminemia

Marina Grisoli^a, Alberto Piperno^b, Luisa Chiapparini^a, Raffaella Mariani^b and Mario Savoiardo^a

^a Department of Neuroradiology, Istituto Nazionale Neurologico C. Besta, Milano
^b Department of Clinical Medicine, Azienda Ospedaliera San Gerardo, Università Milano-Bicocca, Monza, Italy

Address reprint requests to M. Grisoli, MD, Department of Neuroradiology, Istituto Nazionale Neurologico C. Besta, Via Celoria 11, 20133 Milano, Italy

Summary: Aceruloplasminemia is a rare autosomal recessive disorder. The lack of ceruloplasmin ferroxidase activity leads to parenchymal and reticuloendothelial iron overload, resulting in diabetes and progressive neurodegeneration with extrapyramidal disorders, ataxia, and dementia. We describe the MR imaging findings in a 40-year-old woman with hereditary aceruloplasminemia. The abnormal T2 hypointensities were more marked than those seen in any other condition, including degenerative disorders of the basal ganglia and Wilson disease, and they may be typical of aceruloplasminemia. To our knowledge, involvement of the cortex has not been described and suggests that brain iron accumulation in aceruloplasminemia is more extensive than previously believed, even in asymptomatic patients.

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