CADASIL病的超微病理研究  

Ultrapathological study of CADASIL(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)

作　　者：孙异临[1] 马惠姿[2] 张翠萍[1] 张在强[2] 金良韵[1] 曲宝清[1] 

机构地区：[1]首都医科大学北京市神经外科研究所 [2]首都医科大学附属北京天坛医院神经内科,北京100050

出　　处：《电子显微学报》2015年第5期433-437,共5页Journal of Chinese Electron Microscopy Society

摘　　要：应用透射电镜观察研究16例伴有皮层下梗死及白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)患者血管的超微病理特点,探讨其发病机制,为临床诊断提供超微病理诊断依据。收集从2000年至2014年16例北京天坛医院神经内科CADASIL患者的皮肤活检组织标本,在透射电镜下仔细观察血管组织的超微病理特点,并对CADASIL患者的超微病理学、影像学及临床表现的关系进行讨论。电镜检查可见血管平滑肌细胞基膜凹陷处出现特征性颗粒状电子致密嗜锇物质(granular electron dense osmiophilic material,GEOM),并在该物质附近伴有许多胞吐小泡。CADASIL病患者临床特点为中年发病、反复发作的脑卒中及进行性智力下降。该病是与Notch3基因突变相关以显性遗传方式表达的脑动脉病,头颅核磁共振检查呈现多发腔隙性梗死及脑白质病变。CADASIL病的电镜超微病理特点为血管平滑肌细胞基膜凹陷处聚积特征的GEOM是诊断该病的重要手段,该物质可能与所伴随的胞吐小泡的分泌有关。We collected skin biopsy specimens of 16 cases of patient in the Department of Neurology of Beijing Tiantan Hospital from the 2000 to 2014. The ultrastructural features of subcutaneous vascular tissue was observed by using transmission electron microscope （ TEM ） . The relationship among the imaging, ultrastructural pathology and clinical manifestations was discussed. The clinical characteristics of the patients are recurrent ischemic stroke and progressive decline in intelligence in the middle age. The cranial magnetic resonance imaging shows multiple lacunar infarction and cerebral white matter lesions. Under TEM, a specific granular electron dense osmiophilic materials（ GEOM） can be found in the indentations of the basal membrane of the arteriolar smooth muscle cell and a large number exocytosis vesicles in nearby region can also be found. The value of ultrapathology in diagnosis of CADASIL and the source of GEOM were disscussed.

关 键 词：CADASIL 电镜 超微病理 颗粒状嗜锇物质 

分 类 号：R743[医药卫生—神经病学与精神病学]