RT Journal Article
SR Electronic
T1 MR Imaging of Cerebral Cortical Involvement in Aceruloplasminemia
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 657
OP 661
VO 26
IS 3
A1 Grisoli, Marina
A1 Piperno, Alberto
A1 Chiapparini, Luisa
A1 Mariani, Raffaella
A1 Savoiardo, Mario
YR 2005
UL http://www.ajnr.org/content/26/3/657.abstract
AB 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.