常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病家系的临床随访研究

目的通过3个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)家系的临床随访,分析CADASIL表型差异。方法选择2012～2015年徐州医科大学附属医院就诊的3个CADASIL家系的7例患者,进行NOTCH3基因的检测,分析临床症状及影像学检查结果,并完成3年左右的随访。结果家系1(p. C67S)的首发症状多为无先兆偏头痛,并可在头痛10年后发生缺血性卒中;家系2(p. G149V)均为头晕起病,早期即出现认知障碍及球麻痹;家系3(p. R182C)表现为缺血性卒中反复发作。随访发现影像学表现与病情进展基本一致,但个体化特征明显。结论 CADASIL早期症状无特异性易被误诊,家系间及家系内患者的表型及病程演变各有不同,影像学检查对早期诊断敏感性高,却不能完全反映病情的变化。

Clinical follow-up study of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Objective To analyse the phenotypic differences and explore the possible interventions through clinical follow-up of three families of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) for about three years.Methods Seven patients from three CADASIL families in Affiliated Hospital of Xuzhou Medical University from 2012 to 2015 were studied. The NOTCH3 gene was detected in seven patients; the symptoms and imaging were also analyzed. The follow-up period was about three years.Results Family 1(p.C67S):most of the first symptoms were migraine without aura, some may have ischemic stroke after 10 years of headache; family 2(p.G149V):all patients had dizziness onset, cognitive impairment and pseudobulbar paralysis in the early stage; family 3(p.R182C):showed recurrent ischemic stroke. During the follow-up, it was found that the imaging findings were mostly consistent with the progress of the disease, and the course of the disease was distinctly individualized.Conclusions Early symptoms of CADASIL are non-specific and easy to be misdiagnosed. The phenotype and course of the disease vary from person to person. Imaging examination is highly sensitive to early diagnosis, but it cannot accurately reflect the changes of the disease.