以孤立性眩晕为首发症状的CADASIL一家系报告及文献复习  

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with initial symptom of isolated vertigo:A family case report and literature review

作　　者：王志晔 张作念 倪梦园 陆兆敏 潘锡近[2] 吴迪[3] 王燕娟[3] 刘杨 WANG Zhiye;ZHANG Zuonian;NI Mengyuan(Department of Neurology,Nanjing Meishan Hospital,Nanjing 210039,China)

机构地区：[1]南京梅山医院神经科,江苏南京210039 [2]南京大学附属鼓楼医院神经内科,江苏南京210000 [3]东南大学附属中大医院神经内科,江苏南京210000

出　　处：《中风与神经疾病杂志》2023年第6期549-552,共4页Journal of Apoplexy and Nervous Diseases

摘　　要：目的分析以孤立性眩晕为首发症状的伴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)一家系的临床资料。方法总结1例CADASIL患者的临床表现、影像学、病理、基因检测结果和CADASIL量表评分,并进行家系调查。结果本例先证者以反复发作的孤立性眩晕起病,逐渐出现情绪障碍。头部磁共振(MRI)FLAIR像提示双侧大脑半球皮质下广泛白质变性,双侧颞极、外囊可见特征性异常高信号,双侧脑干可见少许异常高信号,双侧放射冠、基底节区多发腔隙性脑梗死。CADASIL量表评分为16分。皮肤活检病理提示血管平滑肌周围电子致密嗜饿颗粒物质(GOM)沉积。基因检测结果提示NOTCH3基因c.1163G>A(p.C388Y)位点杂合突变。先证者姐姐也表现为孤立性眩晕,经基因检测存在相同突变,其父亲和叔叔均因脑梗死死亡,大姑为严重痴呆,三者发病早期均有头晕症状。结论CADASIL具有临床异质性,可以主要表现为孤立性眩晕。头部MRI颞极、外囊异常信号对该病诊断有重要价值,确诊需病理检查,基因检测可以进一步明确诊断及筛查其他家系成员。Objective To investigate the clinical data of a family diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL)with isolated vertigo as the initial symptom.Methods The clinical manifestations,imaging findings,pathology,genetic testing results,and CADASIL scale score of a patient with CADASIL were summarized,and a family investigation was conducted.Results The proband of this case experienced recurrent isolated vertigo and gradually developed emotional disorder.Cranial magnetic resonance imaging(MRI)FLAIR revealed extensive subcortical white matter degeneration in both hemispheres,characteristic abnormal hyperintensity in bilateral temporal poles and external capsules,abnormal hyperintensity in bilateral brainstems,and multiple lacunar infarctions in bilateral corona radiata and basal ganglia.The score of CADASIL scale was 16 points.Skin biopsy showed the deposition of electron-dense granular osmiophilic material around vascular smooth muscle.Genetic testing identified a heterozygous mutation of c.1163G>A(p.C388Y)in the NOTCH3 gene.The elder sister of the proband also had isolated vertigo and was found to have the same mutation by genetic testing.The father and uncle of the proband died of cerebral infarction,while the aunt of the proband suffered from severe dementia,and all of them had experienced dizziness in the early stage.Conclusion CADASIL has clinical heterogeneity and can manifest as isolated vertigo.Abnormal signals in temporal poles and external capsules on cranial MRI have an important value in the diagnosis of this disease,while pathological examination is required to make a confirmed diagnosis,and genetic testing can further clarify the diagnosis and perform screening of other family members.

关 键 词：伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病 孤立性眩晕 基因突变 

分 类 号：R743[医药卫生—神经病学与精神病学]