Kurisaki Hiroshi, Yomono Harumi, Murayama Shigeo, Hebisawa Akira
Department of Neurology, National Tokyo Hospital.
Rinsho Shinkeigaku. 2002 Apr;42(4):293-8.
We presented first two cases of multiple system atrophy (MSA) with a-/hypo-ceruloplasminemia (hypo-Cp). To know whether hypo-Cp was a cause of MSA, we investigated distribution of iron in brains.
Investigating history, neurological sings and symptoms, neuroimagings, and neuropathological findings of the 2 cases, we demonstrate that these 2 cases were typical MSA. Serum ceruloplasmin (Cp) values of two cases were investigated, as well as those of 14 MSA patients diagnosed after the 2 cases. In the 2 cases, we compared distribution of lesions and distribution of iron depositions revealed by Berlin blue stain (iron stain). Further, we compared depositions of iron in substantia nigra, putamen, and dentate nucleus of the 2 cases with those of 4 control MSA, 2 Parkinson's disease (PD), 2 amyotrophic lateral sclerosis (ALS), and 3 controls.
Case 1 was 68-year-old man who developed gait disturbance, and had anti-Parkinson disease drugs after diagnosis of PD. Parkinsonism was progressed, and became bed-ridden after 6 years when he died. Neuropathological finding was typical MSA from distribution of lesions, as well as existence of GCIs and NCIs. Case 2 was 61-year-old man who developed parkinsonism. After 9 years, he had tracheostomy, and after 11 years died of renal failure. Neuropathological finding was typical MSA. With an investigation of serum Cp values of clinically diagnosed 14 MSA patients, we found 2 other cases of MSA with hypo-Cp. Iron stain of the 2 brains revealed that iron depositions were found in substantia nigra and putamen, but were not found neither in pontine base, cerebellum, nor inferior olive. Iron depositions were also seen in substantia nigra and putamen of control MSA cases as same degree as MSA with hypo-Cp, but iron depositions were fewer in PD, ALS and controls.
Clinico-pathological findings of the the 2 cases were those of typical MSA, but were not same as those of previously reported hypo-Cp. Previous reports suggested iron depositions as a cause of brain lesions, but, we concluded that, in the 2 cases, iron depositions were not a direct cause of MSA lesions. However, high incidence of association of hypo-Cp and MSA shown in our study suggests a relation between hypo-Cp and MSA.
我们报告了首例合并血铜蓝蛋白缺乏/低下血症（低铜蓝蛋白血症）的多系统萎缩（MSA）病例。为了解低铜蓝蛋白血症是否为MSA的病因，我们研究了大脑中铁的分布情况。
通过调查这2例患者的病史、神经系统体征和症状、神经影像学及神经病理学检查结果，我们证实这2例为典型的MSA。检测了这2例患者以及在这2例之后确诊的14例MSA患者的血清铜蓝蛋白（Cp）值。对于这2例患者，我们比较了病变分布以及柏林蓝染色（铁染色）显示的铁沉积分布。此外，我们还将这2例患者黑质、壳核和齿状核中的铁沉积与4例对照MSA、2例帕金森病（PD）、2例肌萎缩侧索硬化症（ALS）患者以及3例对照的铁沉积进行了比较。
病例1为一名68岁男性，出现步态障碍，在被诊断为PD后接受了抗帕金森病药物治疗。帕金森症状逐渐进展，6年后去世时已卧床不起。从病变分布以及是否存在胶质细胞胞浆内嗜酸性包涵体（GCIs）和神经元胞浆内包涵体（NCIs）来看，神经病理学检查结果为典型的MSA。病例2为一名61岁男性，出现帕金森症状。9年后进行了气管切开术，11年后死于肾衰竭。神经病理学检查结果为典型的MSA。通过对14例临床诊断的MSA患者血清Cp值的调查，我们又发现了另外2例低铜蓝蛋白血症的MSA病例。对这2例大脑进行铁染色显示，铁沉积见于黑质和壳核，但在脑桥基底部、小脑及下橄榄核均未发现。对照MSA病例的黑质和壳核中也可见到与低铜蓝蛋白血症的MSA病例程度相同的铁沉积，但PD、ALS患者及对照中的铁沉积较少。
这2例患者的临床病理表现为典型的MSA，但与先前报道的低铜蓝蛋白血症病例不同。先前的报道认为铁沉积是脑病变的原因，但我们得出结论，在这2例患者中，铁沉积并非MSA病变的直接原因。然而，我们研究中显示的低铜蓝蛋白血症与MSA的高关联率提示了两者之间的关系。
Zotero 插件