Grisoli Marina, Piperno Alberto, Chiapparini Luisa, Mariani Raffaella, Savoiardo Mario
Department of Neuroradiology, Istituto Nazionale Neurologico C. Besta, Milano, Italy.
AJNR Am J Neuroradiol. 2005 Mar;26(3):657-61.
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.
无铜蓝蛋白血症是一种罕见的常染色体隐性疾病。铜蓝蛋白亚铁氧化酶活性的缺乏会导致实质和网状内皮系统铁过载，进而引发糖尿病以及伴有锥体外系疾病、共济失调和痴呆的进行性神经退行性变。我们描述了一名40岁遗传性无铜蓝蛋白血症女性的磁共振成像表现。异常的T2低信号比包括基底神经节退行性疾病和威尔逊病在内的任何其他疾病所见的都更明显，它们可能是无铜蓝蛋白血症的典型表现。据我们所知，此前尚未描述过皮质受累情况，这表明无铜蓝蛋白血症中脑铁蓄积比之前认为的更广泛，即使在无症状患者中也是如此。
