伴皮层下梗死和白质脑病的常染色体显性遗传性脑动脉病的外周血管改变规律  

Pathological changes of vessels in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

作　　者：袁云[1] 王朝霞[1] 张巍[1] 吕鹤[1] 牛小媛[2] 张茁[3] 

机构地区：[1]北京大学第一医院神经内科,100034 [2]山西医科大学第一附属医院神经内科 [3]首都医科大学附属安贞医院神经内科

出　　处：《中华神经科杂志》2005年第1期7-10,共4页Chinese Journal of Neurology

基　　金：国家自然科学基金资助项目(30470595)

摘　　要：目的　报道 4例伴皮层下梗死和白质脑病的常染逑孕砸糯阅远霾(CADASIL)患者的外周血管病理改变规律。方法　4例患者分别来自 4个不同的CADASIL家族,其发病年龄分别在 41、38、44和 39岁,病程在 8个月至 3年不等,均以发作性头晕、轻度偏瘫和痴呆为主要表现。基因检查证实Notch3基因存在突变。4例患者均做腓肠神经活检, 6例同龄的非CADASIL患者作为对照,观察血管的结构改变。结果　4例患者的外周小动脉血管表现: (1)血管各层结构大致正常(例 1和 4); (2)血管中层萎缩性改变(例 3),小动脉壁平滑肌细胞萎缩和脱失伴随血管内膜肥厚,个别血管周围少量炎细胞浸润,毛细血管基底膜以及小直径微小动脉外膜出现肥厚;(3)血管中层增生性改变(例 2),不同直径小动脉中层平滑肌细胞肥大变圆和细胞数增多,伴大直径微小动脉的内膜肥厚以及小直径微小动脉的外膜肥厚。静脉结构光镜下均正常。电镜下颗粒嗜锇性物质主要出现在小动脉平滑肌细胞表面,偶尔累及毛细血管周细胞和小静脉平滑肌。6例对照中仅 2例出现轻度的内膜肥厚。结论　CADASIL主要累及小动脉壁中层平滑肌细胞,提示此病为小动脉肌病,任何部位的组织活检实质上是在检查微小动脉。不同患者外周微小动脉的病理改变存在不同的差别。Objectives Toevaluate the vascular pathological changes in 4 probands from different CADASIL families.Methods Sural nerve biopsies were performed in 4 probands, who had an onset of disease in an age of 38-44 years old and had the main sympotoms of recurrent stroke and dementia. The diagnosis was confirmed by MRI findings and genetic results of Notch3 gene analyses in all probands. The sural biopsy specimens, including 4 patients and 6 non-CADASIL controls, were examined under light and electron microscopes. Results The vascular pathological features in sural nerve of 4 CADASIL patients were: (1) without marked histological changes in vessel wall (Case 1 and 4); (2) atrophy of medial smooth muscle fibers of arterioles (Case 3) with thickening of arteriole intima, occasionally with perivascular infiltrate of lymphocyte and thickening of capillary basal lamina and micro-arteriole adventitia; (3) hypertrophy of medial smooth muscle fibers of arterioles (Case 2) with thickening of large arteriole intima and small arteriole adventitia. In all probands, GOM was noted in the basal lamina of vascular smooth muscle cells, more common affecting the arterioles and few, the capilaries and veins. Mild thickening of arteriole intima was observed in 2 of 6 controls. The media was unremarkable in all controls.Conclusions The smooth muscle cells in arterioles with large caliber were involved more prominently. Therefore CADASIL should be an angiomyopathy. It might be considered as a goal to observe arteriole in diagnostic examination in disease. The vascular pathological changes should be varied markedly among different patients. The relationship among the extra-cerebral vascular changes, the symptoms and the Notch3 gene mutations need to be determined in the further.

关 键 词：小动脉 患者 改变 外周血管 CADASIL 平滑肌细胞 白质脑病 肥厚 外膜 家族 

分 类 号：R743.3[医药卫生—神经病学与精神病学]