CADASIL一家系报告并国内文献复习

发布时间：2018-05-28 23:51

本文选题：CADASIL + 临床特点　；参考：《兰州大学》2016年硕士论文

【摘要】：目的:本研究回顾性分析甘肃省1家系2例CADASIL患者的临床资料并进行文献复习,旨在加深临床医生对本病的认识,从而减低漏诊率及误诊率,使更多患者在早期能得到及时有效的诊治和护理,从而能够改善CADASIL患者的预后。资料和方法:报告兰州大学第二医院神经内科诊治的CADASIL患者的临床资料2例,并以“伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病”和“CADASIL”为关键词在国内三个资料相对较全,范围较广的数据库:CNKI数据库、维普及万方数据库里进行文献检索(截止到2015年12月),共获取确诊的71例CADASIL病例资料,加上我们回顾分析的1家系2例病例,共73个病例,整理并分析所有患者的发病年龄、临床症状、脑血管病危险因素、实验室检查、影像学表现、CADASIL量表、病理和基因检测结果。结果:⑴病例报告,先证者,男,43岁,甘肃省天水市人,因“右侧肢体无力、言语不利4月余”入院;病程为7年,期间反复发作缺血性脑卒中,且无高血压、糖尿病、高脂血症、高胆固醇血症等动脉硬化性危险因素;头颅MRI提示:双侧半卵圆中心可见多发性脱髓鞘病灶,双侧基底节区、半卵圆中心出现大量多发陈旧性梗塞病灶;CADASIL量表评分15分;皮肤病理活检示:嗜锇颗粒(GOM)沉积;基因检测提示:NOTCH3基因4号外显子错义突变。先证者之兄,其首发症状为偏头痛,病程期间先兆性偏头痛、缺血性脑卒中反复发作,并逐渐出现记忆力减退和情绪急躁;头颅CT:皮质下动脉硬化性脑病,双侧脑室可见多发性腔梗灶,脑萎缩;CADASIL量表评分17分;基因检测提示:NOTCH3基因4号外显子错义突变;47岁时卧床不起,病故于肺部感染,病程34年。两名患者最后均确诊为CADASIL。⑵文献复习,报道病例71例及我院收治的2例共73例,男性39例(53.42%),女性为34例(46.58%),平均发病年龄:39.26±11.54岁,男性的平均发病年龄:36.89±10.00岁,女性为41.85±12.66岁。68例(93.15%)患者均无高血压、高脂血症、糖尿病、高胆固醇血症等脑血管病的传统危害因素。60例(82.19%)有明确的家族史。73个病例的常见临床表现依次为脑缺血性卒中/TIA共50例(68.49%),认知障碍33例(45.21%),偏头痛23例(31.51%),精神症状15例(20.55%),癫痫发作2例(2.74%)、听力障碍1例(1.37%)、急性意识障碍1例(1.37%),另有3例(4.11%)患者无任何临床表现。70名患者的头颅MRI显示累及区域依次为:基底神经节区41例(58.57%)、颞叶白质区23例(32.86%)、额叶白质区20例(28.57%)、顶叶白质区18例(25.71%)、放射冠17例(24.29%)、脑干16例(22.86%)、半卵圆中心15例(21.43%)、侧脑室12例(17.14%)、丘脑9例(12.86%)、外囊7例(10%)、枕叶白质区6例(8.57%)、胼胝体3例(4.29%)、小脑2例(2.86%)、扣带回1例(1.43%)、岛叶1例(1.43%)、弓形纤维1例(1.43%)、大脑脚1例(1.43%)。73名患者中有48例是经病理检查确诊,49例是经基因检测确诊,其中24例是经病理检查和基因检查共同确诊的,其中有2名患者的病理检查是阴性,但NOTCH3基因的检测发现突变;49名患者常见的突变位点依次为4外显子25例(51.02%)、3外显子15例(30.61%)、11外显子6例(12.24%)、14外显子1例(2.04%)、18外显子1例(2.04%)及3内含子1例(2.04%)。结论:1.我国CADASIL患者多于中青年期起病,常有明确的家族史,且一般无脑血管病的传统危险因素;最常见的临床表现为脑卒中、认知能力减退及痴呆;头颅MRI显示多发性腔隙性梗塞灶和弥漫性脑白质病变,主要累及区域为基底节、颞叶、额叶和顶叶白质区等。2.CADASIL量表可作为一种简单有效的筛查工具应用于临床诊断。3.确诊该病需病理检查或(和)基因检测,并且二者具有较高的一致性,临床上常用的脑外组织活检为皮肤肌肉活检。4.CADASIL的责任基因是位于第19号染色体短臂上的NOTCH3基因,国内患者N OTCH3基因突变的热点依次是4、3、11号外显子。5.CADASIL为一种特殊的常显性遗传的脑血管病,尚无特殊治疗,预后差。
[Abstract]:Objective: To review and analyze the clinical data of 2 cases of CADASIL in 1 families in Gansu province and review the literature. The purpose of this study is to deepen the understanding of the disease by clinicians so as to reduce the rate of missed diagnosis and misdiagnosis, so that more patients can get timely and effective diagnosis and treatment and nursing, and can improve the prognosis of CADASIL patients. The clinical data of 2 patients with CADASIL in the Department of Neurology in Second Hospital Affiliated to Lanzhou University were reported. With the key words of "autosomal dominant hereditary cerebral arteriopathy with subcortical infarction and white encephalopathy" and "CADASIL" as the key words, the data base of the three data in China was relatively wide and wide: the CNKI database, VIP and Wanfang database A total of 71 confirmed cases of CADASIL cases were obtained by literature retrieval (until December 2015). A total of 73 cases, including 2 cases in 1 families, were reviewed and analyzed. The age of onset, clinical symptoms, risk factors of cerebrovascular disease, laboratory examination, imaging performance, CADASIL scale, pathology, and gene detection results were analyzed and analyzed. Results: (1) case report, first evidence, male, 43 years old, Tianshui people in Gansu Province, hospitalized for "the right limb weakness, unfavourable speech of 4 months"; the course was 7 years, and repeated episodes of ischemic stroke, without hypertension, diabetes, hyperlipidemia, hypercholesterolemia and other atherosclerotic risk factors; head MRI hints: bilateral hemicovale center can be See multiple demyelinating lesions, bilateral basal ganglia, and semi oval center appear a large number of multiple old infarcts; CADASIL scale score 15; skin pathological biopsy: osmium granules (GOM) deposition; gene detection: NOTCH3 gene 4 exon missense mutation. The first syndrome of the first syndrome is migraine, and the premonitory deviation during the course of the disease Headache, recurrent episodes of ischemic stroke, and progressive memory impairment and emotional irritable; head CT: subcortical arteriosclerotic encephalopathy, bilateral ventricles of cerebral infarction, cerebral atrophy, CADASIL scale score 17; gene detection: NOTCH3 gene 4 exon missense mutation; 47 years old in bedridden, sick in the lung infection, disease, disease, disease, disease The last 34 years. Two patients were finally diagnosed as CADASIL. (2) literature review, reported that 71 cases and 2 cases in our hospital were 73 cases, 39 men (53.42%) and 34 women (46.58%). The average age of onset was 39.26 + 11.54 years, the average age of male was 36.89 + 10 years, and the women were none of hypertension and high fat. The traditional risk factors of cerebral vascular disease such as hypercholesterolemia, diabetes, hypercholesterolemia,.60 cases (82.19%) there was a clear family history of.73 cases, the common clinical manifestations were cerebral ischemic stroke in 50 cases (68.49%), cognitive impairment in 33 cases (45.21%), migraine 23 cases (31.51%), 15 cases of mental symptoms (20.55%), 2 cases of epileptic seizures (2.74%), hearing impairment 1 Cases (1.37%), 1 cases of acute disturbance of consciousness (1.37%), and 3 cases (4.11%) without any clinical manifestation of.70, the area of MRI in the head was followed by the basal ganglia area 41 cases (58.57%), the temporal lobe white matter 23 cases (32.86%), the white matter area of the frontal lobe 20 cases (28.57%), the white matter of the parietal lobe (25.71%), the radial crown 17 cases, the brainstem cases, 15 cases (21.43%), 12 cases (17.14%) of lateral ventricle, 9 cases of thalamus (12.86%), 7 cases of outer capsule (10%), 6 cases of white matter in occipital lobe (8.57%), 3 cases of corpus callosum (4.29%), 2 cases of cerebellum (4.29%), recurrent cases of cingulate gyrus, cases of arched fiber dimension,.73 patients were confirmed by pathological examination. 24 of them were confirmed by the pathological examination and gene examination, of which 2 were negative, but the NOTCH3 gene was detected. The common mutation sites in 49 patients were 4 exon 25 (51.02%), 3 exon 15 (30.61%), 11 exon (12.24%), 14 exons in 6. 1 cases (2.04%) and 3 introns (2.04%) were found. 1. in China, there were more CADASIL patients in China than in the middle and young patients. They often have a clear family history and usually have no traditional risk factors for cerebrovascular disease. The most common clinical manifestations are cerebral apoplexy, cognitive impairment and dementia; head MRI shows multiple lacunar infarcts and diffuse white matter disease. .2.CADASIL scales, such as basal ganglia, temporal lobe, frontal and parietal white matter area, can be used as a simple and effective screening tool for clinical diagnosis of.3., which requires pathological examination or (and) gene detection, and the two have high consistency. The common biopsy of external brain tissue on the bed is the skin muscle biopsy.4.CAD. The ASIL gene is the NOTCH3 gene located on the short arm of chromosome nineteenth. The hot spot of N OTCH3 mutation in domestic patients is 4,3,11 exon.5.CADASIL as a special and frequently inherited cerebrovascular disease. There is no special treatment, and the prognosis is poor.
【学位授予单位】：兰州大学
【学位级别】：硕士
【学位授予年份】：2016
【分类号】：R743

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