摘要：
Objective To study clinical and imagining features of a case of cerebral autonomic dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)with bilateral cerebellar and genu of corpus callosum infarction.Methods A 78 years old female patient who was suspected of CADASIL undergoes testing for clinical manifestations,imaging and laboratory examination,collecting neuropsychological assessment.After obtaining the patient's informed consent,NOTCH3 gene and skin biopsy were detected,then checked it with her family members.Results The initial symptoms of patients were memory loss,old onset age,accompanied by apathy,gait instability,urinary dysfunction,no migraine.Magnetic resonance imaging revealed extensive demyelination of the white matter.Thalamus,genu of corpus callosum,bilateral basal ganglia region and bilateral cerebellar hemisphere showed old cerebral infraction.Detection of NOTCH3 gene exon 11 showed c.1630C＞T missense mutation,P.R544C.Conclusion The onset age of the CADASIL patient was 75 years old,and the first symptom was memory loss.Lacunar infarction not only involved the thalamus,basal ganglia,also involved the cerebellum.The corpus callosum was one of the characteristic imaging manifestations of CADASIL.%目的 报道1例影像学上表现为双侧小脑和胼胝体膝部梗死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(Cerebral autonomic dominant arteriopathy with subcortical infarcts and leucoencephalopathy CADASIL),探讨CADASIL的临床及影像学表现.方法 对1例疑诊为CADASIL的78岁女性患者进行临床表现、影像学检查及实验室检查,神经心理测评的收集,取得患者知情同意后对其进行NOTCH3基因检测和皮肤活检,并对家系成员进行验证分析.结果 患者首发症状为记忆力减退,起病年龄较大,伴有情感淡漠、步态不稳、小便功能障碍,无偏头痛,头颅磁共振见广泛的脑白质脱髓鞘,丘脑、胼胝体膝部、双侧基底节、双侧小脑半球多发陈旧性腔隙性脑梗死,NOTCH3基因检测发现11号外显子存在c.1630C＞T错义突变,即p.R544C.结论 本例CADASIL患者的起病年龄75岁,首发症状为记忆力减退,腔隙性脑梗死不仅累及丘脑、基底节,同样也可以累及小脑.胼胝体全层梗死为CADASIL的特征性影像表现之一.
