5个CADASIL家族的核磁共振改变特点

目的　分析来自5个CADASIL家族中8名患者的核磁共振(MRI)表现,总结病变不同时期的MRI变化规律及其诊断价值。方法　研究对象为经过超微病理和Notch3基因检查确诊的5个CADASIL家族中的8个患者,均在成年早期发病,主要表现为反复发作的缺血性卒中和进行性痴呆。对先证者1及其母亲、先证者2及其哥哥、姐姐,先证者3、4和5 ,总计8名患者进行了头部MRI检查,其中4名进行了MRI血管成像检查。结果　8名患者的头部MRI均显示多发腔隙性脑梗死,病灶主要分布在基底节、丘脑和脑室旁白质,6例患者出现了外囊梗死,4例出现了胼胝体梗死,3例出现了脑桥梗死。所有8例患者均存在双侧大脑半球多灶性或弥漫性白质疏松,1例患者MRI确诊1年后随访显示多灶性白质病变进展为弥漫性损害,5例患者出现了双侧颞极等T1 长T2 信号。4例患者的头部MRI血管成像检查未见异常。结论　基底节、丘脑和脑室旁白质是CADASIL腔隙性脑梗死的好发部位,外囊和胼胝体梗死以及双侧颞极长T2 信号对本病具有较高的诊断价值。脑干受累可以出现在病程早期,而白质病灶分布形式的变化可以反映病情的进展。

MRI features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in 5 Chinese families

Objectives To describe MRI features in 5 Chinese CADASIL families.Methods All the 8 patients came from 5 different CADASIL families,which were diagnosed on the vascular pathological results and Notch3 genetic findings.All the patients developed symptoms in early adults with recurrent ischemic attack and/or progressive dementia.MRI examinations were performed in the index case 1 and his mother,the index case 2,as well as her sister and elder brother,the index 3,4 and 5.Results Lacunar infarcts were noted in thalamus,basal ganglia and periventricular white matter in all 8 patients,external capsule in 6 cases,corpis callosum in 4 cases and brain stem in 3 cases.Bilateral,multifocal or diffusive leukoaraiosis were found in cerebral white matter in all 8 patients,of whom hyperdensity in bilateral temporal poles were detected on T 2 weighted image in 5 cases.MRA were unremarkable in 4 examined patients.During a one-year followup in index case 3,it was noted that leukoaraiosis progressed from a multifocal to more diffusive pattern.Conclusions Lacunar infarcts were commonly found in thalamus,basal ganglia and periventricular white matter in CADASIL.Our result could confirm that the infarcts in external capsule and corpis callosum as well as hyperintensity of temporal poles are MRI markers for diagnosis of CADASIL,but not appeared in all cases.Brain stem may be affected in early stage of the disease.The change of Leukoaraiosis is in keeping with the development of the disease.