合并胼胝体腔隙性梗死的脑梗死患者临床分析

目的 观察胼胝体腔隙性梗死的l临床及影像学表现.方法 收集连续入住我院并行颅脑MR检查的脑梗死患者276例.结果 20例(7.2%)脑梗死患者的颅脑MRI显示有胼胝体腔隙性梗死灶.胼胝体腔隙性梗死大部分呈"指状",起自胼胝体下缘,伸入胼胝体内;少数病灶呈"小山丘状".结论 胼胝体腔隙性梗死并非罕见.胼胝体腔隙性梗死的形态与多发性硬化的胼胝体病灶相似,应注意鉴别.胼胝体腔隙性梗死也不是CADASIL的影像学特征,诊断时应注意综合分析.     

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。     

常染色体显性遗传脑动脉病(附1例报告及文献复习)

目的报道常染色体显性遗传脑动脉病(CADASIL)病例,加深对CADASIL的认识。方法报道1例以偏头痛为首发症状、皮质下梗死和白质脑病为主要临床表现的CADASIL病例,回顾性分析患者的临床和影像学资料、对患者及其女儿行NOTCH3基因、HTRA1基因突变热区基因测序和家系调查结果,并结合文献复习进行讨论。结果患者女性,59岁。因头痛34年,认知功能障碍11年加重,伴意识障碍2 h入院。头颅CT、MRI示左侧额颞叶数个急性期腔隙性梗死灶,双侧小脑半球、脑干、双侧大脑半球多发对称性异常信号,考虑脑白质病,血管性病变所致?基因测序提示NOTCH3基因第4、18外显子突变、HTRA1基因第8外显子突变。结论偏头痛为CADASIL的常见首发临床表现,NOTCH3基因突变是中国CADASIL患者的主要突变基因,临床应结合病程及家族发病情况综合考虑,基因检测可协助明确诊断。     

丘脑静脉性梗死的临床和影像学分析

目的探讨丘脑静脉性梗死的临床和影像学表现,以提高对该病的认识。方法 8例经临床证实为静脉窦血栓引起的丘脑静脉性梗死,收集其临床及影像学资料并进行回顾性分析。结果 8例患者均进行MRI平扫、DWI和SWI检查,均经DSA确诊。5例双侧丘脑、基底节区长T_1长T_2信号;1例双侧丘脑长T_1长T_2信号,伴胼胝体膝部短T_1信号;1例双侧丘脑、基底节区长T_1长T_2信号,伴右侧丘脑短T_1信号;1例双侧丘脑稍长T_1稍长T_2信号,并累及右侧基底节区和中脑,DWI呈高信号,ADC呈稍低信号。1例胼胝体膝部、1例右侧丘脑SWI图像上为低信号出血,2例梗死区内灶状出血。MRV与DSA检查结果相一致,5例为双侧横窦、上矢状窦、直窦、窦汇血栓形成;1例为双侧横窦、上矢状窦、直窦、大脑大静脉血栓形成;1例为右侧横窦、乙状窦血栓形成;1例为右侧横窦、直窦血栓形成。结论临床上遇到双侧丘脑病变,要考虑静脉性梗死的可能。MRI平扫联合MRV是静脉窦血栓引起的丘脑静脉性梗死诊断及随访的首选检查方法。SWI可清晰显示微出血,是MRI平扫和MRV极好的补充。     

伴皮质下梗死和白质脑病的常染色体显性遗传脑动脉病1例家系报道并文献复习

目的 探讨伴皮质下梗死和白质脑病的常染色体显性遗传脑动脉病(CADASIL)的临床特点、影像学特征、诊断标准、治疗现状以及预后。方法 对1个经NOTCH3基因检测确诊CADASIL家族中的2例患者进行研究,总结其家族史、临床表现及头颅MRI特征,并对国内外相关文献进行系统复习。结果 先证者是1例66岁女性患者,因“认知功能进行性减退5年”就诊,既往有反复发作的头痛、头晕病史11年,其母有“血管性痴呆”病史,其头颅MRI提示“颅内多发的腔隙性脑梗死、脑微出血以及脑白质病变”; 外囊及双侧颞极为特征性受累部位。患者女儿29岁开始间断出现头晕、头痛,34岁与患者同时接受头颅MRI评估提示“累及双侧颞极的脑白质病变”。先证者及其女儿行基因检测均发现NOTCH3基因4号外显子突变。结论 CADASIL为常染色体显性遗传的脑小血管病,临床表现包括反复发作的缺血性脑卒中或TIA、偏头痛、精神障碍、认知功能减退。头颅MRI表现有一定特征,NOTCH3基因检测、皮肤活检是确诊本病的金标准。     

无症状性脑梗死的螺旋CT表现及临床分析

目的研究无症状性脑梗死螺旋CT表现及临床特点。方法对急性脑卒中患者及健康体格检查中的受检对象进行螺旋CT检查,以发现确认陈旧性梗死灶,并询问病史以排除以往有症状性脑卒中,同时进行影像学分类及病因追查。结果影像学改变分为两类:一类是无症状性腔隙性脑梗死,占82.4%;另一类是无症状性小梗死,占17.6%。梗死部位多在基底节、内囊、脑干、小脑。其病因主要是高血压、脑动脉硬化症、糖尿病及冠心病伴房颤等。结论无症状性脑梗死以腔隙性梗死为多,认为影像学是确认无症状性脑梗死的唯一检查方法。对高危因素的老年人进行普查和积极对因治疗对预防无症状性脑梗死或症状性脑梗死有重要临床价值。     

胼胝体变性六例影像学特点和临床表现

目的 探讨胼胝体变性(Marchiafava-Bignami disease,MBD)的影像学特点和临床表现.方法 对我院诊治的6例MBD患者进行回顾性分析,包括影像学检查(如头颅CT、MRI)、实验室检查、临床症状和随访情况.结果 6例患者MRI检查均表现为胼胝体肿胀及T1WI等或低信号,T2WI高信号,液体衰减反转恢复序列高信号,弥散加权成像示弥散受限.其中例1、例4和例6以急性意识障碍起病,CT和MRI检查除累及整个胼胝体外双侧半卵圆区也受累,预后较差.例2和例3以反应迟钝、记忆力下降起病,CT和MRI检查病变主要累及胼胝体膝部和压部,经积极治疗,患者基本恢复正常.例5以双下肢麻木无力、反应迟钝起病,MRI检查病变累及胼胝体压部及体部,经治疗后也恢复正常.结论 MBD临床表现复杂,但具有特征性影像学表现,其起病形式和影像学特征可作为反映其预后的重要因素之一.     

合并脑出血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

目的分析2例合并脑出血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 autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy,CADASIL)的临床、影像学特征及危险因素。方法收集2例合并脑出血CADASIL患者的临床资料,并行常规头颅MRI、磁敏感加权成像(susceptibility-weighted imaging,SWI)扫描。结果 2例患者均伴有高血压、未接受抗栓药治疗。脑出血分别位于外囊和枕叶。2例患者均伴多发微出血灶(31个和131个)、多发腔隙、脑白质脱髓鞘。其中1例患者脑出血为首发症状,另1例患者伴认知功能减退。结论 CADASIL患者不仅表现为缺血性卒中,而且可合并脑出血,部分患者以脑出血为首发症状。应积极管理患者的血压。     

急性双侧对称性脑梗死的发病机制探讨

目的探讨急性双侧对称性脑梗死的发病机制。方法回顾性总结19例单纯位于幕上或幕下的急性双侧对称性脑梗死患者的临床及影像学资料,结合改良TOAST分型,探讨其可能的发病机制。结果急性双侧对称性脑梗死常见部位有胼胝体、分水岭区、丘脑、脑叶、脑干和小脑;其危险因素与一般脑梗死相同,部分患者可有血流动力学异常的诱因;发病机制包括血栓形成、心源性或动脉源性栓塞、低灌注、穿支动脉病以及多重发病机制的相互作用,分水岭区的双侧梗死常与低灌注有关,胼胝体、丘脑、脑干、小脑的双侧梗死应考虑到血管解剖变异存在的可能。结论急性双侧对称性梗死的发病机制复杂,相关发病危险因素或诱因、梗死灶分布以及血管检查可为探讨其发病机制提供参考依据。     

表现为家族性偏头痛的CADASIL家系的影像学特点

目的探讨伴皮层下梗死和白质脑病的常染色体显性遗传性脑病(CADASIL)家系的核磁共振(MRI)特点,提高对本病脑内MRI表现的认识。方法记录该CADASIL家系先证者及其亲属的临床表现及影像学检查,并行NOTCH3基因检测。结果本组6例中5例检出NOTCH3基因第14外显子C2182T突变,其中3例与MRI初诊结果一致。头颅核磁共振显示双侧额叶皮层下与侧脑室旁白质内广泛融合的病灶,基本对称性分布的稍长T1T2信号,T2FLAIR呈高信号者4例;外囊T2WI呈高信号3例;基底节区、丘脑腔隙性梗死4例;脑干T2WI呈高信号2例;脑内微出血3例;未见双侧颞极白质病灶(O’Sullivin征)。结论 CADASIL病例MRI存在特征性的病变,MRI对该病的诊断有重要作用。     

Memory deficits after bilateral anterior fornix infarction

The authors report a patient who suddenly developed memory loss without any other focal neurologic deficits. Neuropsychological testing showed severe anterograde verbal and visual memory deficits that improved gradually over several months, but not to the point of the premorbid state. Brain MRI with diffusion-weighted imaging performed 3 days after onset revealed acute infarction involving the bilateral fornices and the right genu of the corpus callosum. The authors suggest that acute fornix infarction may cause anterograde memory deficits.     

Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

The phenotype and genotype of cerebral autosomal dominant arteriopathy and subcortical infarcts and leukoencephalopathy (CADASIL) in Caucasians have been well characterized, but CADASIL is less recognized in Asian populations. Here we investigated the first known Taiwanese family affected by CADASIL and identified an uncommon NOTCH3 mutation. The family had clinical manifestations in affected members including recurrent strokes, early dementia, and depression, but not migraine. A skin biopsy in the proband patient showed characteristic pathological findings of CADASIL on electron microscopy. Afterward, genetic analysis found an Arg332Cys mutation at exon 6 of NOTCH3. Neuropsychological evaluation showed vascular dementia in two of four affected people. Head MRI showed multiple infarcts in bilateral basal ganglia, thalami, periventricular white matter, external capsules, and brainstem, but involvement of the anterior temporal pole was found only in two people with milder symptoms. To our knowledge, the Arg332Cys NOTCH3 mutation at exon 6, which was identified in the studied family, has not been reported in Asian populations. Our findings emphasize the importance of genetic analysis of NOTCH3 for Asians with a phenotype typical of CADASIL.     

R558C NOTCH3 Mutation in a CADASIL Patient with Intracerebral Hemorrhage: A Case Report with Literature Review

BackgroundCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic cerebral small-vessel disease, which is characterized by migraine, recurrent ischemic strokes, psychiatric disorder, progressive cognitive decline, and occasionally intracerebral hemorrhage (ICH). ICH events have been reported in a high proportion of East Asian CADASIL patients with R544C mutation in exon 11 of NOTCH3; however, whether any other specific NOTCH3 mutation determines the ICH phenotype has yet to be explored.Case presentationWe report the case of a 60-year-old male CADASIL patient with a novel R558C mutation in exon 11 of the NOTCH3 gene, who presented with ICH in the basal ganglia and cerebellum. Brain imaging revealed multiple confluent white matter hyperintensities and abundant cerebral microbleeds (CMBs) in the bilateral basal ganglia, thalamus, and cerebellum. The patient had been having recurrent ischemic strokes prior to this ICH event, and had taken antiplatelet and antihypertensive agents for six months. We analyzed the possible reasons for ICH onset in the patient to recommend certain guidelines for the clinic.ConclusionsNovel R558C mutation-related CADASIL vasculopathy and numerous CMBs, uncontrolled hypertension, and antiplatelet therapy could collectively contribute to ICH onset in the patient with CADASIL. These findings suggest that a diagnosis of CADASIL should also be considered when patients present with ICH, whenever MRI imaging reveals typical white matter abnormalities. Furthermore, this case report emphasizes the importance of CMB assessment, appropriate blood pressure control, and cautious assessment of the risk-benefits of antiplatelet medication in patients with CADASIL.     

胼胝体梗死临床分析(附22例病例)

目的探讨胼胝体梗死的高危因素、临床表现以及影像学特点。方法对22例胼胝体梗死患者的临床资料进行回顾性分析。结果该病60～70岁为高发年龄,病因及高危因素主要为高血压病、颈动脉斑块及糖尿病。最主要的临床表现为肌力减退、失语、感觉障碍、智能障碍、小便失禁、共济失调、意识障碍等症状。胼胝体梗死部位以体部、膝部多见,常累及基底节区、额叶、顶叶、颞叶等部位。结论胼胝体梗死因其累及部位不同临床表现不同,其中颈动脉斑块为胼胝体梗死不容忽视的重要高危因素,头颅MRI对胼胝体梗死及累及部位的定位诊断有指导作用。     

以失用为主要表现的胼胝体梗死

目的探讨胼胝体梗死的临床表现、病因及鉴别诊断特点。方法对2005年7月收治的1例53岁男性胼胝体梗死患者的临床表现、影像学特点、病因机制及其治疗过程进行回顾分析。结果临床主要表现为发作性黑蒙、言语不利,既往有高血压、糖尿病、脑梗死、吸烟、饮酒史,体格检查以失用为主要表现。头部MRI检查可见左侧脑室旁、胼胝体梗死,右侧基底节、脑桥陈旧性腔隙性梗死;脑血管造影检查显示为多发性血管狭窄,其中以左侧大脑中动脉、右侧颈内动脉及基底动脉最为严重。经颈内动脉内膜剥离术及颈内动脉支架植入术治疗,临床症状缓解。结论失用可以是胼胝体梗死的主要表现,其病因是在脑动脉粥样硬化基础上的血流动力学改变,患者预后良好。     

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(附一例报告及文献复习)

目的 提高对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 autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy，CADASIL)临床特点和诊断方法的认识。方法 对2003年4月7日收治的1例CADASIKL患的临床表现、影像学特点及皮肤活检结果等临床资料进行回顾性分析。结果 主要临床表现为偏头痛、记忆力下降，头部MRI检查可见皮质下梗死、脑白质变性；皮肤活检电子显微镜显示小血管内皮下出现嗜锇酸颗粒。结论 对出现反复发作性偏头痛的中年人，MRI检查示皮质下白质或基底节区长T1、长T2异常信号，应高度怀疑为CADASIL，需进一步行皮肤活检及基因检测，以明确诊断。     

胼胝体梗死的临床研究

目的:探讨胼胝体梗死的临床特点和临床诊断应该注意的方面。方法:收集1995年至2005年住院病例中的18例胼胝体梗死患者,对其进行临床和影像(头CT或MRl)分析和统计学比较。结果:18例患者中,男11例,女7例,高血压11例、糖尿病7例、冠心病2例、高脂血症8例、高同型半胱氨酸血症1例、TIA2例、高血压合并糖尿病5例、吸烟5例、饮酒4例,4例既往无特殊病史。临床症状有偏瘫、语言障碍、智能障碍、情感障碍、感觉障碍、二便障碍、失用等。影像学示:梗死部位有膝部13例、体部7例、压部3例,膝部合并体部5例。TCD示脑动脉硬化12例、颅内血管狭窄或闭塞10例,CA示颈动脉狭窄5例、颈动脉闭塞2例。2例经DSA证实存在动脉闭塞或狭窄。结论:胼胝体梗死多有脑血管病高危因素,临床表现以偏瘫、语言障碍、智能障碍为主,梗死部位多见膝部。病因为脑动脉硬化基础上的血流动力学改变。     

An unusual case of cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy with occipital lobe involvement

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant angiopathy caused by a mutation in the notch 3 gene on chromosome 19. Clinically, patients may be asymptomatic or can present with recurrent ischemic episodes and strokes leading to dementia, depression, pseudobulbar palsy, and hemi- or quadraplegia. Additional manifestations that have been described include migraine (mostly with aura), psychiatric disturbances, and epileptic seizures. Neuroimaging is essential to the diagnosis of CADASIL. On imaging CADASIL is characterized by symmetric involvement by confluent lesions located subcortically in the frontal and temporal lobes as well as in the insula, periventricularly, in the centrum semiovale, in the internal and external capsule, basal ganglia, and brain stem; with relative sparing of the fronto-orbital and the occipital subcortical regions. We describe a 49 year old male with CADASIL with absence of temporal lobe findings on MRI but predominant lesions within the periventricular white matter, occipital lobes with extension into the subcortical frontal lobes, corpus callosum and cerebellar white matter. Although CADASIL characteristically presents with anterior temporal lobe involvement, these findings may be absent and our case addresses the atypical imaging findings in CADASIL.     

MRI表现酷似颅内感染的多灶性脑梗死1例报告

目的:报道1例头颅MRI表现酷似颅内感染的多灶性脑梗死。方法:患者行头颅MRI检查,脑脊液等检测,脑标本行多部位病理检查。结果:MRI:两侧额叶及胼胝体膝部、体部多发片状异常信号,T1WI稍低信号,T2WI稍高信号,FLAIR高信号,DWI稍高信号,增强后病灶环形强化。病理诊断:脑动脉重度粥样硬化伴大脑顶叶、基底节、胼胝体及脑桥多发梗死伴出血灶形成。结论:多灶性脑梗死头颅MRI增强亦可出现酷似颅内感染的多灶性环型增强。     

1例CADASIL家系的临床特征与基因突变分析

目的 分析1例皖江地区CADASIL家系的临床表现及基因突变特征.方法 随访记录1例CADASIL家系先证者的临床表现、实验室检查及影像学检查,对其NOTCH3基因突变热点区行基因检测.结果 先证者为1例53岁男性患者,病程中反复发作脑卒中并有家族发病史,另表现假性球麻痹、情绪障碍、冷漠和轻度认知功能障碍,无偏头痛史.其头颅核磁共振显示对称性双侧颞极及外囊区白质高信号病变.患者NOTCH3基因突变分析发现4号外显子区已知致病突变（c.580T〉C）和常见核苷酸多态性（rs1043994）.结论 c.580T〉C突变是中国人CADASIL病例首次报道,基因检测是确诊CADASIL的金标准.