散发性包涵体肌炎临床、电生理及病理特点

目的探讨散发性包涵体肌炎的临床、电生理及病理特点。方法回顾性分析5例散发性包涵体肌炎患者的临床资料。结果 5例患者均为男性,发病年龄30~54岁,平均43.2岁,出现症状至确诊平均8年。5例患者受累肌肉分布无规律,肌酸激酶正常或轻度增高,EMG呈肌源性损害、部分伴神经源损害或周围神经损害或肌强直电位,肌肉活检5例均有镶边空泡伴肌纤维炎性浸润,1例见不整边红纤维,电镜下3例有管丝包涵体。结论因无特征性临床表现,散发性包涵体肌炎早期诊断较为困难,其诊断主要依赖于肌肉活检。     

包涵体肌炎11例临床及组织病理报告

目的 探讨包涵体肌炎的诊断标准。方法 分析了11例包涵体肌炎病人的临床表现、组织化学。碱性刚果红染色9例，电镜检查2例。结果 全部病人均在42岁后发病，表现为远、近端肌肉力弱，2例肌电图检查显示肌源性改变，11例均有边缘着色性空泡及炎性改变，9例有淀粉样蛋白沉积物，有胞核或胞质细丝包涵体各1例。结论 包涵体肌炎的所有诊断指标中，无一项有决定性或行征性，需要进行综合判断。     

包涵体肌炎11例临床及组织病理报告

目的探讨包涵体肌炎的诊断标准.方法分析了11例包涵体肌炎病人的临床表现、组织化学.碱性刚果红染色 9例,电镜检查2例.结果全部病人均在42岁后发病,表现为远、近端肌肉力弱,2例肌电图检查显示肌源性改变,11例均有边缘着色性空泡及炎性改变,9例有淀粉样蛋白沉积物,有胞核或胞质细丝包涵体各1例.结论包涵体肌炎的所有诊断指标中,无一项有决定性或特征性,需要进行综合判断.     

包涵体肌炎（附1例报告并文献复习）

报道一例包涵体肌炎患者，女，２５岁。表现为缓慢进展的两下肢无力５年，近半年两上肢亦无力。两侧肩胛带及骨盆带肌肉轻度萎缩，肌电图示轻收缩时运动电位平均时限缩短，多相电位增多。肌活检见部分肌纤维内出现空泡，在空泡的边缘或空泡内有嗜盐基性颗粒状物质，Ⅰ型、Ⅱ型肌纤维均受累。结合文献对其病因、临床表现、肌肉病理改变、诊断和治疗进行了讨论     

15例神经肌炎临床分析

目的 探讨神经肌炎的临床特点、实验室检查及诊断标准。方法 对15例神经肌炎患者的临床表现及实验室检查的资料进行分析。结果 发现此病患者有如下特点：15例患者均有不同程度肌无力，2例伴有肌肉酸痛；所有患者均有不同程度血清肌酶升高，其中10例超过正常5倍；全部患者肌电图异常，其中13例呈神经或肌肉神经混合损害，2例呈肌源性损害；14例肌活检中13例呈肌炎性改变，1例病程超过3年者呈肌病改变。结论 临床表现结合实验室检查可以诊断神经肌炎，早期诊断治疗与预后有关。     

包涵体肌炎的肌肉病理

1967年Ｃｈｏｕ报道 1例“粘液病毒样结构慢性多发性肌炎”的 66岁男性患者 ,随后Ｓａｔｏ、Ｃｈｏｕ等和Ｃａｒｐｅｎｔｅｒ等报道 1例 ,1 971年Ｙｕｎｉｓ和Ｓａｍａｈａ报道 1例 2 6岁女性患者 ,光镜下可见细胞核、细胞质包涵体 ,电镜下可见微丝。首先提出包涵体肌炎 (ｉｎｃｌｕｓｉｏｎｂｏｄｙｍｙｏｓｉｔｉｓ,ＩＢＭ)这一概念[1 ,2 ] 。 1 978年Ｃａｒｐｅｎｔｅｒ等[2 ] 提出与多发性肌炎 (ＰＭ)、皮肌炎 (ＤＭ)的鉴别要点 ,认为ＩＢＭ主要累及远端肌肉 ,并发胶原血管病及恶性肿瘤罕见 ,皮质类固醇治疗无效。组织学可见线状空泡、…     

dysferlinopathy患者八例临床及分子病理学特点

目的探讨中国dysferlinopathy患者的临床及分子病理学特点。方法分析已确诊的4例肢带型肌营养不良2B型、4例Miyoshi远位型肌营养不良患者的临床、骨骼肌活体组织检查和免疫组织化学染色病理特点。并以Duchenne肌营养不良4例，多发性肌炎和包涵体肌炎各2例作为对照。结果dysferlinopathy患者均以进行性加重的肌无力、萎缩为主要症状，符合进行性肌营养不良的临床表现。组织化学染色示dysferlinopathy患者出现不同程度的肌纤维变性、坏死、再生，结缔组织增生；多数病例可见炎性细胞浸润；抗dysferlin单克隆抗体免疫组织化学染色显示8例dysferlinopathy患者均出现dysferlin蛋自在肌纤维膜上和胞质内的缺失。结论（1）dysferlinopathy符合进行性肌营养不良的临床、病理表现；（2）抗dysferlin单克隆抗体免疫组织化学染色病理分析是诊断dysferlinopathy的可靠方法，值得临床推广应用。     

散发性包涵体肌炎研究进展

最近的研究提示散发性包涵体肌炎的发病机制可能与免疫炎性反应、细胞变性、异常蛋白聚集、线粒体异常等有关,对于包涵体肌炎的诊断主要依赖病理诊断,免疫调节治疗可能有效。本文就包涵体肌炎发病机制的研究、临床表现及治疗等有关方面的最新进展进行了简要综述。     

包涵体肌炎

报道一例包涵体肌炎患者，女，２５岁。表现为缓慢进展的两下肢无力５年，近半年两个肢亦无力。两侧肩胛带及骨盆带肌肉轻度萎缩。肌电图示轻收缩时运动电位平均时限缩短，多相电位增多。肌活检见部分肌纤维内出现空泡，在空泡的边缘 泡内有嗜盐基性颗粒状物质，Ⅰ型、Ⅱ型肌纤维无受累。     

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。     

三例包涵体肌炎的临床与病理特点

目的探讨包涵体肌炎（ＩＢＭ）的临床与病理特点。方法总结３例ＩＢＭ病人的临床特点，并对肌活检标本进行酶组织化学、组织化学病理和超微病理研究。结果３例女性病人均在２４～３６岁发病，其临床特点为以双下肢无力起病，渐累及上肢，远端肢体受累常见。腱反射消失，血清肌酸激酶正常或轻度增高，肌活检光镜检查发现其主要病理改变为镶边空泡纤维，肌浆或肌核内有嗜酸性包涵体，肌内膜炎性细胞浸润和成群萎缩肌纤维。电镜观察发现３例均有肌浆内细丝或管状细丝包涵体，其中１例有核内包涵体。镶边空泡内含淀粉样细丝、髓样结构、絮状无结构物质和其他胞浆分解产物。肌核改变包括异染色质增多、核变大，核内包涵体及核崩解。结论电镜包埋、半薄切片定位是电镜下寻找包涵体并确诊ＩＢＭ的关键步骤。肌核改变可能是ＩＢＭ的病因基础，镶边空泡和肌浆内包涵体有可能来自于崩解的肌核。     

脂质沉积性肌病临床及病理特点

目的探讨脂质沉积性肌病（ＬＳＭ）的临床及病理特点。方法报告４例ＬＳＭ的临床特点，并对治疗前后的肌肉活检进行病理研究。结果４例患者均表现为进行性四肢无力，以近端肌为重，其中１例以活动后肌无力明显加重为主。血清肌酶谱增高或正常。肌电图以肌源性损害为主。肌肉病理检查（光、电镜下）示肌纤维中大量脂质颗粒沉积，Ⅰ型肌纤维受累重。经低长链脂肪酸饮食、激素，核黄素治疗，症状基本恢复，复查肌肉病理示肌纤维中脂质颗粒基本消失。结论ＬＳＭ是一种病因尚未完全阐明的疾病，临床以不能耐受运动和近端肌无力为主要表现，肌肉病理检查有助于确诊，ＬＳＭ是可以治疗的。     

脂质沉积性肌病的临床和病理特点

目的从临床和肌肉病理的角度分析脂质沉积性肌病（ＬＳＭ）的特点。方法收集２０例ＬＳＭ病人的临床资料，并做肌肉活检，采用常规组织学方法和组织化学方法染色，并在电镜下观察。结果结合临床和病理特点可将病例分为两组，第一组为急性或亚急性起病，四肢近端肌无力，肌酶谱明显升高，对激素治疗敏感；第二组呈慢性迁延性病程，表现肌无力和对运动不耐受，对激素治疗不敏感，肌纤维内线粒体异常比较明显。对２０例病人的肌肉活检发现Ｉ型肌纤维为主的肌纤维空泡样变，油红“Ｏ”染色示脂滴明显增多，电镜也证实肌纤维内脂滴堆积，部分病例伴有异常线粒体增多。结论脂质沉积性肌病是一组生化方面十分复杂的疾病，属于线粒体肌病的一个类型，临床上以不能耐受运动和近端肌无力为主，病程呈波动性，部分可有自发缓解，肌肉病理检查有助于确诊。两组的临床病理差异可能提示脂肪代谢障碍的不同环节或不同酶的缺陷。     

Inclusion body myositis. A corticosteroid-resistant idiopathic inflammatory myopathy

In seven patients with slowly progressive muscle weakness, inclusion body myositis (IBM) was diagnosed on biopsy. None had stigmata of collagen-vascular disease or malignancy. Serum creatine kinase levels were mildly or moderately increased. The six patients treated with prednisone did not improve. Needle electromyography showed a "myopathic" pattern in all patients, but four also had diffuse neurogenic changes with normal nerve conductions. Histologic study of muscle showed a mixture of small rounded fibers varying in size, atrophic angulated fibers forming small groups, and hypertrophic fibers. Variable amounts of inflammation, necrosis, and regeneration were seen in all specimens. All showed numerous intracytoplasmic vacuoles lined with purple-blue granules. Electron microscopy showed membranous whorls and masses of abnormal filaments measuring 14 to 18 nm in diameter. Although IBM seems to be a distinct type of inflammatory myopathy, its etiology and pathogenesis are not clear.     

Vascular involvement in benign infantile mitochondrial myopathy caused by reversible cytochrome c oxidase deficiency

A 1-month-old Japanese girl had profound generalized weakness, hypotonia, and severe lactic acidosis. The infant improved gradually: she held her head at 9 months, learned to walk by 15 months. At the first muscle biopsy at 11 weeks of age, the specimen was characterized by numerous ragged-red fibers and decreased enzyme activity on cytochrome c oxidase (COX) staining. Electron microscopic findings were characterized by the presence of excessive abnormal mitochondria not only in skeletal muscle fibers but also in blood vessels. Vascular abnormalities consisted of an increased number of enlarged mitochondria in endothelial and smooth muscle cells of small arteries. Biochemical analysis showed an isolated defect of COX activity, which was only 16% of the mean control level. At the second biopsy at 44 months of age, the COX activity had increased to normal in the entire specimen. On electron microscopy, the abnormal mitochondria present on the first biopsy specimen had disappeared both in muscle fibers and blood vessels; nearly all mitochondria were morphologically normal at the second biopsy. Now at 5 years of age she can run and does not show muscle weakness. We report reversibility of abnormal mitochondria with age not only in skeletal muscle fibers but also in blood vessels in a patient, who had reversible COX deficiency with a benign clinical course.     

Glucocorticoid-sensitive hereditary inclusion body myositis

We report a hereditary muscle disorder with features of inclusion body myositis (IBM) in two adult sisters with slowly progressive asymmetrical muscle weakness. The findings of light microscopic and ultrastructural investigations of muscle biopsy specimens were consistent with a diagnosis of IBM. Both patients improved and stabilized on immunosuppressive treatment with corticosteroids and azathioprine. This differentiates our patients from other sporadic and familial cases of IBM. Clinical and histological features are described and compared with those of other previously reported families with IBM.     

Inclusion body myositis: clinical, morphological, physiological and laboratory findings in 18 cases

Eighteen consecutive patients with inclusion body myositis (IBM) were studied. The mean age of onset of symptoms was 60 years. A typical clinical pattern with insidious onset of muscle weakness in knee extensors and finger flexors combined with dysphagia was observed. Serial measurements of the maximal voluntary muscle strength revealed a mean loss of muscle strength of 1.4% per month. Two of the cases had common variable immunodeficiency, and three cases had reduced levels of the IgG3 subclass. Treatment with prednisone resulted in a temporary improvement of muscle function in three patients. No positive effect of azathioprine or cyclosporine A could be documented. The results show that IBM may be associated with immunodeficiency, and that prednisone treatment may temporarily improve the clinical signs. The results from our studies on the progression of the muscle weakness may provide basis for future studies on treatment of IBM.     

A case of senile onset rimmed vacuole myopathy with proximally dominant involvement

A 73-year-old woman with progressive proximal-dominant muscular atrophy and weakness was described. She had been well until 70-year-old, when she found difficulty in standing up from sitting position. At age 72 years, she could not raise her arms. Neurological examination showed muscular wasting and weakness in the proximal parts of extremities, shoulder and pelvic girdle. In the thigh, the flexors and adductors were severely affected. Muscular weakness was also observed in m. tibialis anterior. Serum CK and aldolase were normal. Electromyography showed low voltage short duration motor unit potentials with positive sharp waves and fibrillations. Rimmed vacuoles were observed in 4.8% of muscle fibers in biopsy sample obtained from right m. quadriceps femoris. No inflammatory cells, PAS-positive materials and inclusion bodies were observed in the sample. This case differs from distal myopathy with rimmed vacuoles, because the onset was very late and her muscular weakness and atrophy was proximal dominant. This case also differs from inclusion body myositis, because muscle biopsy revealed no inflammatory cells or inclusion body.     

Inclusion‐body myositis presenting with facial diplegia

Introduction: The hallmark clinical presentation of inclusion‐body myositis (IBM) is slowly progressive weakness that characteristically affects the quadriceps and finger and wrist finger flexor muscles. Facial weakness can also occur, but it is typically mild and not a prominent finding. Methods: We describe the clinical features, laboratory investigations, and muscle biopsy findings in a 58‐year old man who presented with a 6‐year history of marked progressive symmetrical facial weakness. Examination also showed shoulder abduction and hip extensor weakness. Results: The patient's serum creatine kinase level was 655 U/L, and electromyography showed fibrillation potentials and myopathic motor unit potentials. A biopsy specimen of the left biceps muscle was pathognomonic for IBM. Conclusions: This patient did not have a typical presentation for IBM but rather fulfilled the pathological criteria for IBM. To our knowledge, facial diplegia has not been reported previously as a presenting manifestation of IBM. Muscle Nerve 49 : 287–289, 2014     

原发性肉碱缺乏致脂质沉积性肌病的临床与病理特点

目的 分析原发性肉碱缺乏致脂质沉积性肌病（LSM）的临床与病理特点。方法 回顾性分析4例可能LSM患者的临床资料。结果 本组患者为亚急性或慢性起病，主要表现为近端肌无力，疲劳不能耐受；血清肌酶有不同程度的升高；肌电图示肌源性损害；病理检查示肌纤维内可见大量细小空泡和裂隙形成；MGT染色无破碎红纤维，油红O染色显示空泡为大量脂滴充填；受累纤维以Ⅰ型纤维为主。电镜证实肌纤维内脂滴堆积，可伴有线粒体的轻度增多。改善能量和糖皮质激素治疗有效。结论原发性肉碱缺乏致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，病理改变以肌纤维内脂滴堆积为主，一般不伴有线粒体结构的明显异常。糖皮质激素治疗可获得良好疗效。