烟雾病的相关研究进展

烟雾病(Moyamoya disease)又称为颅底异常血管网病,是一种以双侧颈内动脉末端进行性狭窄或闭塞,颅底异常血管网形成为特征的慢性闭塞性脑血管病。该病1957年首先由Takeuchi与Shimizu以颈内动脉发育不全报告此病,由于床突以上颈内动脉及Willis环自发性进展性梗死,在颅底出现大量     

烟雾病的病因研究进展

正烟雾病又称Moyamoya病(MMD),是以双侧颈内动脉末段和(或)大脑前动脉起始段和(或)大脑中动脉起始段进行性严重狭窄或闭塞,同时伴随颅底增生的异常血管网为特征的脑血管疾病。目前,广泛接受的烟雾病的定义为双侧颈内动脉末段和(或)大脑中动脉起始段和(或)大脑前动脉起始段严重狭窄或闭塞,同时伴随颅底增生的异常血管网,并排除     

同患Alzheimer病的孪生姊妹

世界上有关孪生子患Alzheimer 病的文献极为罕见。曾报导的三对同貌孪生子,都是其中一人患本病,另一位却没有。这些“无痴呆”孪生子并没做过脑组织学检查,故两个孪生子间的差异性就难肯定。本文报告一对孪生姊妹同患Alzheimer病。姊妹二人的现存资料中没有关于胎盘、     

家族性烟雾病1例报告

烟雾病(Moyamoya disease,MMD)是以脑血管造影发现双侧颈内动脉虹吸部及大脑前动脉、大脑中动脉起始部严重狭窄或闭塞,伴脑底异常团块状血管为特征的一种慢性脑血管闭塞性疾病;该病血管造影呈烟雾状,故又称烟雾病.     

烟雾病的临床特点及经颅多普勒超声分析

烟雾病(Moyamoya disease,MMD)是先天性颅底血管发育异常或各种疾病导致的颅内血管异常血管网形成.该病的病理改变为颈内动脉虹吸部、终末段、大脑中动脉及大脑前动脉的起始部狭窄或闭塞,早期尤以颈内动脉终末段狭窄多见;病变多数累及双侧.     

烟雾病研究的现状与展望

烟雾病(Moyamoya disease)是一种慢性腩血管病,其特点是双侧颈内动脉末端或大脑前动脉、大脑中动脉起始部进行性狭窄和闭塞,伴有受累动脉供血区及其周围的血管网形成烟雾血管( Moyamoya vessel).可疑烟雾病为单侧出现的上述病变.烟雾病综合征(Moyamoya syrdrome)为系统性疾病,伴有血管造影中出现类似于烟雾病表现的综合征.     

1例Moyamoya病反复脑室出血报道

Moyamoya病又称烟雾病，脑底异常血管网病，是以脑血管造影发现双侧劲内动脉虹吸部及大脑前、中动脉起始部严重狭窄或闭塞，伴有脑底异常血管网为特征的一种慢性脑血管闭塞性疾病。现将1例Moyamoya病反复脑室出血的病例报道如下。     

烟雾病的诊断和治疗进展

烟雾病(Moyamoya disease,MMD)又称作脑底异常血管网病,是一种双侧颈内动脉(internal carotid artery,ICA)、大脑前动脉(anterior cerebral artery,ACA)及大脑中动脉(middle cere-bral artery,MCA)起始部进行性狭窄或闭塞,颅底代偿形成异常血管网为特征的脑血管疾病。1969年日本学者Suzuki和Takaku首先报道该病,因脑血管造影中异常血管网模糊不清,     

“单侧”Moyamoya病与Moyamoya病不同吗?

典型Moyamoya病是一个双侧颈动脉分叉部狭窄闭合的过程。单侧典型Moyamoya血管成像表现且对侧正常或可疑血管成像表现是否为典型(双侧)Moyamoya病一直是有争论的。 材料和方法:本文研究对象为日本北海道大学附属医院及分院1986～1995年的10年间收治的10例单侧Moyamoya病例。其中4例儿童,6例成人,年龄为4～56岁,男女各5人,均接受了常规的脑血管造影或数字检影(DSA)检查。如有单侧典型Moyamoya病血管成像表现者,诸如颈内动脉终末部狭窄闭塞改变且为单侧发病,而对侧血管成像正常或微小可疑狭窄表现即诊断为单侧Moyamoya病。与此类似的系统性疾病在此研究中被排除。所有病人在外科治疗前进行了常规血管成像或DSA检查做为对比,术后行磁共振血管成像(MRA)、     

烟雾病的临床特征及诊断

烟雾病(Moyamoya病)主要表现为因颈内动脉狭窄或闭塞引起的脑缺血及代偿血管扩张引起的脑出血.一般通过经颅多普勒超声(TCD)筛查颅内血管狭窄的情况后,进一步行CT血管成像(CTA),磁共振血管成像(MRA)或数字减影血管造影(DSA)即可确诊.但如果对Moyamoya病的发病特征缺乏足够了解,也容易漏诊或误诊.我们对Moyamoya病的临床和影像学特征进行分析,以利提高对Moyamoya病的认识.……     

Adrenomyeloneuropathy: a form of X-linked adrenoleukodystrophy. Report of a family

A family with adrenoleucodystrophy linked to chromosome X (X-ALD) is reported. Three patients, one man (proband) and two female monozygotic twins, had adrenomyeloneuropathy (AMN) which is a form of the disease. The proband had characteristic changes in MRI with demyelination of the white matter in the cerebral hemispheres. Both women (one of them was proband's mother) has somewhat less severe AMN form, but in her twin sister the syndrome was much more intense. The clinical diagnosis of the disease was confirmed by biochemical investigations--determination of the level of very long chain fatty acids, ALDP protein and the activity of peroxysomal beta-oxidation.     

连续40例出血型烟雾病的DSA影像学分析

目的探讨烟雾病患者的DSA影像学诊断特征。方法回顾性分析40例烟雾病病例的DSA影像学表现,40例患者均经CT诊断为颅内出血,均经DSA确诊。结果双颈内动脉末段狭窄闭塞22例,一侧颈内动脉末段狭窄闭塞8例,一侧大脑中动脉狭窄闭塞3例,双侧大脑前动脉和一侧大脑中动脉狭窄闭塞1例,双侧大脑前动脉狭窄闭塞3例,双侧大脑中动脉狭窄闭塞1例,一侧大脑中动脉及对侧大脑前动脉狭窄闭塞2例,均伴颅底异常血管网形成。结论DSA为诊断烟雾病的金标准,DSA检查可清楚显示烟雾病血管狭窄闭塞的部位、侧支循环情况及是否合并动脉瘤,据其表现可指导进一步治疗。     

经颅多普勒及彩色经颅多普勒超声与DSA对烟雾病诊断的比较分析

目的探讨经颅多普勒(TCD)及彩色经颅多普勒超声(TCCD)对烟雾病诊断的临床应用价值。方法采用TCD及TCCD探测137例烟雾病患者颅内血管血流动力学的改变,并与其DSA结果比较分析。结果 TCD探测24例,明确诊断22例,高度怀疑1例,阴性者1例,与DSA比较诊断符合率为96%。TCCD探测113例,明确诊断102例,高度怀疑8例,因无透声窗检测失败3例,与DSA比较诊断符合率为97%。结论 TCD及TCCD均能实时动态地观察颅底血管血流动力学的改变,而TCCD对颅内动脉狭窄处血流显示更敏感,更有助于准确判断血管闭塞与轻度狭窄,对烟雾病的诊断具有更高的应用价值;又因其无创,病人易接受,两者可作为烟雾病患者诊断、定期随访的首选方法。     

TCD对烟雾病患者脑硬脑膜动脉血管融通术前后颞浅动脉血流变化的评估价值

目的探讨经颅多普勒超声(TCD)对烟雾病患者行脑硬脑膜动脉血管融通术(EDAS)前后颞浅动脉血流变化的评估价值。方法对2010年2月至2010年6月收治的45例烟雾病患者行EDAS前后进行TCD检查,检测手术前后患者颞浅动脉的频谱形态及各项血流参数的变化,并与其DSA结果进行比较。结果 TCD检测示术前患者的颞浅动脉呈典型颅外动脉频谱,频窗清晰;术后频谱明显颅内动脉化,血流速度明显增加,血供增加。手术前后患者颞浅动脉的平均流速分别为(24.96±8.96)cm/s和(40.33±16.57)cm/s,手术前后搏动指数分别为(2.06±0.69)和(1.44±0.69),手术前后均差异显著(P<0.05)。术后复查DSA显示,血管重建良好25例,中等16例,差4例;TCD复查示良好21例,中等18例,差6例,与DSA比较总符合率为82.22%(37/45)。结论 TCD能够准确检测烟雾病患者行EDAS前后颞浅动脉血流动力学的变化,可为其手术疗效的评估提供一定的客观依据;因其具有简便、快速、无创、经济、可重复、可动态检测的特点,对定期随访观察病程发展更具有优越性。     

Moyamoya病的临床表现与影像学特点

目的 回顾分析12例Moyamoya病的临床和影像学特征，探讨Moyamoya病的影像学诊断价值。方法 分析12例Moyamoya病患的临床资料及数字减影血管造影(DSA)、磁共振血管造影(MRA)、磁共振成像(MRI)和CT结果。结果 所有病例均表现有颈内动脉或其分支不同程度的狭窄或闭塞和颅底异常血管网(MMD血管)；其中病变呈双侧8例．单侧4例。12例中头颅CT表现有梗塞灶4例，脑出血5例，其余3例表现正常。结论 除DsA外．MRI和MRA是两种可以很好评价Moyamoya病的影像学方法。若儿童或青壮年发生脑血管病，反复出现脑梗死或出现脑室出血、脑叶出血或蛛网膜下腔出血(SAH)则要考虑Moyamoya病的可能。     

Occlusive cerebrovascular disease in young adults

13 patients under 40 years of age had cerebral infarction and angiographic evidence of arterial stenosis or occlusion. None of them had cardiac disorders prone to cerebral embolism. Five patients had occlusion at the origin of the internal carotid artery, one had occlusion of the common carotid artery and one each had stenosis at the origin of the internal carotid and common carotid arteries, respectively. Two patients had unilateral occlusion of the supraclinoid portion of the carotid artery with basal collaterals that had some resemblance to the Moyamoya disease. Three patients demonstrated stenosis or occlusion of the middle and/or anterior cerebral arteries. Three patients had hypercholesterolemia, one of whom was hypertensive. None had confirmed diabetes mellitus. One female, who died, had taken oral contraceptives for 3 years. A male, with internal carotid artery occlusion, had serological evidence for syphilis.     

Disappearance of a middle cerebral artery aneurysm associated with Moyamoya syndrome after revascularization in a child: case report

Introduction  Pediatric Moyamoya disease is rarely associated with intracranial aneurysms. We report a case of a 7-year-old girl with an antecedent of persistent craniopharyngeal canal, who presented with a history of choreiform movements. Materials and methods  A Moyamoya disease was found with an unruptured left middle cerebral artery aneurysm on her first angiography. Conservative treatment was chosen for the aneurysm and she underwent indirect revascularization by encephalosynangiosis using the multiple bur-hole technique for her Moyamoya disease. Abnormal movements were improved. Control angiogram at 6 months showed development of intracranial–extracranial anastomoses with complete resolution of the aneurysm. Aneuryms including the major arteries of the basal arterial circle occur as a by-product of the high velocity and blood flow secondary to the arterial stenosis. Blood flow modification after revascularization often lead to spontaneous regression and disappearance of these aneurysms. Conclusion  Therefore, a conservative treatment of these proximal aneurysms must be chosen after encephalosynangiosis.     

Myasthenia gravis in monozygotic twins. Clinical follow-up nine years after thymectomy

Genetically proved monozygotic female twins in whom myasthenia gravis developed in their 20s initially had their disease well controlled with anticholinesterase medication. Because of increasing resistance to medication, twin 1 had her thymus removed, after which the symptoms decreased. Predicated on the improvement in her sister and the need for increasing medication to allay symptoms, and after proof of monozygosity, twin 2 also underwent thymectomy, with subsequent symptomatic improvement. The twins were followed up nine and six years after thymectomy, respectively. Monozygotic twins with myasthenia gravis are generally young women, with onset of disease in one occurring within one to three years of the other. Reports of only one affected twin may be misleading because of inadequate documentation of monozygosity, absence of long-term observation, or both. Serial investigations of the "uninvolved" twin in a monozygous pair and proof of monozygosity should be obtained to aid in early diagnosis and treatment of this illness, as well as to study the pathogenesis of myasthenia gravis prior to symptom onset.     

烟雾病行STA—MCA分流术前后脑血流的TCD检测

目的应用经颅多普勒超声（TCD）动态观察烟雾病（MMD）行颞浅动脉一大脑中动脉（STA—MCA）分流术前、后脑血流的变化,探讨TCD对MMD治疗效果评估的价值。方法18例MMD患者在实施STA—MCA手术前、后分别行床边TCD检查。对患者手术前后大脑中动脉（MCA）主干峰值流速（Vp）、舒张末期流速（Vd）、平均流速（Vm）以及血管搏动指数（PI）、频谱形态、音频信号进行检测,并对手术前、后的数值进行对比分析。结果术前MCA主干血流速度异常增高者,频谱紊乱,音频信号粗糙或乐性杂音,术后血流速度降至正常范围或接近正常范围,频谱形态规则,音频信号清晰柔和。术前MCA主干血流速度降低者,为低脉动型,波浪型频谱,术后血供增加,血流速度升高至正常范围,频窗清晰。对比手术前、后Vm的数值,差异均具有显著性（P〈0．05）。结论TCD可以实时动态的检测MMD患者行STA—MCA分流术前、后脑血流动力学的变化,为MMD治疗方法的选择和术后疗效评价提供客观依据。     

Interaction of heritable and estrogen-induced thrombophilia: possible etiologies for ischemic optic neuropathy and ischemic stroke

Our specific aim was to assess how thrombophilic exogenous estrogens interacted with heritable thrombophilias leading to non-arteritic ischemic optic neuropathy (NAION) and ischemic stroke. Coagulation measures were performed in a 74 year old patient and her immediate family. The proband had a 47 year history of 9 previous thrombotic episodes, and developed unilateral NAION 4 years after starting estrogen replacement therapy (ERT). The proband was heterozygous for two thrombophilic gene mutations (G20210A prothrombin gene, platelet glycoprotein IIIa P1A1/A2 polymorphism), and homozygous for the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene. Of 238 normal controls, none had these 3 gene mutations together. The proband's mother and brother had deep venous thrombosis (DVT). The proband's brother, sister, nephew, daughter, and two granddaughters were homozygous for the C677T MTHFR mutation. The proband's brother was heterozygous for the G20210A prothrombin gene mutation. The proband's niece was heterozygous for the G20210A prothrombin gene mutation, homozygous for the C677T MTHFR mutation, homozygous for the hypofibrinolytic 4G polymorphism of the plasminogen activator inhibitor-1 (PAI-1) gene, and heterozygous for the platelet glycoprotein IIIa P1A1/A2 polymorphism. Of 238 normal controls, none had the niece's combination of 4 gene mutations. When ERT-mediated thrombophilia was superimposed on the proband's heritable thrombophilias, unilateral ischemic optic neuropathy developed, her tenth thrombotic event over a 5 decade period. When estrogen-progestin oral contraceptives were given to the proband's niece, she had an ischemic stroke at age 22. Exogenous estrogen-mediated thrombophilia superimposed on heritable thrombophilia and hypofibrinolysis is associated with arterial and venous thrombi, and appears to be a preventable, and potentially reversible etiology for ischemic optic neuropathy and ischemic stroke.