运动神经元病临床与骨骼肌病理112例诊断分析

目的探讨骨骼肌病理对运动神经元病诊断与鉴别诊断的价值。方法收集112例运动神经元病患者的临床、神经电生理及活检骨骼肌病理资料,进行诊断与鉴别诊断分析。结果①入选患者均有肢体无力、肌萎缩,吞咽或呼吸肌无力43例,舌肌萎缩或纤颤50例,伴有肌束震颤69例,初诊伴有上运动神经元受损征78例;②肌电图呈神经源性异常;③临床确诊肌萎缩侧索硬化(ALS)90例(初诊78例、复诊/随访后12例),脊髓性肌萎缩症(SMA)22例,其中肯尼迪病7例;④骨骼肌病理均符合神经源肌病改变,ALS多见小角化肌纤维、核聚集、靶纤维;成人型SMA以小圆形肌纤维在肌束内小群分布为特点,其中肯尼迪病萎缩小圆形肌纤维、核聚集多在肌束间分布。结论①仅表现下运动神经元受累的MND,行骨骼肌活检病理分析有助ALS与SMA的诊断与鉴别诊断;②随诊、动态观察体征与病情进展变化可助ALS确诊。     

连枷臂综合征临床与病理分析

目的研究连枷臂综合征(FAS)的临床和病理特点。方法回顾性收集整理90例肌萎缩侧索硬化患者的临床资料,从中筛选出FAS患者,并总结分析其临床表现、实验室检查、电生理及活检骨骼肌病理特点。结果 90例肌萎缩侧索硬化患者中有8例为连枷臂综合征。连枷臂综合征患者主要临床特征为对称性双上肢肌无力和肌萎缩;血肌酸激酶正常或轻中度升高;肌电图显示脊髓4个节段中3个或以上支配区出现纤颤、正相波,动作单位电位增宽、增高。活检骨骼肌主要病理表现为小角化肌纤维、肌原纤维网紊乱、"靶纤维"。结论连枷臂综合征是肌萎缩侧索硬化的临床变异型,电生理检查能发现亚临床脊髓受累,有助于连枷臂综合征的诊断和鉴别诊断。     

溶血磷脂酸及其与缺血性卒中的关系

溶血磷脂酸(LPA)是一种具有多种生物学效应的磷脂介质,其主要来源于活化血小板的释放,且具有促进 血小板活化的作用,所以,血浆LPA水平可反映体内血小板活化程度,预示缺血性卒中的危险性。此外,LPA又是 LDL-C氧化过程的代谢产物,并作为OX-LDL-C的活性成分参与动脉粥样硬化(Atherosclerosis,AS)以及血栓的 形成过程。而在AS斑块的脂质中心聚集了大量的LPA,成为导致AS斑块不稳定的因素。因此,LPA水平是预警缺 血性卒中高危性的指标。     

Ⅱ型糖原累积病的临床与病理分析

目的 分析Ⅱ型糖原累积病临床与骨骼肌病理特点.方法 对1例肌无力、肌张力减低患儿,行开放式骨骼肌活检、组织化学染色病理及临床分析.结果 除骨骼肌病变外,心脏、肝脏、脾脏多脏器受累.骨骼肌特征性病理改变:大量肌纤维胞浆内可见大小不均空泡,内有糖原堆积;酸性磷酸酶活性显著增高,空泡内未见脂滴颗粒.结论 Ⅱ型糖原累积病是累及全身多脏器的代谢性肌病.骨骼肌活检病理诊断是肌糖原累积病的确诊手段.     

肌无力、肌萎缩为首发症状的获得性免疫缺陷综合征一例

获得性免疫缺陷综合征(acquired immune deficiency syndrome,AIDS)为人类免疫缺陷病毒(human immunodeficiency virus,HIV)感染致病,因CD4+T淋巴细胞受损引起细胞免疫缺陷,从而继发感染和肿瘤[1].以肌无力、肌萎缩就诊的AIDS患者少见,现报道1例.     

肢带型肌营养不良2B型与多发性肌炎的临床及病理鉴别诊断

Objective To diagnose and differentially diagnose limb-girdle muscular dystrophy type 2B(LGMD2B)and polymyositis (PM) based on clinical and pathological characteristics. Methods Muscle biopsics were obtained from 8 patients suspected with LGMD2B who were initially diagnosed with PM.The clinical and pathological data from 8 cases of LGMD2B and 4 cases of PM by using histo-and immunohistochemistry with anti-dysferlin,dystrophins,sarcoglycans,MHC-Ⅰ,CD8 monoclonal antibodies were compared.Results (1) LGMD2B and PM shared similar pathological presentations including muscle fibet degeneration and necrosis in various degree,proliferation of connective tissue,and inflammatory cell infiltration.Normal stains of dystrophins and sarcoglycans were observed.whereas absent or very faint staining of dysfedin observed in muscle biopsies of 8 patients confirmed the diagnosis of LGMD2B.while normal stains of dysferlin on sarcolemma were observed in the 4 cases of PM.MHC-Ⅰ was weakly expressed or absent in LGMD2B.while strongly expressed on sarcolemma in PM and the infiltration area of inflammation cells.The expression of CD8 on a few inflammatory cells were positive in LGMD2B.while some inflammatory cells were positive in PM.(2)Both LGMD2B and PM shared similar presentation,including proximal muscle weakness,remarkable elevation of CK,myopathic changes in electromyography.Patients with LGMD2B did not complain of apparent muscle pain.and their erythrocyte sedimentation rate and Creactive protein were in normal range.which could be used as marker to differentiate from patients with PM.Conclusions Clinically and pathologically LGMD2B and PM are presented similarly and likely to be misdiagnosed.The absence of dysferlin in LGMD2B and high expression of MHC-Ⅰ and CD8 in PM are the key index of the diagnosis and differential diagnosis between LGMD2B and PM.     

一个常染色体显性遗传Emery-Dreifuss型肌营养不良家系的基因突变分析

目的 探讨一个常染色体显性遗传Emery-Dreifuss型肌营养不良(Emery-Dreifuss muscular dystrophy,EDMD)家系的临床、病理及遗传学特点.方法 收集家系中2例患者(先证者及女儿)的临床资料及骨骼肌标本,行组织化学染色病理分析;收集先证者及家系成员(3代7人)血液DNA标本,采用聚合酶链反应和DNA直接测序方法 对LMNA基因进行突变检测;明确基因变异位点后对家系行单倍型分析.结果 先证者具有典型的EDMD临床表现:关节挛缩、进行性加重的肌无力和肌萎缩、心脏传导异常;骨骼肌活检病理示肌源性合并轻度神经源性改变;2例患者LMNA基因第9外显子发现杂合错义突变1583(C→G)(T528R),表型正常的其他家系成员未发现该突变;单倍型分析显示先证者及女儿具有相同的致病单倍型.结论 报道了中国人常染色体显性遗传EDMD患者的表现型及基因型.     

一个常染色体显性遗传Emery-Dreifuss型肌营养不良家系的基因突变分析

Objective To investigate the clinical, pathological and genetic characteristics in a family with autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD). Methods Clinical data and skeletal muscle specimens were collected from two patients (the proband and her daughter) for pathological analysis. DNA samples of the proband and her family members (7 persons from 3 generations) were obtained for PCR amplification and direct DNA sequencing of the lamin A/C (LMNA) gene. Haplotype analysis was performed after the identification of mutation. Results The proband had typical clinical manifestation of EDMD: joint contracture, progressive muscle weakness and atrophy and cardiac conduction dysfunction. Muscular pathology revealed myopathic changes combined with slight neuropathic changes. A heterozygous missense mutation 1583 (C→G) (T528R) was identified in exon 9 of the LMNA gene in the two patients, but not in other family members. Haplotype analysis indicated that the proband and her daughter shared the same causative haplotype. Conclusion This is the first report of the phenotype and genotype of AD-EDMD in Chinese.     

肌聚糖病二例临床及病理分析

肢带型肌营养不良(LGMD)是一组进行性加重腰带肌、叫肢近端肌无力、萎缩的遗传性肌病.依据致病基冈不同分为19个亚型.肌聚糖蛋白是肌纤维膜蛋白复合体,其亚基蛋白肌聚糖蛋白-γ、α、β、δ缺陷相应导致的LGMD,统称为肌聚糖病(sarcoglycanopathy)[1].     

特发性炎性肌病分型诊断标准的比较分析

目的 评价Bohan/Peter标准(B/P标准)与欧洲神经肌肉疾病中心(ENMC)标准对特发性炎性肌病分型诊断皮肌炎和多发性肌炎的准确性.方法 回顾性收集86例初诊为特发性炎性肌病患者的临床、实验室及骨骼肌病理资料,分别用B/P标准与ENMC标准进行分型诊断,比较两个标准诊断皮肌炎和多发性肌炎的异同性.数据分析采用SPSS 13.0软件系统进行非参数检验(Mann Whitney U检验)和一致性检验(Kappa分析)方法.结果 B/P标准诊断皮肌炎37例,多发性肌炎49例;ENMC标准诊断皮肌炎46例,多发性肌炎仅14例,其余为嗜酸细胞性肌炎1例、疑诊散发性包涵体肌炎9例,未能分型者5例,肢带型肌营养不良2B型11例.Kappa分析检验两个标准诊断皮肌炎一致性较好(κ=0.79),诊断多发性肌炎一致性差(κ=0.26).结论 B/P标准对多发性肌炎存在过度诊断、误诊风险.ENMC标准纳入免疫病理,增加了临床与病理诊断的排除标准,其分型诊断准确性优于B/P标准.