磁共振血管成像对成年人烟雾病的诊断价值

目的 探讨磁共振血管成像(MRA)对成年人烟雾病的诊断价值.方法 对20例成年人烟雾病患者进行DSA和MRI、MRA检查.结果 DSA检查显示20例患者均有颈内动脉系统末端狭窄或闭塞及脑基底部烟雾状血管网形成.MRI显示11例为缺血性病变,9例为颅内出血性病变.MRA显示20例患者均有脑动脉狭窄或闭塞,16例(80%)见丘脑-基底节区有烟雾状的异常血管网,异常血管网检出率与DSA相比差异无统计学意义.结论 MRA可以显示成年烟雾病患者脑动脉狭窄或闭塞及脑内异常血管网,且无创伤性,对成年人烟雾病有较高的诊断价值.     

线粒体脑肌病的MR诊断与鉴别诊断:附4例报告并文献复习

目的:探讨线粒体脑肌病(ME)的MR诊断与鉴别诊断。方法:分析4例线粒体脑肌病患者的临床`实验室及MRI表现,其中4例行常规MRI扫描,1例行MRA扫描。结果:3例病变主要累及两侧大脑皮层和皮层下,1例主要表现为白质内改变,均表现为长T1长T2信号,2例合并脑萎缩,MRA示1例未见明显改变。结论:MRI对线粒体脑肌病的脑内病变敏感,当年轻患者出现非典型性脑梗死表现,应考虑到线粒体脑肌病的可能。     

多模式MRI对线粒体脑肌病的诊断价值

目的探讨线粒体脑肌病多模式MRI影像学特点。方法对21例线粒体脑肌病患者的脑MRI、MRA、MRS影像资料进行分析。结果 MRI：线粒体脑肌病病灶多位于颞、枕、顶叶,病灶具有不符合脑动脉分布及游走性的特点;4例患者病灶对称性累及豆状核、丘脑和（或）尾状核;2例患者大脑、小脑、脑干萎缩,脑室增大,脑沟增宽。病灶均呈T1低信号、T2高信号,陈旧性病灶T2信号稍高;MRA：10例新发病灶处脑动脉及其远端分支较对侧相应脑动脉增粗,信号增强;MRS：14例新鲜病灶可检出倒置的乳酸双峰波及NAA/Cr降低。结论线粒体脑肌病的多模式MR影像学特点有一定的特异性,对线粒体脑肌病的诊断有一定价值。     

缺血性脑血管病颅内脑动脉狭窄的TCD、MRA对比检测

目的评价TCD、MRA诊断缺血性脑血管病患者颅内脑动脉狭窄的临床应用价值。方法203例颞窗良好的缺血性脑血管病患者行经颅多普勒(TCD)检测发现颅内脑动脉狭窄,全部病例3d内再行磁共振血管造影(MRA)检查,5例行数字减影血管造影(DSA)。结果TCD检测发现狭窄大脑中动脉236支,MRA检查发现狭窄大脑中动脉225支．TCD与MRA诊断相符大脑中动脉数为219支。结论TCD和MRA是诊断颅内脑动脉狭窄准确性较好的无创性检查方法,两者联合应用评价颅内脑动脉狭窄精确性更高。     

线粒体肌病与线粒体脑肌病的临床分析

目的探讨神经肌肉系统线粒体病的发病机制、临床与病理特征及诊断。方法对7例确诊为线粒体病患者的临床表现、病理检查、实验室与影像学资料进行了回顾性分析。结果该组患者诊断为线粒体肌病3例,线粒体脑肌病4例;其中2例患者血乳酸水平升高;7例患者肌电图均有异常发现,肌肉活检均有特征性的改变;4例线粒体脑肌病患者头部影像学均有异常改变。结论线粒体病主要累及肌肉及中枢神经系统,诊断要求多种手段结合,以临床和病理表现为主,近年来基因方面的研究及影像学诊断发展迅速,目前对本病主要采取对症治疗。     

16例线粒体肌病和线粒体脑肌病电镜观察分析

目的探讨线粒体肌病与脑肌病患者肌肉的超微结构特征,分析该病的病因和可能的发病机制。方法对16例线粒体肌病与脑肌病患者的肌活检组织进行光镜和电镜超微病理观察。结果电镜观察16例,在肌原纤维间和肌膜下可见弥漫的线粒体数目增多,13例表现为形态异常,可见巨大线粒体,嵴结构不清,排列紊乱,呈同心圆样,均可见线粒体内类结晶状包涵体,有的同时伴有糖原颗粒的异常增多、脂滴沉积及溶酶体异常,有的线粒体只能靠双层膜结构及残存的嵴被识别。3例仅线粒体数量增多,未见其他异常。结论电镜观察肌膜下和肌原纤维间线粒体异常增多且形态异常,特别是线粒体内类结晶状包涵体,对本病的诊断有重要价值。     

线粒体脑肌病的临床与脑电图

报告９例线粒体脑肌病。６例肌活检的病人中，５例见不整红边红纤维（ＲＲＦ），另１例电子显微镜下显示线粒体数量，形态及大小的异常，并见较多糖原颗粒及脂滴。进行血乳酸测定的５例病人，均有不同程度的血清乳酸水平的增高。在５例影像学检查（ＣＴ或ＭＲＩ）的病人中，４例显示一侧或双侧的大脑病变，１例仅表现为侧脑室的对称性扩大。２例基底节区有钙化。１例尸检，脑的改变是以大脑的层状坏死为突出表现。８例进行了脑电图（ＥＥＧ）检查，除１例正常外，余均异常。２例Ｋｅａｒｎｓ－Ｓａｙｒｅ综合征的ＥＥＧ改变均比乳酸中毒性线粒体脑肌病综合征（ＭＥＬＡＳ）轻微。异常表现为：①不同程度的弥散性减慢，有或没有局灶性偏盛，正常的α节律减少或消失；②普遍的或局灶的爆发活动，包括慢波、棘波、尖波及棘慢波综合的爆发。     

25例烟雾病临床影像特点观察

目的探讨烟雾病的临床特征、影像学特点。方法对25例烟雾病患者首发症状、临床表现及影像学结果进行分析。结果烟雾病发病平均年龄较轻,女性多于男性;少儿烟雾病患者以缺血改变为主(87.5%),成年烟雾病患者缺血改变(58.8%)与出血改变(41.2%)相当;临床以头痛、头晕、肢体无力或偏瘫或交替性瘫痪为主要表现,同时可伴失语、智能下降、视力下降、癫痫发作、小舞蹈发作等表现。14例行头CT检查仅示颅内病灶,均未提示烟雾病;25例均行MRI和MRA检查发现颅内病灶,显示颈内动脉虹吸末段和大脑前或中动脉近段狭窄或闭塞,并有脑基底部异常血管网及侧支循环形成,均被诊断为烟雾病。其中9例又行数字减影血管造影术(DSA),结果与其MRA相符。结论头颅MRI和MRA是诊断烟雾病理想的非介入性检查方法。     

磁共振血管成像对脑静脉窦血栓形成的诊断和疗效评价

目的 探讨MR脑血管成像在脑静脉窦血栓(CVST)形成的诊断和疗效评价中的作用. 方法 回顾性分析北京大学深圳医院影像中心自2001年8月至2007年1月期间收治的12例CVST患者的影像学资料,所有病例均作常规SE序列和2D-TOF静脉成像(MRV),10例患者做DSA,8例患者做3D-TOF动脉成像(MRA).比较不同成像方法对CVST病变的显示情况. 结果 12例患者共显示34个CVST.SE序列显示9例17个,表现为静脉窦正常流空信号消失,出现异常信号.MRV显示11例32个,表现为正常静脉窦高信号消失或其内充盈缺损.DSA显示10例30个.MRA显示2例(2/8)脑动脉血管减少.MRV显示的病变静脉窦数日明显高于SE序列,病变检出的阳性率为93.3%(相对DSA).MRV示6例经导管内注药溶柃治疗后随访的患者大部分病变静脉窦恢复正常高信号,溶栓前MRA所示脑动脉血管减少的2例患者则显示动脉血管明显增多. 结论 MR脑血管成像在CVST的诊断和疗效评价中能发挥重要作用.     

成人Moyamoya病的临床表现和影像学特征

目的 总结成人Moyamoya病(烟雾病)的临床表现特点.比较MRA与DSA在Moyamoya病诊断中的价值.方法 对经DSA或MRA确诊的8例成人Moyamoya病患者的临床及影像学资料进行回顾性分析.结果 脑卒中是本组Moyamoya病患者最常见的临床表现,缺血性卒中与出血性卒中发病各半.MRA与DSA检查显示所有患者均有颈内动脉或其分支狭窄或闭塞及脑底异常血管网形成,两者结果相符合.结论 对年轻无基础疾病的脑血管病患者,尤其反复TIA或卒中或头痛患者,应常规行MRI和MRA检查.DSA可清晰显示颅内、外侧枝循环状况,更有助于手术适应证的选择与预后评价.     

肌肉活检未见显著异常的MELAS综合征：3例病理病例分析

目的：探讨肌肉活检未见显著线粒体异常病理改变的MELAS综合征的临床、神经影像及分子病理学特点。方法：3例患者（1男,2女）,发病年龄13-18岁,1例以癫痫首发,2例以头痛呕吐首发。3例均有家族史,符合母系遗传方式。主要临床表现包括：癫痫发作(3/3例),视物下降(3/3例),发作性头痛(2/3例),听力减退 (2/3例),身材矮小（2/3例）,智能减退 (2/3例),精神异常(1/3例)。3例患者均进行肱二头肌活检。应用限制性片段长度多态方法对患者尿液mtDNA A3243G位点突变进行分析。结果：3例患者血清肌酸激酶正常,空腹血乳酸增高。肌电图检查正常。头颅MRI示T2异常高信号,枕叶3例,颞叶2例,顶叶2例,动态检查卒中样病灶呈迁徙样改变者1例。肌活检在3例患者均可见个别SDH深染的肌间小血管,未见破碎红肌纤维和COX阴性肌纤维。3例患者mtDNA基因突变分析发现均存在A3243G点突变。结论：MELAS综合征的临床异质性明显,肌无力症状可以不突出,而且肌肉活检可以没有破碎红肌纤维和COX阴性肌纤维,SDH深染的小血管可能有重要提示价值。     

线粒体脑肌病的临床、病理与神经电生理

目的探讨线粒体脑肌病的临床、肌肉病理及神经电生理特点，以便早期诊断。方法对6例确诊的线粒体脑肌病患者的临床表现、肌肉组织光镜和超微结构改变以及神经电生理改变进行了回顾性分析。结果本组患者的临床特征主要以运动不耐受，阵挛、抽搐发作，精神障碍，共济失调为主。6例患者中4例发现破碎红纤维（RRF），其平均比例为5．3％；超微结构观察有线粒体异常及糖原颗粒沉积，其中有2例发现有典型晶格状包涵体。以癫痫发作为主要临床表现的患者脑电图明显异常；肌电图以神经源性改变4例，占本组病例的4／6；听觉诱发电位（BAEP）、体感诱发电位（SEP）异常3例，占3／6。结论线粒体脑肌病的临床表现复杂多样，诊断主要依赖于临床特征分析和肌肉活检；电镜超微结构改变为线粒体病的主要诊断依据；神经电生理改变对病理损伤累及范围和程度方面有一定的参考价值。     

Mitochondrial function and mitochondrial DNA in a series of 64 patients suspected of having mitochondrial myopathy

Biochemical results concerning 64 patients suspected of mitochondrial myopathies are presented. Four clinical groups were studied including 21 encephalomyopathies, 42 ocular myopathies, 8 isolated myopathies and 3 cardiomyopathies. In 26 cases, the coexistence of a normal mitochondrial DNA and a mutated mitochondrial DNA (heteroplasmy) was found (19 simple deletions, 4 multiple deletions and 3 punctual mutations) and all cases presented with ocular disorders (excepted 2 cases with MERRF). Furthermore, 1 complex I deficiency (1 ocular myopathy), 1 complex IV deficiency (1 adult encephalomyopathy type Leigh), 3 complexes I + IV deficiencies (2 cases with a cardiomyopathy and 1 familial MELAS) and 2 pyruvate (1 adult from of Leigh's encephalomyopathy) dehydrogenase deficiencies (clinically and genetically different) did not show evidence of mitochondrial DNA mutation.     

The effectiveness of microvascular decompression in various types of vascular compression in patients with trigeminal neuralgia

The aim of the work was to evaluate the efficacy of microvascular decompression (MVD) in different types of vascular compression (VC) in 20 patients with the idiopathic form of trigeminal neuralgia (TN). The typical VC was found in 17 cases. An arterial vessel was the cause of VC in 6 cases, a venous vessel in 5. The mixed type of VC was present in 6 cases. In every case of the mixed VC one of the vessels compressing the 5th nerve predominated: arterial in 5 and venous in 1. In 3 cases of TN no VC was found. Observation time after MVD was from 6 to 61 months (median 26.7 months). In the TN patients with the arterial VC (including the mixed VC with the arterial predominance) pain relief was complete in 7 cases, satisfactory in 2 and none in 1 case. In patients with venous VC (including mixed VC with venous predominance) pain relief was complete in 4 cases and satisfactory in 2. In the TN patients without VC pain relief was satisfactory in 1, unsatisfactory in 1 and none in 1 case. Long term results of MVD in the analyzed series of the TN patients confirm the efficacy of MVD when vascular compression of the 5th nerve--either arterial or venous--is found intraoperatively.     

Mitochondrial encephalomyopathy showing prominent microvacuolation and necrosis of intestinal smooth muscle cells: a case diagnosed by rectal biopsy

A 40-year-old woman who developed intestinal dysmobility was found, at rectal biopsy, to have marked microvacuolation of mucosal muscle layer cells, which corresponded to increased accumulation of abnormal mitochondria. Skeletal muscle biopsy specimens showed ragged-red fibers, vessels strongly reactive for succinic dehydrogenase, and focal deficiency of cytochrome c oxidase. Autopsy performed at the age of 50 revealed prominent accumulation of abnormal mitochondria in the intestinal smooth muscle cells with a mottled distribution of focal necrosis, multiple small cerebral infarcts with diffuse neuronal loss, and rarefaction of the perivascular white matter. Mitochondrial DNA analysis showed a point mutation at position 3243. This case, showing features of both mitochondrial neurogastrointestinal encephalomyopathy and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), indicates that routine intestinal biopsy can detect mitochondrial encephalomyopathy with gastrointestinal involvement. The main intestinal changes were extensive accumulation of abnormal mitochondria in the leiomyocytes and scattered focal necrosis. Received: 13 July 1997 / Revised, accepted: 1 December 1997     

线粒体肌病与线粒体脑肌病的酶组织化学和超微结构改变

目的：探讨原发性线粒体肌病与脑肌病的病理特征及临床特点。方法：对11例原发性线粒体肌病与脑肌病患者的临床表现，酶组织化学及超微结构进行分析，结果：11例MGT染色均发现有不整红边纤维（RRF），其中单纯表现为肌无力的患者7例，合并中构神经系统受累者4例，RRF出现比例为6．4％－10．3％，电镜观察11例，9例表现为线粒体数目增多，形态异常，嵴排列紊乱等。均可见线粒体内类结晶状包涵体。2例线粒体改变只见数量增多，未见其他异常。结论：光镜下酶组化染色发现典型RRF，对线粒体肌病与脑肌病的初步论断有重要价值。电镜观察肌膜下线粒体异常增多且形态异常，特别是线粒体内类结晶状包涵体的出现，对本病的确诊有重要意义。     

Epileptic seizures in patients with vascular brain lesions

In a group of 1621 patients with vascular brain lesions (849 males, 772 females) the authors found seizures in 108 cases (56 males, 52 females): in 26 cases of subarachnoid haemorrhage (aneurysms), 6 cerebral haemorrhages, 24 cerebral arterial thromboses, 18 atherosclerosis of brain vessels, 13 cases of embolia, 4 cases of transient cerebral ischaemia, 4 cases of vertebrobasilar insufficiency, 4 cases of cerebrocardiac syndromes, 2 cases of cerebral form of the Winiwarter-Buerger disease and 1 cases each of cerebellar haemorrhage and aortic arch syndrome. In 8 cases family history of epilepsy was elicited. The authors suggest administration of anticonvulsants in justified cases.     

Angiogenesis in glioblastoma--analysis of intensity and relations to chosen clinical data

Microvascular proliferation (MVP) is one of the histopathological hallmarks of glioblastoma (GB). In this study angiogenic potential in GB was analysed according to the morphology of MVP and by assessment of vascular density. The analysis of relations of vascular parameters to chosen clinical features was performed. Tissue samples from 46 GB cases were examined. The clinical data included: patients' age (32-78 years), gender (17 women, 29 men), location (frontal lobe--13, temporal--18, parietal--14, two lobes--1) and tumour size in CT (2-9 cm). Tumour vascularisation was analysed morphologically and quantitatively. Histologically two types of MVP were distinguished: simple and glomeruloid. In vascular hot spots vessel density was assessed on sections immunostained for vWf. Simple type proliferation was found in all cases. Glomeruloid proliferation was found in 33 cases with mean age of patients 59.5 yrs, while in the group without glomeruloids mean age was 48 yrs (statistically significant difference, p < 0.01). Mean vascular density value in examined GB was 150.4 vessels/mm2 (median 141.5; SD--56.4) and younger age was related to higher vascular density (correlation coefficient R = -0.35; p = 0.017). Vascular parameters were related only to the patients' age among the analysed clinical data. The presented results show that morphologically microvascular proliferation is more intense in older GB patients, since higher vascular density is related to younger age. This observation may suggest the diversity of GB angiogenic potential depending on patients' age.