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Grisoli, M. et al.

MR imaging of cerebral cortical involvement in aceruloplasminemia.

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.[1]

References

MR imaging of cerebral cortical involvement in aceruloplasminemia. Grisoli, M., Piperno, A., Chiapparini, L., Mariani, R., Savoiardo, M. AJNR. American journal of neuroradiology. (2005) [Pubmed]

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