Morita H, Inoue A, Yanagisawa N
Department of Medicine (Neurology), Shinshu University School of Medicine.
Rinsho Shinkeigaku. 1992 May;32(5):483-7.
A 55-year-old female with progressed dementia, cerebellar ataxia was reported. There was no family history of the same symptoms although her brothers, sisters and a son showed hypoceruloplasminemia and decrease of the serum copper content. On physical examination, anemia, dementia, dysarthria, torticollis, choreic involuntary movement of respiratory muscles, hyperreflexia in extremities and cerebellar ataxia were noted. Blood analysis revealed microcytic hypochromic anemia, diabetes mellitus, decrease of copper content of the serum and urine. Serum ferritin concentration was increased. Serum ceruloplasmin could not be detected. Biopsy of the liver showed that copper content in the liver was slightly increased and iron content was remarkably increased. On MRI study, dentate nucleus of the cerebellum, the thalamus, the putamen and the caudate nucleus and the liver showed low intensity in both T1 and T2 weighted images. Based on increased iron content in the liver, the radiological findings of the brain suggested deposition of iron in the brain. This deposition was considered as caused by deficiency of function of ceruloplasmin as ferroxidase. This disorder is suggested as a new disease due to ceruloplasmin deficiency different from Wilson's disease.
据报道，一名55岁女性患有进展性痴呆和小脑共济失调。尽管她的兄弟姐妹和儿子表现为低铜蓝蛋白血症和血清铜含量降低，但她没有相同症状的家族史。体格检查发现贫血、痴呆、构音障碍、斜颈、呼吸肌的舞蹈样不自主运动、四肢反射亢进和小脑共济失调。血液分析显示小细胞低色素性贫血、糖尿病、血清和尿液铜含量降低。血清铁蛋白浓度升高。未检测到血清铜蓝蛋白。肝脏活检显示肝脏铜含量略有增加，铁含量显著增加。在MRI研究中，小脑齿状核、丘脑、壳核、尾状核和肝脏在T1和T2加权图像上均显示低信号强度。基于肝脏中铁含量的增加，脑部的影像学表现提示铁在脑内沉积。这种沉积被认为是由于铜蓝蛋白作为铁氧化酶的功能缺陷所致。这种疾病被认为是一种不同于威尔逊病的由铜蓝蛋白缺乏引起的新疾病。
