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疾病临床和MRI特征分析：附病例报道.pdfVIP

·2111· ·个案报告· 伴有皮质下梗死和白质脑病的常染色体显性遗传性 脑动脉疾病临床和MRI特征分析：附病例报道 赵 勇，王帅帅，李法强，纪艾玲 【摘要】 目的 探讨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疾病（CADASIL）的临床表现和 MRI特点。方法 对1例CADASIL 患者进行影像学检查、基因检测和皮肤活检，综合分析其临床和影像学特点。结果 患者表现为脑卒中发作，先兆性偏头痛。影像学特点为多发皮质下梗死灶，侧脑室旁白质多发斑点状异常信号，外 囊、前颞区和胼胝体为特征性受累部位。基因检测为Notch3基因第4 号外显子上c.400T＞G 突变。皮肤活检可见颗粒 样嗜锇物质（GOM）沉积。结论 CADASIL 临床表现主要为缺血性卒中、认知障碍、偏头痛及精神症状。MRI特征性 改变是颞极白质T2 的异常高信号。 【关键词】 脑动脉疾病；遗传学；基因；突变；疾病特征；磁共振成像 【中图分类号】R596 R743 【文献标识码】D doi：10.3969/ j.issn.1007 -9572.2015.17.031 赵勇，王帅帅，李法强，等. 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疾病临床和MRI特征分 析：附病例报道［J］. 中国全科医学，2015，18 （17）：2111-2113. ［］ ZhaoY，WangSS，LiFQ，etal. ClinicalandMRI eatureso CADASIL：acasereport ［J］. ChineseGeneralPractice， 2015，18 （17）：2111-2113. Clinical and M I Features of CADASIL：A Case eport ZHAO Yong，WANG Shuai -shuai，LI Fa -qiang，et al. Department o Radiology，the Third People′s Hospital o Xuzhou，Xuzhou221000，China 【Abstract 】 Objective To investigate the clinical maniestations and MRI eatures o cerebral autosomal dominant arteriopathy with subcortical inarcts and leukoencephalopathy （CADASIL）. Methods A systematic study o one case on imaging examination，genetic test and skin biopsy was perormed，in order to analyze the clinical and imaging characteristics. esults The clinical maniestations o the proband were stroke and migraine with aura. MRI showed multiple subcortical inarcts，multiple punctate abnormal signals in the white matter o lateral ventricle，and a ected areas being capsula externa， anterior temporalareaandcorpuscallosum. Genetictestingshowedc.400T＞Gmutationintheexon4 o theNotch3gene. Skin biopsies showed the deposit o granular osmiophilic material （GOM）. Conclusion Ischemic stroke，cognitive dysunction， migraine and mental symptoms are the common clinical maniestations o CADASIL. The c