Miyajima H, Nishimura Y, Mizoguchi K, Sakamoto M, Shimizu T, Honda N
Neurology. 1987 May;37(5):761-7. doi: 10.1212/wnl.37.5.761.
A 52-year-old woman had a newly recognized disorder of familial hypoceruloplasminemia, blepharospasm, retinal degeneration, and high-density areas in CT of the basal ganglia and liver scan. Immunofixation electrophoresis disclosed apoceruloplasmin deficiency. Kinetic, x-ray analysis, and histochemical study showed accumulation of iron in liver and brain, but not of copper. Intestinal copper absorption was reduced, but liver uptake was increased. Ceruloplasmin is involved in iron metabolism, and the findings suggest that hypoceruloplasminemia due to lack of apoceruloplasmin was causally linked to the iron deposition in basal ganglia and other organs, leading to blepharospasm and retinal degeneration.
一名52岁女性被新诊断患有家族性低铜蓝蛋白血症、眼睑痉挛、视网膜变性，且CT显示基底神经节有高密度区，肝脏扫描也有异常。免疫固定电泳显示脱辅基铜蓝蛋白缺乏。动力学、X射线分析和组织化学研究表明，铁在肝脏和大脑中蓄积，但铜没有。肠道铜吸收减少，但肝脏摄取增加。铜蓝蛋白参与铁代谢，这些发现表明，由于脱辅基铜蓝蛋白缺乏导致的低铜蓝蛋白血症与基底神经节和其他器官中的铁沉积存在因果关系，进而导致眼睑痉挛和视网膜变性。
