多发性肌炎/皮肌炎临床和病理研究(附305例分析)

目的:研究多发性肌炎/皮肌炎(PM/DM)的临床、病理特征。方法:回顾性总结305例PM/DM患者的临床资料,根据Bohan标准分为5型,研究其临床表现、血清肌酶学、肌电图、肌肉病理的特点。结果:本病临床上主要有肌无力、肌痛或肌捏痛,CK等血清肌酶增高,肌电图呈肌原性损害。各型肌肉病理均显示免疫炎性改变,以单纯多发性肌炎组织损害程度较重,主要表现为肌纤维散在萎缩、肌肉膜炎;皮肌炎组多为肌束周萎缩、血管炎性病变;肌炎合并恶性肿瘤(CAM)、儿童型肌炎(JPM/DM)、肌炎合并其它结缔组织疾病(CTM)三组血管炎性改变亦较明显。结论:各型肌炎的临床和病理有所不同,发病的免疫病理机制亦有所区别。     

儿童多发性肌炎1例并文献复习

特发性炎性肌病包括多发性肌炎(PM)、皮肌炎(DM)和包涵体肌炎(IBM).PM是一组以获得性肌无力为特征的弥漫性横纹肌非化脓性炎性疾病,不伴有皮肤损害.表现为对称性的近端肌无力、血清肌酶升高、肌电图肌源性损害,病理骨骼肌慢性非感染性炎性改变.病因及发病机制尚未明确.     

间质性肌炎的临床和病理特征

目的　总结间质性肌炎 ( interstitial myositis,IM)临床特点及病理特征 ,探讨 IM的诊断、治疗效果和预后。方法　综合分析作者医院 2 3例 IM的临床资料 ,并与 93例多发性肌炎、3 4例皮肌炎进行比较。结果　 IM临床表现以肌无力、肌肉疼痛、血清酶谱增高、肌电图及病理学异常为特征 ,治疗以激素为主。结论　病理学检查对 IM诊断及疗效判断有重要价值。     

神经肌炎--附26例临床及病理改变

目的 通过研究神经肌炎患者的临床及病理特点来探讨神经肌炎能否作为一种独立的疾病实体。方法 分析26例神经肌炎的临床和病理改变。结果 神经肌炎的主要临床表现为肢体无力、疼痛、肌萎缩。15例肌酶正常，11例肌酶增高，以CK增高为主。肌电图可表现为神经源性损害和／或肌源性损害。病理活检可见神经肌肉大量炎性细胞浸润，神经脱髓鞘改变。结论 神经肌炎与多发性肌炎相比有其独特之处，神经肌炎作为一种独立的疾病，诊断主要依靠肌电图和病理。     

神经性肌炎7例分析

目的:通过对7例多发性肌炎合并周围神经损害(神经性肌炎)患者临床资料的分析以探讨其临床特点。方法:采用回顾性研究方法。结果:神经性肌炎患者血清肌酶水平增高不明显,肌电图有神经性损害,肌肉病理为不典型炎症改变,激素及免疫抑制剂治疗效果不佳。结论:多发性肌炎合并周围神经损害(神经性肌炎)有特殊的临床特点,肌电图和肌活检对诊断有重要意义。     

多灶性运动神经病7例分析

目的 探讨多灶性运动神经病MMN的临床特点、神经电生理及病理变化的特异性.方法 结合文献分析7例MMN的临床资料、肌电图、病理特征及治疗结果.结果 MMN的临床表现为慢性、非对称性远端肢体无力;电生理检查以运动神经传导阻滞或部分阻滞为特点;病理学特征为运动神经局灶性脱髓鞘性改变.结论 MMN应与运动神经元病和慢性炎性脱髓鞘性多发性神经根神经病鉴别.可采用免疫球蛋白治疗.     

胶原血管病伴肌炎69例临床和病理研究

目的:研究胶原血管病伴肌炎(CTM)的临床、病理特征。方法:回顾性总结69例CTM患者的临床资料,研究其临床表现、血清免疫学、肌酶学、肌电图、肌肉病理的特点。结果:本病临床上主要有肌无力、肌痛、关节痛、发热、肌萎缩、雷诺征等;血清免疫学可见免疫球蛋白增高和补体降低,部分患者ANA、ENA阳性;CK等血清肌酶增高不及单纯性多发性肌炎(PM)明显;肌电图呈肌原性损害,也可有神经原性损害。肌肉病理显示免疫炎性改变,表现为区域性肌纤维变性坏死,肌间质血管狭窄、闭塞、炎症细胞浸润,血管炎和肌束周萎缩远较PM常见(P<0.01)。结论:CTM的临床和肌肉病理与PM有所不同,广泛的血管炎性病变是CTM特征性的病理改变。     

脂质沉积性肌病的临床、神经电生理和骨骼肌病理分析

目的 探讨脂质沉积性肌病(LSM)的临床表现、神经电生理及肌肉病理特点.方法 回顾分析16例LSM的临床表现、肌电图和神经传导、肌肉活检病理改变.结果 LSM主要临床特点为亚急性或慢性起病,以近端肌无力为主,症状呈波动性,肌无力重而肌萎缩轻.血清肌酶有不同程度的升高,肌电图多为肌源性损害,激素、核黄素治疗有效.临床上容易误诊为多发性肌炎、肌营养不良症、心肌炎、胃肠道疾病等.肌肉病理学特点为肌纤维内可见大量均匀的小筛孔样空泡,部分空泡融合成大泡或形成裂隙状.ORO染色证实筛孔样空泡被大量红染的脂肪颗粒充填,受累肌纤维以Ⅰ型纤维为主.4例患者行电镜检查可见肌原纤维间有大量脂滴沉积,其中1例伴有异常线粒体增多.结论 LSM是一种以易疲劳和肌无力为主要临床表现的脂质代谢障碍性肌病,肌无力较重而肌萎缩轻.神经电生理改变相对较轻,部分患者肌电图为肌源性损害.激素、核黄素治疗可获得良好疗效,肌肉活检病理学检查是诊断LSM的重要手段.     

多发性肌炎与皮肌炎（附20例临床分析）

目的 探讨多发性肌炎与皮肌炎的临床特点。方法 回顾性地分析了20例多发性肌炎与皮肌炎患者的临床资料,并结合文献复习其肌电图表现,病理特点,肌酶变化特点及治疗进展。结果 20例均表现出不同程度和不同部位的肌无力和肌萎缩。部分病例伴有皮肤损害和其他系统的损害。大部分病例肌酶均明显升高,肌电图以肌源性损害为主,异常率达95%,6例肌肉活检的病理表现出特征性的改变。结论 多发性肌炎和皮肌炎是一组以肌无力和肌萎缩为主要表现的自身免疫性疾病,本病的诊断应结合临床资料,肌酶和肌电图检查,有条件应行肌肉活检进行确诊,同时应进行全身各系统的全面检查寻找可能存在的恶性疾病。治疗可用激素,免疫抑制剂等,也可试用免疫球蛋白和甲基强地松龙冲击治疗。     

特发性肌炎临床与病理分析

目的 研究特发性肌炎临床及肌活检病理的特点。方法 对86例多发性肌炎,41例皮肌炎惠的临床、肌电图、血清肌酶及经开放性手术获得肌活检标本的病理特点进行分析。结果 特发性肌炎：(1)近端肌无力88．9％,远端肌无力622％,吞咽困难37.8%,颈肌无力18．1％,肌痛276％。(2)肌活检病理：坏死63．8％,萎缩37．8％,再生354％,间质炎236％,束周萎缩11．8％。结论 多发性肌炎和皮肌炎临床症状、肌电图、血清肌酶等除皮损外,无很大差异,诊断特发性肌炎肌肉活检是重要手段;束周萎缩为皮肌炎的特征性的病理改变;肌痛虽是特发性肌炎较为特征临床表现,但仅见于部分患。     

炎症性肌病247例临床与病理研究

目的探讨多发性肌炎（PM）、间质性肌炎（IM）与神经肌炎（NM）的临床特点及神经肌肉活检的诊断价值。方法回顾分析247例炎症性肌病的临床表现及神经肌肉活检结果。结果3组临床表现相似,为近端肌无力、肌痛等;均有不同程度的肌酶增高,但PM组增高明显;IM和NM具有PM的病理改变,但炎性程度不及PM,又各有其特异性,IM组为炎性细胞浸润间质,NM组神经活检多有髓鞘脱失、炎性细胞浸润。结论PM、IM、NM炎性肌病的临床表现相似,诊断困难,需结合神经肌肉活检等辅助检查才能作出正确的诊断。     

Chronic focal polymyositis in the adult

Four patients with chronic focal polymyositis are described. Treatment with steroids appeared to halt clinical progression. The clinical features in all four cases were so strikingly similar as to constitute a syndrome which can be mistaken for muscular dystrophy or spinal muscular atrophy unless investigated fully.     

脂质沉积性肌病的临床分析（附2例报道）

目的：对2例脂质沉积性肌病（LSM）的临床资料予以分析报道。方法：收集2例经病理检查确诊的LSM病例的临床资料,结合相关文献分析其临床表现、病理特征和实验室检查结果。结果：LSM临床以肢带肌近端无力为主要表现,有明显的运动不耐受特点,部分受累肌有压痛;肌电图示以肌源性损害为主;肌酶以肌酸激酶轻中度升高为主,对糖皮质激素反应早且明显;病理特征为肌纤维内有大量脂质颗粒沉积,并以Ⅰ型肌纤维为主。结论：LSM以肢带型肌无力综合征为临床表现时极易误诊为多发性肌炎等,确诊依赖于肌肉病理学检查。     

肯尼迪病的临床特征与基因突变四例

目的探讨肯尼迪病(KD)的临床特征与基因突变。方法分析4例经基因确诊的KD患者的临床资料。结果 4例患者均为男性,发病年龄分别为35、47、48、36岁,例2有家族史,例4既往双手静止性震颤10余年,4例均以肢体无力起病并以肢体无力为主要症状,例2、例3、例4伴有舌肌萎缩及纤颤,例4伴明显的面部及腹部肌肉跳动。例1初诊未确诊,例2误诊为肌炎,例3误诊为运动神经元病。4例血清肌酸激酶均升高;肌电图(EMG)4例均呈广泛慢性神经源性损害;例1、例2、例3肌肉病理示神经源性损害伴肌源性损害;4例患者雄激素受体基因外显子中CAG重复序列次数均40(分别为53、51、49、52)。结论 KD的临床特点为缓慢进展的延髓和四肢近端肌肉萎缩无力,可伴有内分泌或代谢异常;肌肉病理以神经源性损害为主,多伴肌源性损害。KD临床表现常不典型,需与多种疾病鉴别,基因检测可确诊。     

周围神经病理检查在慢性炎性脱髓鞘性多发性神经根神经病诊断中的价值

目的探讨周围神经病理检查在不典型慢性炎性脱髓鞘性多发性神经根神经病(CIDP)诊断中的价值。方法收集12例CIDP患者的临床和电生理资料,结合病理检查结果,评价周围神经活检在诊断CIDP中的价值。结果12例患者中有9例分别误诊为亚急性联合变性2例,颈、腰椎间盘突出,小脑性共济失调,多发性神经纤维瘤,肌炎,进行性脊肌萎缩症和末梢神经炎各1例。电生理检查12例患者中有9例未达到CIDP的诊断标准,但全部患者的病理检查均有不同程度的大、中型有髓纤维减少和髓鞘脱失,其中10例有淋巴细胞浸润,支持炎性脱髓鞘性神经病的诊断。结论CIDP的电生理诊断标准有可能会导致误诊;临床疑为CIDP而电生理不支持时,周围神经活检可提供一定的帮助。     

慢性进行性眼外肌瘫痪的临床和病理学特点

目的探讨慢性进行性眼外肌瘫痪(CPEO)的临床和骨骼肌病理学特点。方法回顾性分析6例CPEO患者的临床及病理资料。结果6例CPEO患者4~18岁起病,首发症状为眼睑下垂,主要临床表现为眼球活动受限,并有肢体易疲劳、无力,血清肌酸激酶轻到中度升高;5例肌电图呈肌源性损害。肌肉病理学检查可见散在的破碎红纤维(RRF),细胞色素C氧化酶(COX)活性减低/缺失;4例患者可见少量变性、坏死肌纤维;3例油红"O"染色见脂滴增多;电镜下可见肌纤维膜下、胞浆中线粒体数量增多、聚集,形态异常,可有结晶状的包涵体。结论CPEO临床主要表现为眼外肌瘫痪合并肢体肌无力;骨骼肌病理显示大量RRF及COX活性减低/缺失提示和支持CPEO的诊断;CPEO确诊需在骨骼肌病理诊断基础上行基因测序。     

135 cases of polymyositis

The classification of 135 patients with either dermatomyositis (DM) or polymyositis (PM) showed 34 cases of DM and 56 cases of PM in adults, 6 cases of DM associated with cancer, 9 cases of DM in children, 16 cases of localized PM and 14 cases of an overlapping syndrome. Results of biological tests, erythrocyte sedimentation rate and serum enzyme determinations were inconstantly abnormal. The electromyograms were generally of a myogenic type with spontaneous activity in about half the cases. Muscle biopsy usually showed inflammation necrosis and regeneration, sometimes only of moderate severity only. Results were normal in several cases. In 21 patients only the pathognomonic perifascicular atrophy was reported. Proposed classifications are unsatisfactory. Polymyositis may be considered as a syndrome. Among the primary forms the distinction between acute dermatomyositis and subacute or chronic polymyositis is poorly defined and passage from one disorder to another is frequent. Pseudo-myasthenic forms are not entities and pseudo-myopathic types are actually muscular dystrophies. Associations with polymyositis are common and may consist only in the addition of one sign of no clinical significance (PM "plus"). The polymyositis lesion may be part of a syndrome such as Gougerot-Sj?gren's or of another connective tissue disease. A system of diagnostic criteria uses numerical ratings of each criterion as a function of its semiologic importance.     

成人型近端脊髓性肌萎缩症的临床和肌肉病理学研究

目的 总结成人型近端脊髓性肌萎缩症(ASMA)临床和肌肉病理学特征，以提高对ASMA的认识。方法 对27例完成肌肉活检的ASMA患者进行临床及肌肉病理学分析。结果 该病多于45岁左右发病，起病及进展均缓慢，主要表现为近端肌肉无力、肌肉萎缩、肌束震颤，锥体束和周围神经一般不受累。4例患者肌酶增高。所有患者肌电图检查示神经源性损害，其中2例伴肌源性改变。肌肉活检光镜下见神经源性肌萎缩，其中3例伴肌源性损害。电镜下见肌原纤维数量减少、排列紊乱、部分断裂，Z线变粗或呈波浪样以及肌核聚集。结论 结合临床表现进行肌肉活检对ASMA诊断及鉴别诊断具有重要价值。     

Idiopathic inflammatory myopathies in childhood: a brief review of 27 cases

The most common idiopathic inflammatory myopathies in children include juvenile dermatomyositis, juvenile polymyositis, and myositis associated with another autoimmune disease (overlap myositis). Idiopathic inflammatory myopathies manifest different characteristics affecting children. Only a few investigations of childhood idiopathic inflammatory myopathies were reported, involving 27 patients. In addition, clinical findings, serum muscular enzyme levels, results of electromyography studies, muscle biopsy features, and treatment responses were studied. Seventeen female and 10 male were classified as exhibiting juvenile dermatomyositis (n = 19), juvenile polymyositis (n = 6), or overlap myositis (n = 2). Overlap myositis was associated with systemic sclerosis and systemic erythematous lupus. The mean age at onset was 6.1 years for juvenile dermatomyositis, 4.9 years for juvenile polymyositis, and 8.5 years for overlap myositis. The most common signs included proximal weakness and myalgia. The serum creatine kinase level was increased in 48.2% of patients. An electromyography study revealed myopathic features in 85% of patients. Muscle biopsies led to observations of inflammatory infiltrates with preferential perivascular involvement in the juvenile dermatomyositis group, and endomysial involvement in the juvenile polymyositis group. Fiber atrophy was predominantly perifascicular in the juvenile dermatomyositis group. Treatment with prednisone improved the findings in 81.5% of children.     

Single skinned muscle fibers in Duchenne muscular dystrophy generate normal force

We measured the intrinsic mechanical properties and protein content of single skinned muscle fibers obtained from patients who had Duchenne muscular dystrophy. To check for possible nonspecific changes caused by muscle disease per se, we also studied the properties of muscle fibers obtained from patients exhibiting severe muscle weakness due to polymyositis. Relative to control fibers obtained from 4 patients with normal or nonmyopathic muscle, we found no significant changes in the ability of muscle fibers from the patients with Duchenne muscular dystrophy or polymyositis to generate active tension in response to calcium or resting tension in response to stretch. In addition, we found no significant changes in the concentrations of the major contractile proteins myosin and actin, of the elastic protein titin, or of the structural proteins nebulin and alpha-actinin. In contrast, immunocytochemical studies showed that dystrophin was absent in the biopsy specimens from the patients with Duchenne muscular dystrophy, but localized at the cell membrane in all of the other muscle biopsy specimens used in this study. These results indicate that myofibrils assemble and function normally in Duchenne muscular dystrophy. Therefore, the absence of dystrophin, which is the primary biochemical defect in this disease, leads to clinical weakness by causing the breakdown of muscle fibers that were once capable of generating normal force, while the surviving fibers exhibit normal contractility.