CADASIL的MRI特征及NOTCH3基因的研究

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动脉病(CADASIL)的MRI特点和基因突变类型。方法收集5例经临床确诊的CADASIL患者,对其颅脑MRI的特点和基因检测结果进行回顾性分析。结果 MRI显示为双侧大致对称的脑白质病灶,双侧颞极白质病灶(O`sullivan征),外囊T2高信号("人"字征),皮层下腔隙灶(SLLS征),基底节区、丘脑腔隙性梗死,桥脑T2高信号,脑萎缩,微出血灶。4例患者进行了基因检测,其中3例(75%)为Notch3基因外显子4位点突变,1例(25%)为Notch3基因外显子3位点突变。1例患者病理检查证实为血管平滑肌细胞表面出现嗜锇颗粒沉积。结论 MRI结合Notch3基因突变可以诊断CADASIL。     

转移性脑肿瘤的CT所见

本文分析了50例转移性脑肿瘤(多发灶30例,孤立灶20例),共计116个肿瘤的CT所见。凡是孤立病灶者,均经手术或尸检证实。所有的病例都做了CT扫描和造影剂增强扫描。转移灶多位于脑皮质和白质的交界处(82％),作者认为这是由于血流从     

儿童局灶性皮质发育不良的磁共振高分辨成像特征

目的探讨儿童局灶性皮质发育不良(Focal cortical dysplasia,FCD)的3D高分辨核磁共振(MRI特征。方法回顾性分析2015年4月-2018年6月山东大学齐鲁儿童医院收治的42例经病理证实为FCD的患儿MRI资料,观察下述征象:局灶性灰白质分界模糊、皮质结构异常(增厚或变薄)、T2WI/FLAIR白质信号增高,伴或不伴transmantle征(皮层下白质内向脑室方向延伸的异常信号),T2WI/FLAIR灰质信号增高,异常脑沟或脑回形态及节段性和/或脑叶发育不全/萎缩。结果 42例患儿中,37例(88.1%)可见MRI阳性征象,FCDⅠ型13例(35.1%),主要MRI特征为局灶性灰白质分界模糊、相应部位皮质结构异常及T2WI/FLAIR白质信号增高;FCDⅡ型17例(45.9%),表现为局灶性灰白质分界模糊及皮质结构异常、T2WI/FLAIR白质信号增高及transmantle征;FCDⅢ型共7例(18.9%),其中海马萎缩2例(28.6%)、胚胎发育不良性神经上皮瘤(Dysembryoplastic neuroepithelial tumor,DNET) 2例(28.6%)、节细胞瘤1例(14.3%)、软化灶并胶质增生2例(28.6%)。结论 FCD患儿的3D高分辨MRI特征具有特异性,可提高FCD病灶检出率。     

脑小血管病患者认知状态与神经影像学特征的相关性分析

目的:本研究旨在探讨脑小血管病患者认知状态与皮质下腔隙性梗死部位及病灶数、白质病变和内侧颞叶萎缩之间的关系。方法:本研究纳入59例在上海交通大学医学院附属仁济医院神经内科脑血管病二级预防门诊登记的最近一次症状性缺血性卒中病史3个月的脑小血管病患者。根据详细的神经心理学评估结果,将59例患者分入无认知障碍组(24例)、轻度认知障碍组(22例)和血管性痴呆组(13例),采用头颅磁共振成像多重序列检查及斜冠状面重建,依据所得图像进行皮质下腔隙性梗死病灶计数、白质病变评分和内侧颞叶萎缩评分。结果:脑小血管病患者认知障碍的发生与皮质下腔隙性梗死病灶总数有关(P=0.004),其中皮质下白质部位腔隙性梗死病灶数在3组之间的差异有统计学意义(P=0.001);轻度认知障碍组和血管性痴呆组患者丘脑部位腔隙性梗死病灶数多于无认知障碍组的患者,但差异无统计学意义(P=0.058)。大部分的白质病变病灶位于额叶和顶枕叶,颞叶和基底节的白质病变较少。3组之间双侧额叶(P=0.033)和双侧基底节(P=0.009)的白质病变评分差异有统计学意义。59例患者中,43例完成磁共振成像斜冠状面重建。左右内侧颞叶萎缩一般呈同步发展;3组之间左或右内侧颞叶萎缩评分的差异均有统计学意义(P值均0.001)。在13例左内侧颞叶萎缩评分≥2分的患者中,11例为无认知障碍组和轻度认知障碍组患者;血管性痴呆组患者均有内侧颞叶萎缩,其中6例患者的左右侧平均内侧颞叶萎缩评分≥2分。多因素分析结果显示,皮质下白质腔隙性梗死病灶数[比值比:2.39(95%可信区间:1.19~5.80),P=0.005]和左内侧颞叶萎缩评分[比值比:10.21(95%可信区间:2.02~51.75),P=0.003]是脑小血管病认知功能的独立危险因素。结论:脑小血管病患者的认知损害程度与皮质下白质腔隙性梗死病灶数和左内侧颞叶萎缩评分相关。     

23例MRI误、漏诊局灶性皮质发育不良患儿(FCD)术后回顾性读片再认识

目的探讨3D高分辨MRI误、漏诊局灶性皮质发育不良患儿(Focal cortical dysplasia,FCD)的脑结构特征。方法回顾分析23例经术后病理学证实的FCD患儿MRI及病理资料,术前均被误诊或漏诊,术后通过深度分析找出其在MRI上的异常征象及相应病理学形态、特点。结果局部脑沟形态异常5例(21. 74%),术前读片均为阴性,局部脑回形态异常7例(30. 43%),术前读片先天发育异常3例,阴性4例,局部白质体积缩小4例(17. 39%),术前均诊断为髓鞘化延迟;白质内局部信号略增高2例(8. 70%),术前1例诊断为髓鞘化不良、1例为阴性;节段性脑萎缩2例(8. 70%),术前读片诊断为局限性蛛网膜下腔增宽; 3例(13. 04%)患儿术前诊断为结节硬化。病理学示病灶内不同程度结构不良、异形神经元及气球样变细胞。结论部分儿童FCD缺乏典型MRI征象,发现其轻微的脑结构异常及不典型MRI征象,能够指导临床进行准确术前评估与定位。     

进行性多灶性白质脑病的团块效应

进行性多灶性白质脑病(PML)的神经影像学特征为病灶在CT扫描上密度降低,MRI扫描T_2加权时则信号增强,病变大多在脑室周围及顶枕叶、额叶下白质,偶累及后颅窝,在增强扫描时缺乏团块效应。作者报道1例脑活检及脑脊液聚合酶链反应证实为PML的患者,最初因神经影像学提示团块效应而被误诊。     

伴有癫痫发作的脑内病灶的手术治疗

目的 研究伴有癫痫发作的脑内病灶的手术治疗效果。方法 本组24例病人中，EEG示13例有局部痫样波，5例局灶慢波，6例正常。在皮质脑电图(ECoG)监测下手术．11例痫灶位于病灶表面或紧邻其边缘，行病灶 痫灶切除；8例痫灶距病灶10mm以上，其中6例位于非功能区，行病灶 痫灶切除；2例位于功能区，行病灶切除及热凝痫灶皮质；2例痫灶位于前颞叶深部，行前颞叶及病灶切除。3例ECoG正常，仅行病灶切除。结果 21例痫灶切除病人中，15例(71％)术后癫痫完全消失，2例(10％)发作显减少，4例(19％)发作减少。结论 对伴有癫痫发作的脑内病灶病人，术中ECoG及深部电极有助于精确定位痫灶；切除病灶、痫灶，效果良好。     

脑磁图偶极子定位在癫痫研究中的应用

准确定位癫痫病人的病灶是癫痫外科手术治疗的基础。脑磁图对癫痫灶和痫灶周围脑功能区定位的空间分辨率为3毫米,时间分辨率为1毫秒。其对大脑表面部位癫痫灶定位的敏感性为82％,特异性为70％;对颞叶内侧深部癫痫灶定位的敏感性为26％,只能检测到高波幅(超过100微伏)和广泛棘波(范围超过3cm2)的颞叶内侧癫痫灶。目前,脑磁图被广泛用于特发性癫痫病灶的定位和痫灶周围脑功能区的定位,并开始用于症状性癫痫病灶的定位、癫痫镜像灶的辨别和定位以及某些类型癫痫发病机制的研究。     

进行性多灶性白质脑病的临床与基础研究新进展

进行性多灶性白质脑病(PML)是由JC病毒(JCV)感染少突胶质细胞为主要特征的致命性中枢神经系统脱髓鞘性疾病。1958年,美国麻省总医院Astrom等撰文总结了2例慢性淋巴细胞白血病(CLL)和1例霍奇金淋巴瘤(HL)患者的尸体解剖所见,指出其特殊的脑组织病理改变表现为白质内存在许多大小不等的脱髓鞘病灶,且小病灶有融合成     

多发性硬化的MRI特征

目的 探讨多发性硬化(MS)患者脑及脊髓的MRI特征.方法 回顾性分析110例临床确诊的MS患者的MRI检查资料.结果 MS患者脑部病灶以侧脑室旁白质多见(55.8%),其次是额叶深部白质(54.7%)、顶叶深部白质(44.2%)、脑干(25.6%)、基底节(23.3%)、丘脑(11.6%)等,灰质也可受累;病灶大小不一,形态可为斑片状、斑点状、圆形、类圆形.脊髓病灶以颈、胸髓多见,分别占75.0%和68.8%,形态可为斑片状、条片状、类圆形,脊髓灰白质可同时受累,10.0%的患者出现脊髓形态改变,如增粗、萎缩.MS患者脑及脊髓内病灶在影像学上因病程不同可表现为长T1、长T2或等T1、长T2信号.结论 MS的MRI特点主要是以脑和脊髓白质出现多个大小、形状不同的病灶.     

神经导航辅助显微手术在神经外科中的应用

目的：探讨神经导航技术在神经外科领域的应用前景和总结应用神经导航辅助显微神经外科手术切除位于脑重要功能区和深部小病灶的经验和体会。方法：我院2000年11月至2001年3月采用StealthStation神经导航系统辅助显微手术切除的颅内病灶18例,额叶6例（其中3例为于运动区）,顶叶4例,枕叶2例,颞叶1例,桥小脑角2例,小脑半球3例,脑膜瘤6例,胶质瘤4例,炎性肉芽肿2例,血管网织细胞瘤3例,脂肪瘤,三叉神经纤维瘤和寄生虫感染各1例,结果：神经导航总体误差1．8－5．7mm,平均2．8mm,病灶全切除14例,次全切4例,位于运动区的3例小病灶,手术全切除后无任何神经功能障碍,结论：Stealth Station神经导航系统定位准确,尤其是对位于脑深部和重要功能区的小病灶,辅助显微手术效果显。     

CT、MRI引导立体定向脑活检术的临床研究

目的评价CT或MRI引导立体定向活检术在确定脑深部病变的病理组织学诊断及选择适宜的治疗方法中的作用.方法采用计算机体层摄影(CT)或磁共振成像(MRI)引导立体定向技术对420例脑深部或脑主要功能区病灶进行了活检手术.其中男252例,女168例,年龄4.5～71岁,平均40.3岁.病变位于脑深部104例,鞍区82例,基底节区78例,三脑室后部50例,多发病灶48例,脑室内23例,小脑半球19例,脑干内14例,斜坡2例.CT引导手术386例,MRI引导手术34例.结果共有405例作出了病理诊断,活检总阳性率为96.43%,其中肿瘤359例(85.48%),炎性病变33例(7.86%),其他病变13例(3.10%).未作出病理诊断者15例(3.57%).共发生手术并发症7例(1.67%)出血5例(1.2%),癫痫1例,意识障碍1例.结论 CT或MRI引导的立体定向脑深部病变活检术是一种明确颅内占位病变的组织学诊断的可靠方法,并能为临床治疗方法的选择提供依据.     

Long-term effects of sequential cortical infarcts on scar size, brain volume and cognitive function

Focal ischemia induces long-term pathophysiological consequences in widespread brain areas. Here we analyzed long-term effects of sequential cortical lesions on brain volume and cognitive function. Rats received either single photothrombotic lesions in the forelimb sensorimotor cortex (SL) or two lesions in sequence either immediately (DL0), 2 days (DL2), 7 days (DL7), or 10 days (DL10) after the first surgery in the homotopic contralateral area. Infarct and global brain volume were measured 7 days (SL and DL2 groups) and one month (all groups) after the last period of ischemia. In the weeks following a stroke, the single lesion shrank considerably. This shrinkage was accentuated by a further lesion received either earlier or later. Thirty-one days after obtaining the second lesion, the lesion scars on both sides had a mean volume of 5.8 +/- 2.3 mm3 in DL2 as compared to 8.5 +/- 3.5 mm3 in SL-animals. In addition, there was a super-additive loss of residual brain volume by 2.2-8.0% in each hemisphere in animals with sequential lesions. In the watermaze, this loss of brain volume corresponded to a slight but significant impairment in performance. The present study revealed a complex interaction of lesions in animals with sequential strokes associated with global reduction of brain volume and cognitive impairment indicating degenerative processes beyond the lesions itself.     

Subinsular vascular lesions: an analysis of 119 consecutive autopsied brains

The insula of Reil constitutes a functionally intriguing complex of the brain related to multifunctional activities. We examined the subinsular region in 119 consecutively autopsied patients, as T2 hyperintense lesions are frequently observed in magnetic resonance diagnosis of this region. The patients were admitted in neurology wards and were diagnosed as having cerebrovascular disease in 55 patients (46%), other neurological diseases in 57 patients (48%) and non-neurological diseases in seven patients (6%). Demyelination of the white matter was semi-quantified as a fiber density score (percent stained area/total area) with computer-assisted image analysis on Klüver–Barrera-stained sections. Astrogliosis was assessed by immunohistochemistry for glial fibrillary acidic protein.
The lesion analysis showed a dilated perivascular space in 29 patients (24%), demyelination (fiber density score less than the mean − 1 SD) in 27 patients (23%), slit-shaped lesion in six patients (5%), lacunar infarction in one patient (1%) and cerebral hemorrhage in one patient (1%). A histologic–radiologic comparison in two patients with subcortical ischemic vascular dementia showed correspondence between subinsular hyperintensities, and demyelination, gliosis and a dilated perivascular space. These results indicate that subinsular lesions rarely signifies focal vascular lesions, and are consisted of demyelination, gliosis and a dilated perivascular space.     

Peripheral white matter lesions of the spinal cord with changes in small arachnoid arteries in systemic lupus erythematosus

The spinal cords of two autopsy cases of systemic lupus erythematosus (SLE) (case 1, 34-year-old woman; case 2, 40-year-old woman) showed lesions restricted to the periphery and frequent changes in small arteries in the spinal subarachnoid space. There had been clinical cord involvement in both cases, for two months (case 1) and six years (case 2) before death, respectively. The spinal cord of case 1 had circumferentially located, multiple, round, spongy, sometimes necrotic, lesions, containing many swollen axons. Even the apparently spared peripheral regions showed moderate axon loss. Observation of serial sections of the cord revealed the direct connection of some occluded subarachnoid small arteries with vessels within the spongy lesions, indicating the responsibility of the vascular changes for the cord lesions. In case 2, the whole length of the spinal cord showed marked axonal loss in the entire circumferential white matter. Groups of old axonal retraction balls and localized spongy changes were occasionally observed at the periphery. The affected peripheral zone coincided with the region supplied by marginal arteries. These observations suggest that primary vascular lesions, followed by secondary degeneration of axons, played fundamental roles in the development of this unique lesion in case 2, and that localized changes such as those observed in case 1 gradually develop into the continuous lesion seen in case 2.     

Syphilitic cerebral gumma with HIV infection.

We describe two human immunodeficiency virus (HIV)-infected patients with syphilitic cerebral gummas. Both patients presented with a seizure disorder associated with an isolated, peripherally located, contrast-enhancing lesion of the brain on CT. Cranial MRI performed on one patient revealed dural thickening in the region of the lesion. A brain biopsy in that patient revealed a lymphoplasmacytic infiltrate with extensive perivascular inflammation. Clinical manifestations, radiographic resolution of the lesions, and a decline in nontreponemal serologic tests for syphilis followed high-dose aqueous penicillin therapy in both patients. These patients illustrate that (1) cerebral mass lesions occurring with HIV infection may result from syphilis; (2) seizures may be the presenting manifestation of this form of neurosyphilis; and (3) high-dose, intravenous, aqueous penicillin is effective in treating these lesions.     

Foot drop: The first sign of an intracranial tumor?

Isolated foot drop due to a brain lesion is rare. A 48-year-old man complained of inability to dorsiflex the right foot. Right dorsiflexion had 0/5 muscle strength and there were no upper neuron findings on his neurological examination. Magnetic resonance imaging of the brain revealed a left parasagittal brain mass. The lesion was removed and muscle activity returned with 3/5 muscle strength 6 weeks after the operation. The parasagittal area is located at the foot of the homunculus. Therefore, in patients with foot drop, lesions of the parasagittal area should be considered.     

脑多发性硬化病灶和脑萎缩的MRI特点及其相关因素的研究

目的 探讨脑多发性硬化(MS)病灶和脑萎缩的MRI特点,并对其与脑萎缩的关系及其相关因素进行分析.方法 80例确诊的脑MS患者按照年龄分成两组;每例患者MRI检查时均进行5 mm层厚不间断横断面T1、T2加权像扫描;观察MS的病灶数目、信号和形态特点及分布规律;测量脑萎缩数据,并与正常对照组进行比较;对MS脑萎缩的相关因素进行分析.结果 (1)MRI显示脑MS病灶多呈卵圆形或类圆形,边界较清楚,典型病灶长轴与侧脑室切线垂直,病灶以等或稍长T1、长T2信号改变为主.(2)与健康对照组比较,脑MS患者脑室的测量径线明显增大,脑沟及外侧裂明显增宽,脑实质的测量径线明显缩小.(3)对MS患者脑萎缩的相关因素进行分析得出扩展残疾状态评分(EDSS)是脑萎缩的最主要预测因素.结论 脑MS的病灶多分布在侧脑室周围,以等或稍长T1、长T2信号为主,病灶形态多呈卵圆形或类圆形,边界较清楚;脑MS患者的病程、病灶的数目及直径以及EDSS得分均与脑萎缩明显相关;脑萎缩在脑MS患者中普遍存在并逐渐进展,其测量数据可作为临床监测MS进展的一个有用指标.     

帕金森病发病危险因素的研究

目的 探讨帕金森病发病的危险因素。方法 利用病例对照研究方法对１００例ＰＤ患者和１００例年龄及性别相匹配的对照组进行分析，并对７２例ＰＤ和６６例对照者的载脂蛋白Ｅ基因型进行检测。结果 发现引起ＰＤ发病的危险因素包括不良环境暴露，幼年期的居住地，脑外伤，阳性家族史及农业劳动等；同时发现ａｐｏＥ等位基因频率在ＰＤ和本研究的对照组间分布无显著性差异。     

运动功能区占位病变的立体定向显微切除术

目的 探讨采用微侵袭手术方法切除运动功能区病灶的可能性。方法 在立体定向引导与显微镜结合下对17例位于运动功能区病灶进行了切除手术，观察手术后效果。结果 16例病灶得以全切，1例次全切。12例术前有癫痫中9例完全消失，2例减轻，1例无效。6例术前有功能障碍中，3例恢复正常，2例较术前症状明显减轻，2例症状有所加重。11例术前没有功能障碍中，仅有1例遗留对侧拇指的灵活性减退。结论 运用立体定向与显微镜相结合的微侵袭手术方法切除大部分运动功能区病灶是安全的。