误诊为多发性硬化的伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病1例  

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy misdiagnosed as multiple sclerosis:a case report

作　　者：余小艳 曾丽莉[1] Yu Xiaoyan;Zeng Lili(Department of Neurology,Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China;Department of Neurology,Luan People's Hospital,Luan 237005,China)

机构地区：[1]上海交通大学医学院附属瑞金医院神经内科,上海200025 [2]安徽省六安市人民医院神经内科,六安237005

出　　处：《中华神经科杂志》2025年第1期76-80,共5页Chinese Journal of Neurology

摘　　要：伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)是一种遗传性脑小血管疾病,表现为反复发作的脑缺血事件、先兆偏头痛和认知功能下降。多发性硬化(MS)是以中枢神经系统白质炎性脱髓鞘为主要特点的自身免疫病,寡克隆区带阳性是该病诊断的重要支持依据。两者在临床表现和影像学上有较多类似之处,容易造成误诊。本文报道1例因寡克隆区带阳性最初诊断为MS,10余年后经基因检测证实为CADASIL的病例。通过对该病例的分析,增加对CADASIL炎性病理生理机制的新认识并提高疾病的诊疗水平。Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL)is an inherited small vessel disease,manifesting as recurrent ischaemic events,migraine with aura and cognitive decline.Multiple sclerosis(MS)is an autoimmune disease characterized by white matter demyelination in the central nervous system,and positive oligoclonal band is an important diagnostic basis for this disease.There are many similarities between the two diseases in clinical manifestations and imaging,which are easy to cause misdiagnosis.A case of CADASIL confirmed by genetic testing more than 10 years after the initial diagnosis of MS with a positive oligoclonal band is reported.The analysis of this case is conducted to improve the new understanding of the inflammatory pathogenesis of CADASIL and increase the level of disease diagnosis and treatment.

关 键 词：多发性硬化 CADASIL 寡克隆区带 NOTCH3基因 

分 类 号：R743[医药卫生—神经病学与精神病学]