表现为腰痛、驼背及帕金森综合征的伴皮质下梗死和白质脑病的常染色体显性脑动脉病  

CADASIL with clinical manifestations of lumbago, hunchback and Parkinson 's syndrome

作　　者：曹蕾 张奇山[2] 袁毓蔓 刘琳 何伶俐 张翀 李一峰 罗莎林 刘玲英[2] 游咏[3] Cao Lei;Zhang Qishan;Yuan Yuman;Liu Lin;He Lingli;Zhang Chong;Li Yifeng;Luo Shalin;Liu Lingying;You Yong(Department of Neurology,the Affiliated Chenzhou Hospital,University of South China,Chenzhou,Hunan 423000,China;Department of Neurology,Chenzhou First People’s Hospital,Chenzhou,Hunan 423000,China;Department of Neurology,the First Affiliated Hospital of University of South China,Hengyang,Hunan421001,China)

机构地区：[1]南华大学附属郴州医院神经内科,郴州423000 [2]郴州市第一人民医院神经内科423000 [3]南华大学第一附属医院神经内科,衡阳421001

出　　处：《中华医学遗传学杂志》2019年第9期922-925,共4页Chinese Journal of Medical Genetics

基　　金：湖南省卫生计生委科研课题(C20180255).

摘　　要：目的探讨1例伴皮质下梗死和白质脑病的常染色体显性脑动脉病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)患者的临床特征和基因检测结果.方法收集患者及其家系成员的临床表型、神经影像学及基因检测资料,结合文献总结其临床特点.结果患者无头痛、反复卒中、痴呆、情感障碍等CADASIL的典型临床表现,仅表现为进行性加重的帕金森症状以及后期出现的腰痛、驼背、吞咽困难、视物重影等.头颅MRI扫描显示左侧基底节和外囊腔隙性脑梗死.基因检测发现NOTCH3第11外显子c.1630C>T(p.R544C)变异.其母亲、姐姐和弟弟均携带c.1630C>T(p.R544C)变异,但具有不同的表型.结论CADASIL的临床表型有较大的异质性,腰痛、驼背以及帕金森综合征可能是一种少见的临床表型.Objective To report a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL)manifesting as lumbago,hunchback and Parkinson's syndrome.Methods A 49-years-old male CADASIL patient was reported.Results of clinical examination,neuroimaging and genetic testing were analyzed.His family members were also subjected to genetic testing.Related literature was reviewed.Results The patient had no typical symptoms of CADASIL such as headache,repeated stroke,dementia and emotional disorders,but progressive Parkinson's syndrome,late onset lumbago,hunchback,dysphagia,and diplopia.Brain MRI showed left basal ganglia and external capsule lacunar infarction.Genetic testing revealed a point mutation c.1630C>T(p.R544C)in exon 11 of the NOTCH3 gene.A heterozygous mutation was detected in the same gene in his mother,elder sister and younger brother,all of whom showed different clinical phenotypes.Conclusion The clinical features of CADASIL are heterogeneous.Lumbago,humpback,and Parkinson's syndrome may be a rare clinical phenotype of CADASIL.

关 键 词：伴皮质下梗死和白质脑病的常染色体显性脑动脉病 驼背 帕金森综合征 

分 类 号：R74[医药卫生—神经病学与精神病学]