CAJ | 학술논문

目的提高对常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病(CADASIL)的颅脑MRI表现的认识.方法对一家系2代5例患者进行头颅常规MR和MR血管成像(MRA)检查.对经Notch3基因检查或皮肤组织活检超微病理检查确诊的3例和经MRI与临床诊断的1例CADASIL的MRI资料进行分析.结果 MR检查的5例中4例CADASIL均获得明确诊断,1例排除诊断.4例CADASIL均见两侧颞叶、额叶和顶叶大致对称性皮层下与侧脑室旁白质病灶,呈长T1、长T2信号,但枕叶累及甚少且皮层不受累;O'Sullivan征阳性4例,皮层下腔隙性损害(SLLs)征阳性2例;3例半卵圆中心可见多发圆形或卵圆形囊性梗死即"黑洞",4例均见多发圆点状血管周间隙即"胡椒罐盖"样征象;4例全部显示胼胝体单发或多发斑片状显著长T1、长T2信号,其中2例伴萎缩;内囊前肢与外囊均受累,呈"人"字征;基底节和脑干可见单发或多发陈旧性腔隙性梗死灶;1例伴右侧小脑小片状梗死灶;4例全部有轻度至中度的脑干、小脑和大脑萎缩;MRA颅内Ⅰ-Ⅲ级较大动脉均未见明显异常.结论 CADASIL的颅脑MRI表现具有一定的特征性,可为CADASIL的初诊和筛选提供重要依据.
목적 제고대상염색체현성유전성뇌동맥병반피층하경사화백질뇌병(CADASIL)적로뇌MRI표현적인식.방법 대일가계2대5례환자진행두로상규MR화MR혈관성상(MRA)검사.대경Notch3기인검사혹피부조직활검초미병리검사학진적3례화경MRI여림상진단적1례CADASIL적MRI자료진행분석.결과 MR검사적5례중4례CADASIL균획득명학진단,1례배제진단.4례CADASIL균견량측섭협、액협화정협대치대칭성피층하여측뇌실방백질병조,정장T1、장T2신호,단침협루급심소차피층불수루;O'Sullivan정양성4례,피층하강극성손해(SLLs)정양성2례;3례반란원중심가견다발원형혹란원형낭성경사즉"흑동",4례균견다발원점상혈관주간극즉"호초관개"양정상;4례전부현시변지체단발혹다발반편상현저장T1、장T2신호,기중2례반위축;내낭전지여외낭균수루,정"인"자정;기저절화뇌간가견단발혹다발진구성강극성경사조;1례반우측소뇌소편상경사조;4례전부유경도지중도적뇌간、소뇌화대뇌위축;MRA로내Ⅰ-Ⅲ급교대동맥균미견명현이상.결론 CADASIL적로뇌MRI표현구유일정적특정성,가위CADASIL적초진화사선제공중요의거.
Objective To recognize the cranial MRI appearance in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL). Methods Five patients with CADASIL from two generations in a family underwent routine MRI and MRA examinations.Three patients with CADASIL were confirmed by the Notch3 genetic testing and the vascular pathological Results and one was diagnosed on basis of MR and clinical manifestations. The imaging data from 4 patients with CADASIL were analyzed.Results Four cases achieved preliminary diagnosis of CADASIL and one was excluded by MRI.In 4 patients with CADASIL,bilateral symmetrical,confluent white matter lesions in the subcortical and Deriventricular regions were seen frequently in the temporal,frontal and parietal lobes,but the occipital lobes were less involved.These lesions appeared as long T1 and long T2 signal.O'Sul]ivan sign was shown in all cases and subcortical lacunar lesions was seen in 2 cases. In the centrum semiovale,well-defined,round or oval cystic infarcts(black holes)were demonstrated in 3 cases and multiple tiny round enlarged perivascular spaces(pepperpot appearance)in all cases.The corpus callosum was involved in all cases,and it was evidently atrophic in 2 cases.The anterior part of internal capsule and external capsule were were present in the basal ganglia and brainstem. Only one case revealed a small infarct in the right cerebellum. Four Datients shared mild or moderate atrophy of brainstem, cerebellum and cerebrum. No marked abnorillalitv of large vessels was seen in all cerebral MRA. Conclusions The cranial MRI appearance in CADASIL shows some characteristics.MRI may give some infotznation in the preliminary diagnosis or exclusion of CADASIL.