共查询到18条相似文献,搜索用时 218 毫秒
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目的分析2例不同遗传方式中央轴空病患者的临床、肌肉影像学、病理学及基因突变特点,比较其临床表型和分子遗传学的异同点。方法详细收集2例患者的临床资料、肌肉MRI及病理学,靶向捕获二代测序进行基因检测,Sanger测序验证及家系共分离分析。结果 2例分别为常染色体隐性(autosomal recessive,AR)和显性(autosomal dominant,AD)患者,表现儿童早期起病,四肢近端无力伴萎缩,面肌受累;双下肢肌肉MRI见广泛肌肉萎缩及脂肪浸润,股直肌回避;病理氧化酶染色见肌纤维典型的轴空结构,AR型存在偏心轴空;发现斯里兰卡肉桂碱受体1(Ryanodine receptor 1,RYR1)基因的3个错义突变,其中一个未报道。结论本研究的2例经典型患者存在不同遗传方式,在临床表型、受累肌群分布及病理存在诸多异同,可能与RYR1基因的不同突变形式相关,靶向二代测序可以提高确诊率。 相似文献
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目的 分析脂质沉积性肌病 (L SM)的临床表现和病理特点及误诊原因。方法 对 11例经肌肉活检证实的 L SM患者进行临床和肌肉病理分析。结果 11例均表现近端肌无力和肌疲劳现象 ,其中 3例曾误诊为多发性肌炎 ,1例误诊为重症肌无力 ,1例发病 9年未确诊。 11例的肌肉活检显示肌纤维内出现大量的脂肪滴。结论 L SM是一组生化方面十分复杂的疾病 ,临床上以不能耐受运动和近端肌无力为主 ,病程可波动 ,部分可自发缓解 ,临床易误诊 ,肌肉病理检查有助于确诊 相似文献
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报道1例因伴发周围神经炎住院,后经肌肉活检,肌电图检查及2年随诊观察确诊为中央轴空肌病的患者,并对本病的病因,病理,临床特点及神经电生理改变作了简要介绍。 相似文献
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报道 1例因伴发周围神经炎住院 ,后经肌肉活检、肌电图检查及 2年随诊观察确诊为中央轴空肌病的患者。并对本病的病因、病理、临床特点及神经电生理改变作了简要介绍 相似文献
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目的探讨多微小轴空病(MmD)的临床表现、病理特点、诊断标准及预后。方法总结1例MmD患儿的临床表现和肌肉病理改变等临床资料,结合复习国内外文献进行综合分析。结果 MmD多于婴儿或儿童期起病,表现为肌肉无力、运动迟缓,肌肉病理呈典型微小轴空样改变,目前无特效疗法。结论 MmD可根据临床表现、辅助检查确诊,肌肉活检是诊断MmD并与其他类似肌病相鉴别的重要手段。 相似文献
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中央轴空肌病1例报告 总被引:1,自引:0,他引:1
中央轴空肌病是一种非进行性的肌病 ,婴儿期发病 ,主要表现为运动发育迟缓 ,肌张力低 ,肢体近端肌无力。该病较为罕见 ,易误诊 ,现报告 1例经肌活检确诊的中央轴空肌病患者如下。1 病例 男 ,1岁。因进行性四肢无力 9个月 ,颈肌无力 5个月 ,于 1997年 9月 19日入院。患者出生后 3个月家人即发现其下肢蹬踢无力 ,上肢握持无力 ,四肢活动范围小 ,肌无力进行性加重。 3个月时可抬头 ,但 10个月时不能竖颈或后仰 ,1岁时仍不能站立。患者第 1胎足月顺产 ,父母亲职业均无毒物接触 ,均不嗜烟酒。母亲怀孕时健康 ,无药物应用不当 ,无病毒感染史。母… 相似文献
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线粒体胃肠肌病二例的临床与病理研究 总被引:1,自引:3,他引:1
目的 报道2例以胃肠道功能异常和肌无力为主要表现的线粒体病,探讨本病的诊断规律。方法 2例男性患者分别为13岁和6岁,在6岁和4岁5个月时起反复出现胃肠道症状和持续性肌无力,无眼外肌瘫痪和中枢神经系统损害的表现,头颅CT和MRI检查无异常,对2例患者进行肌肉活检和线粒体基因检查。结果 肌肉活检证实2例患者的骨骼肌存在大量典型的不整红边纤维和琥珀酸脱氢酶深染的肌纤维,肌纤维内糖原和脂肪滴增多。电镜检查显示肌纤维内出现大量巨大线粒体,部分线粒体内出现环状排列的嵴或类结晶包涵体,肌纤维内糖原和脂肪滴增多。基因检查示2例患者分别存在线粒体基因3243点突变和3271点突变。结论 胃肠道功能异常和肌无力可以作为主要临床症状组合出现在线粒体病中,由于2例患者的临床表现不同于以前报道的线粒体脑肌病,应诊断为线粒体胃肠肌病,可能属于线粒体病一个新的临床病理亚型。在寻找儿童慢性胃肠功能异常的病因时应考虑到本病的可能。 相似文献
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成人型杆状体肌病二例临床病理和超微结构研究 总被引:1,自引:1,他引:1
目的 探讨成人型杆状体肌病的临床病理和超微结构特点。方法 对2例成人型杆状体肌病患者的肌肉组织病理和超微结构进行观察。结果 2例患者均以颈肌无力起病,以后四肢和躯干肌不同程度受累,无骨骼发育畸形。肌肉组织病理改变的特点为选择性I型纤维萎缩,改良Gomori三色法染色可见萎缩纤维内含大量深紫色颗粒状物。例1发现大量中央核纤维。电镜观察可见肌原纤维排列紊乱,大量杆状体形成。在例1的肌核内发现核内包涵体,结构特点与胞质内的杆状体相似。结论 成人型杆状体肌病临床缺乏特征性。肌肉病理中央核可与杆状体同时出现,与婴儿型和儿童型杆状体肌病相比,成人型患者肌纤维萎缩明显。肌核内可出现包涵体,其结构与胞质内杆状体一致。 相似文献
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The spectrum of pathology in central core disease 总被引:6,自引:0,他引:6
Sewry CA Müller C Davis M Dwyer JS Dove J Evans G Schröder R Fürst D Helliwell T Laing N Quinlivan RC 《Neuromuscular disorders : NMD》2002,12(10):948-938
Central core disease is a congenital myopathy with muscle weakness defined pathologically by the presence of extensive areas in muscle fibres that are devoid of oxidative enzyme activity. The gene responsible has been shown to be the ryanodine receptor 1 on chromosome 19q13 and mutations have now been identified in several patients. Some cases with the morphological defect remain molecularly undefined, particularly those studied before molecular studies were available. We have studied three families with congenital onset, each with a dominantly inherited mutation in a C-terminal exon of the ryanodine receptor 1. They illustrate the spectrum of pathology that can be observed in patients with the myopathic features of central core disease. We show that extensive fibrosis and fat may be present, type 1 fibre uniformity may occur in the absence of cores; cores may be central or peripheral, single or multiple; and that an appearance of multiple focal minicores might cause a diagnostic pathological dilemma. In addition, we show the value of immunocytochemistry in identifying cores, in particular the use of antibodies to desmin and γ-filamin. 相似文献
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强直性肌营养不良症的临床与肌肉病理学特点 总被引:1,自引:0,他引:1
目的探讨强直性肌营养不良症(DM)的临床及肌肉病理学的特点。方法对6例DM患者的临床资料进行回顾性分析。结果6例患者均呈慢性病程,以肌无力、肌强直和肌肉萎缩为主要表现,多伴有脱发、白内障、心脏传导阻滞等多系统损害。肌电图检查结果为肌源性损害,6例均可见肌强直电位发放。病理学检查见肌纤维核内移、核袋及核链现象,部分患者可见肌质块及肌纤维分布异常。结论DM是一种以肌无力和肌强直为主要表现的多系统损害的遗传性疾病;特征性病理改变为肌纤维核内移、核链以及肌质块、肌纤维分布异常。 相似文献
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目的分析强直性肌营养不良(DM)的临床特点,以提高对DM疾病的认识及诊断水平。方法对21例DM患者的临床资料进行回顾性总结与分析。结果 21例患者均为慢性起病,以双手无力,活动不灵活起病多见,其中5例有家族史,部分病例伴有心脏、眼部、内分泌及中枢神经系统等其他多系统损害。19例行肌电图检查提示肌源性损害,其中16例发现有肌强直电位。10例行肌活检,主要表现为部分肌纤维萎缩,变性、坏死肌纤维,核内移及肌浆块形成,部分萎缩纤维内可见无结构胞浆体。1例强直性肌营养不良蛋白激酶(DMPK)基因CTG重复序列分析发现拷贝数超过正常范围。结论 DM是一种主要累及肌肉系统,以肌强直、肌无力和肌萎缩为主要临床表现并伴有多系统损害的疾病。综合评估多系统损害并结合肌肉的电生理学及病理学检查,有助于提高对DM的认识;在有条件的医疗机构可以开展DM基因诊断,对DM确诊很有意义。 相似文献
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Sathiyabama Dhinakaran Rashmi Santhosh Kumar Ravindra Thakkar Gayathri Narayanappa 《Annals of Indian Academy of Neurology》2016,19(2):201-204
Background:Congenital myopathies (CMs) though considered distinct disorders, simultaneous occurrence of central nucleus, nemaline rods, and cores in the same biopsy are scarcely reported.Objective:A retrospective reassessment of cases diagnosed as CMs to look for multiple pathologies missed, if any, during the initial diagnosis.Results:The study revealed 15 cases (12%) of congenital myopathy with more than one morphological feature. Central nucleus with cores (n = 11), central nucleus, nemaline rods and cores (n = 3), and nemaline rods with cores (n = 1). 4/11 cases were diagnosed as centronuclear myopathy (CNM) in the first instance; in addition, cores were revealed on reassessment.Discussion:The prevalence of CMs of all neuromuscular disorders is approximately 6 in 100,000 live births, with regional variations. Three main defined CMs include centro nuclear myopathy (CNM), nemaline rod myopathy (NRM), and central core disease (CCD). However, they are more diverse with overlapping clinical and histopathological features, thus broadening the spectra within each category of congenital myopathy.Conclusion:Identification of cases with overlap of pathological features has diagnostic relevance. 相似文献
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目的探讨糖原累积性肌病(MGSD)患者的临床及病理特点。方法采用开放式肌肉组织活检术及肌肉酶组织化学染色方法观察29例MGSD患者的病理特点,并收集患者的一般资料、临床症状及体征、血清肌酶及EMG等临床资料进行归纳和总结。结果本组MGSD检出率为1.88%(29/1540)。29例MGSD患者中男19例,女10例。起病年龄1~67.5岁,中位数为13岁。病程3个月~41年,中位数为7年。主要的首发症状为肢体无力(65.52%)、不耐受疲劳(24.14%)和活性耐力差伴反复呼吸困难(3.45%),主要临床表现为肢体无力(96.55%)、颈肌无力(37.93%)和呼吸肌无力(13.79%)等。27例患者行肌酸激酶(CK)检查,中位数为1266.00 U/L,其中CK正常者2例(7.41%),CK升高者25例(92.59%),且以轻-中度升高为主。29例患者EMG检查均有异常,其中86.20%的患者EMG表现为肌源性损害或肌源性损害合并肌强直电位。HE染色29例患者均出现特征性的空泡样变性坏死肌纤维,空泡大小不一、形态多样,且20例空泡样变纤维中出现嗜碱性颗粒。PAS染色阳性。结论 MGSD患者发病年龄及病程波动范围大,患者均以进行性肢体无力为主要表现,部分患者有颈部肌肉及呼吸肌受累。肌肉酶组织化学染色有明显肌纤维空泡样坏死变性,有助于明确MGSD的诊断。 相似文献
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Na-Yeon Jung Yeong-Eun Park Jin-Hong Shin Chang Hun Lee Dae-Soo Jung Dae-Seong Kim 《JOURNAL OF CLINICAL NEUROLOGY》2015,11(1):97-101
Background
Central core disease (CCD) is a congenital myopathy characterized by distinctive cores in muscle fibers. Mutations in the gene encoding ryanodine receptor 1 (RYR1) have been identified in most CCD patients.Case Report
Two unrelated patients presented with slowly progressive or nonprogressive proximal muscle weakness since childhood. Their family history revealed some members with the same clinical problem. Histological analysis of muscle biopsy samples revealed numerous peripheral cores in the muscle fibers. RYR1 sequence analysis disclosed a novel mutation in exon 101 (c.14590T>C) and confirmed a previously reported mutation in exon 102 (c.14678G>A).Conclusions
We report herein two families with CCD in whom missense mutations at the C-terminal of RYR1 were identified. Although it has been accepted that such mutations are usually associated with a severe clinical phenotype and clearly demarcated central cores, our patients exhibited a mild clinical phenotype without facial muscle involvement and skeletal deformities, and atypical cores in their muscle biopsy specimens. 相似文献17.
目的探讨脂质沉积性肌病(LSM)的临床及病理学特点。方法对14例LSM患者的临床及骨骼肌病理资料进行分析。结果14例LSM患者的主要临床表现为以近端肌无力起病,渐累及全身,其中13例四肢受累,1例双下肢受累,2例颈肌受累,伴肌痛2例、肌萎缩3例;血清肌酸激酶正常5例,不同程度增高9例;14例肌电图均呈肌源性损害;14例骨骼肌病理检查(HE、MGT染色)可见大量肌纤维胞浆内散在空泡,油红"O"染色空泡红染;透射电镜分析可见沿肌纤维长轴散在串珠样膜性空泡结构。结论LSM临床表现为非特异性肌无力;肌纤维内脂质沉积是LSM主要病理表现;骨骼肌病理检查是确诊LSM的可靠方法。 相似文献
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BACKGROUND: Multi-minicore disease is a rare form of myopathy characterized by slowly progressive or nonprogressive muscle weakness and characteristic multiple cores within the muscle fibers. To the best of our knowledge, this is first documentation of the clinicopathological features of this rare entity from India. MATERIALS AND METHODS: A ll cases of multi-minicore disease diagnosed in our laboratory were retrieved. Clinical and pathological features were reviewed. RESULT: During a period of two years (January 2004 to December 2005), we received 985 muscle biopsies for various reasons. Of which, 15 were diagnosed as myopathies and four of which were of multi-minicore disease. Thus, multi-minicore disease comprises 0.40% of all muscle diseases and 26.6% of all myopathies. All were male and presented in early childhood (first decade of life) with generalized hypotonia and muscle weakness. All of them had dysmorphic facies and three had high arched palate. CPK levels were normal and EMG was myopathic except in one patient. Microscopic examination revealed minimal changes with Type I fibers' predominance but characteristic multiple cores in the myofibers. Ultrastructural examination showed both structured and unstructured cores. CONCLUSIONS: Multi-minicore disease, although a rare form of myopathies, should be suspected in children who present with generalized hypotonia and slowly progressive muscle weakness along with dysmorphic facies. 相似文献