CADASIL的临床、影像学特征及其诊断策略(附2例报道)  

Clinical、imaging features and diagnosis strategies in CADASIL: Two cases report

作　　者：黄旌[1] 冯朝晖[1] 艾妮[1] 王托弟 

机构地区：[1]西安市华山中心医院神经内科,710043

出　　处：《卒中与神经疾病》2017年第6期519-522,533,共5页Stroke and Nervous Diseases

摘　　要：目的探讨常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病(CADASIL)的临床表现及影像学特征和确诊的要素。方法系统回顾分析经皮肤及肌肉活检或基因检测确诊的2例CADASIL的临床及影像学资料。结果例1临床表现为进行性记忆障碍,例2临床表现为脑缺血性卒中样发作,2例均无通常的脑血管疾病的危险因素,脑MRI T_2W及FLAIR序列均显示两侧脑室周围及深部脑白质、外囊及前颞区对称性分布的高信号,例1皮肤活检发现在血管壁平滑肌细胞基膜层有嗜锇颗粒(GOM)沉积;例2基因检测显示Notch3基因外显因子4,c.544C>T位点突变。结论如若患者具有进行性认知损害、反复缺血性脑卒中样发作等临床表现,且无通常的脑血管病的危险因素,磁共振检查显示两侧脑白质对称性异常信号时,应考虑CADASIL的可能,此时进行皮肤或肌肉活检及/或基因检测有助确诊。Objective To investigate clinical manifestations,Imaging features and definite diagnostic strategies on CADASIL. M ethods The clinical and imaging data of two patients diagnosed by skin biopsy or genetic testing as CADASIL were retrospectively analyzed. Results Case 1 clinical manifestation showed progressive memory decline,case 2 showed ischemic stroke-like episodes. Both case 1 and case 2 have without conventional risk factors for brain vascular diseases. Brain MRI T2 W and FLAIR sequences showed that the bilateral symmetric distributions in the periventricular and deep white matter hyperintencities,consist of the anterior temporal lobes and external capsules. Case 1 skin and muscle biopsy revealsed granular osmiophilic material（ GOM） in the basal layer of smooth muscle cells; case 2,genetic testing showed c. 5 4 4 C T mutation in exon 4 of Notch 3 gene. Conclusion If there were the progressively cognitive impairment and/or recurrent ischemic stroke-like episoder,without the common risk factors of cerebrovascular disease in the patient,brain MRI showed the symmetric abnormal hyperintencities in the white matter,the doctor should think that the patient may suffered from CADASIL,the skin or muscle biopsy and/or genetic testing will be able to confirm the diagnosis.

关 键 词：CADASIL 磁共振成像 白质脑病 基因诊断 

分 类 号：R742[医药卫生—神经病学与精神病学]