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。     

一种罕见的运动神经元病:远端型脊肌萎缩症（附1例报道）

目的 探讨远端型脊肌萎缩症(Distal spinal muscular atrophy,dSMA)的临床特征及诊断。方法 对1例双下肢远端肌无力伴萎缩的患者进行临床、实验室、电生理、影像学检查。结果 患者幼年起病,表现为对称性双下肢无力,病情缓慢进行性加重,逐渐出现双下肢远端对称性肌肉萎缩,血清肌酶基本正常,电生理检查提示四肢神经源性损害,感觉、运动神经传导正常。结论 远端型脊肌萎缩症的临床特征与腓骨肌萎缩症、运动神经元病极为类似,实验室、电生理检查及基因检测有助于疾病的诊断。     

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。     

腓骨肌萎缩症的临床表现与脑脊液改变

总结１４例腓骨肌萎缩症（ＰＭＡ）的临床和脑脊液改变结果，发现ＣＳＦ蛋白含量增高７例（０．４１０～１．４５０ｇ／Ｌ），ＩｇＧ增高５例（０．０６０～０．３２２ｇ／Ｌ），ＩｇＡ增高１例（０．０２３ｇ／Ｌ）。蛋白含量正常组与增高组之间临床特征比较均无显著性差别，但ＨＭＳＮⅠ型增高较Ⅱ型明显     

急性脑血管病对心肌的损害

目的分析急性脑血管病对心肌的影响。方法回顾性分析210例急性脑血管病患者心肌酶和心电图(EKG)的变化特点。结果210例急性脑血管患者均有心肌酶升高及EKG的缺血性变化。脑出血组(A组)与脑梗死组(B组)患者所测心肌酶与正常值比较差异有显著性(P<0.05);A、B组之间心肌酶改变无显著性差异(P>0.05)。有意识障碍的病人EKG缺血性变化与心肌酶的增高与无意识障碍的病人比较其变化程度亦有显著性差异(P<0.05)。酶值升高与EKG变化的程度与病变部位有关,与年龄无关。结论急性脑血管病可以引起心脏的损害,病情越重,心肌酶升高幅度和EKG缺血性变化越大。     

Emery-Dreifuss肌营养不良症的临床、病理特征及emerin蛋白、STA基因的表达(附1例报告)

目的研究Emery-Dreifuss肌营养不良症（EDMD）的临床、病理特征及emerin蛋白、STA基因的表达。方法回顾性分析1例EDMD患者的临床资料及STA基因检测结果。结果本例患者儿童期发病,进行性四肢肌肉无力、萎缩,早期关节挛缩和心脏受累;血肌酶仅轻度增高;病理检查肌肉肌纤维大小不等,纤维变圆,部分被脂肪取代;脊髓前角细胞正常,腓肠神经无改变,除外神经源性肌萎缩;横纹肌与心肌emerin蛋白消失;STA基因无突变。结论EDMD是肌营养不良的特殊类型,发病早期出现关节挛缩和心脏受累;肌核膜emerin蛋白缺失;散发性EDMD的STA基因无突变。     

伴有炎性改变的腓骨肌萎缩症二例病理报告

目的 报道2例经基因诊断明确的腓骨肌萎缩症患者的病理特点.方法 对2例经基因诊断明确为连接蛋白32（connexin 32,Cx32）基因突变所致的腓骨肌萎缩症患者进行腓肠神经和腓肠肌活检,肌肉切片采用HE染色,腓肠神经半薄切片采用美蓝染色,另采用免疫组织化学（SP法）检测腓肠神经是否有炎症细胞浸润.所用抗体为抗CD68抗体和抗白细胞共同抗原（LCA）抗体.结果 2例患者腓肠肌活检均可见肌间质大量炎性细胞浸润,脂肪增生.腓肠神经半薄切片未见明显洋葱球样结构形成,可见有髓纤维密度明显减少,大量薄髓鞘有髓神经纤维和有髓神经纤维再生簇形成.免疫组织化学见2例患者腓肠神经CD68和LCA表达均呈阳性.结论 腓骨肌萎缩症患者可表现为炎性病理改变,临床上要注意与慢性炎症性脱髓鞘性多发性神经病等鉴别.     

脊髓延髓肌萎缩症临床及电生理特点分析

目的分析5例脊髓延髓肌萎缩症患者的临床特征,以便临床医生对该病的认识。方法收集基因确诊的5例脊髓延髓肌萎缩症患者的临床资料,分析其临床特点及血清性激素、各生化指标水平、脑脊液及肌电图特点。结果脊髓延髓肌萎缩症患者青年发病,病情进展缓慢。神经系统表现为以肢体近端和延髓部受累为主的瘫痪。舌肌受累较早,运动功能损害较轻。血清睾酮(969.3±234.9ng/dl)、雌二醇(57.1±5.3pg/ml)水平增高,男性乳腺发育出现在病史较长的患者。三核苷酸(CAG)重复序列数目43～51(平均47.2±3.6pg/ml)。患者的肌酸激酶(CK,481.8±264.8 IU/L)均增高,脑脊液检查均正常。肌电图为广泛神经源性损害。结论脊髓延髓肌萎缩症患者的早期症状不典型,易误诊,临床特征为青年起病,缓慢加重,以肢体近端无力为主的瘫痪。     

急性脑梗死患者血清心肌酶学改变及危险因素分析

目的观察急性脑梗死(ACI)患者血清心肌酶学的改变,并分析其危险因素。方法选取115例ACI患者,入院确诊后均给予相应的治疗措施,收集患者一般资料,内容包括性别、年龄、主要病史(高血压、糖尿病、脑血管病),对相关因素进行Logistic分析,在患者入院后72h内进行标准12导联心电图检查,并采血进行心肌酶学检测(检测指标:CK、CK-MB、AST、LDH)。同时对2组患者神经功能缺损程度及短期预后进行比较,并对其与患者心肌酶水平之间的关系进行分析,神经功能缺损程度采用NIHSS评分进行评定,短期预后采用mRS(自我生活自理能力)评定。结果 115例患者中,血清心肌酶升高20例,正常95例;血清心肌酶升高组CK、CK-MB、AST、LDH均明显高于正常组(P0.05)。单因素Logistic分析显示,高血压史、糖尿病史、TC、TC、LDL-C、纤维蛋白原是ACI患者血清心肌酶学改变的危险因素(P0.05),其中以高血压史、LDL-C升高、HDL-C降低影响更为显著。将ACI患者血清心肌酶学改变的危险因素进一步校正,结果显示高血压史(OR=2.56,P0.05)、LDL-C升高(OR=2.68,P0.05)是ACI患者心肌酶学改变的独立危险因素。心肌酶升高组发病后第1、3、7天NIHSS评分、mRS评分均明显高于正常组(P0.05)。结论 ACI患者血清心肌酶升高的危险因素包括高血压史、高血脂史、糖尿病史等,而心肌酶越高,预后越差,应对采取必要的干预措施。     

强直性肌营养不良一家系临床分析

目的 探讨强直性肌营养不良(DM) 的临床特点,以提高对该病的认识.方法 对一DM 家系确诊的5例患者的临床资料进行收集分析,包括患者基本资料、临床表现、肌电图及肌肉活检等.结果 5例DM 患者均为慢性病程,以肌强直、肌无力、肌萎缩为主要表现,伴眼部、心脏、内分泌和神经等多系统损害,血清肌酶轻度增高或正常,肌电图具有特征性肌强直放电和肌源性损害,肌肉活检具有相对特异性肌病特征.结论 DM 是一种以肌强直、肌无力、肌萎缩为主要表现的多系统损害的遗传性疾病,临床表现复杂多样,肌肉活检有助于明确诊断.     

参松养心胶囊对氯氮平所致难治性精神分裂症患者心电图和心肌酶改变的影响

目的：探讨参松养心胶囊对氯氮平所致难治性精神分裂症患者心电图和心肌酶改变的影响.方法对102例心电图和心肌酶正常的难治性精神分裂症患者进行研究,随机分为氯氮平联合参松养心胶囊治疗的观察组(52例)和氯氮平单独治疗的对照组(50例),分别于治疗前和治疗8周后评估阳性与阴性症状量表(PANSS)评分、检测心电图和心肌酶变化,包括肌酸激酶(CK)和肌酸激酶同工酶MB 亚型(CK－MB).结果(1)两组患者疗效和严重不良事件比较差异均无统计学意义(P ＞0．05);(2)两组患者共出现33例心电图异常,对照组21例(42．0％),观察组12例(23．1％),差异有统计学意义(P ＜0．05),其中窦性心动过速最常见,分别出现16例(32．0％)和8例(15．4％),差异有统计学意义(P ＜0．05),心电图异常的发生与疗效无相关性;(3)与治疗前相比,两组患者治疗后均出现 CK 和 CK－MB升高(P ＜0．05),且观察组低于对照组,差异均有统计学意义(P ＜0．05).结论参松养心胶囊能够减轻氯氮平所致的难治性精神分裂症患者心电图异常和心肌酶升高.     

急性一氧化碳中毒致横纹肌损伤的临床分析

目的探讨不同程度急性一氧化碳中毒(ACOP)致横纹肌损伤的发生情况以及心肌酶反应横纹肌损伤的临床意义。方法收集2014年10月~2015年2月吉林市中心医院收治的45例ACOP患者的临床资料,将ACOP患者分为轻度中毒、中度中毒、重度中毒组,根据有无横纹肌损伤的症状和体征(肿胀、疼痛或极度肌无力等)将患者分为显性肌损伤组与隐性肌损伤组,结合心肌酶(肌酸激酶、肌酸激酶同工酶、谷草转氨酶、乳酸脱氢酶)、心电图(ECG)、肌钙蛋白I(CTn I)测定结果进行临床分析。结果轻、中、重度中毒并发横纹肌损伤的发生率分别为11.1%、24.4%、24.4%,33.3%的ACOP患者并发显性肌损伤。ACOP会造成不同程度的心肌酶学改变,重度与轻、中度相比,差异有统计学意义(P0.05),中毒程度越重,心肌酶改变越明显,重度中毒组的显性肌损伤发生率与轻度中毒组及中度中毒组的显性肌损伤发生率比较,差异无统计学意义(Z=0.22,P0.05);显性肌损伤组与隐性肌损伤组相比,肌酸激酶(CK)差异有统计学意义(P0.05),CK-MB%(CK-MB/CK)差异无统计学意义。结论中、重度ACOP致横纹肌损伤较为常见。显性肌损伤的发生率与中毒程度无关,与CK活力升高呈正相关,心肌酶的升高更大程度上提示横纹肌的损伤,在反映心肌损伤方面特异性不高。     

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency: histological and biochemical analysis

We reported a 3-week-old girl with profound generalized weakness, requiring assisted ventilation. There was no consanguinity or family history of any neuromuscular disorders. Serum levels of GOT, GPT and CK were slightly elevated. Although the clinical manifestations mimicked those of Werdning-Hoffmann disease, a lack of the respiratory muscle involvement and the presence of high serum lactate levels suggested an underlying metabolic disorder. During the observation over the months, she gradually improved clinically and assisted ventilation was discontinued at 19 months. Muscle biopsies were performed at 4 and 19 months of age. The first biopsy showed an excessive mitochondrial aggregation and numerous ragged-red fibers. The second biopsy revealed rare ragged-red fibers. However there were definite neurogenic changes including type grouping and angulated fibers. Cytochrome c oxidase (CCO) stain was positive in less than 5% of fibers in the first biopsy but in all fibers in the second biopsy. Biochemical analysis using muscle specimens showed a decreased CCO activity; 18.5% of the control level in the first biopsy and 53.3% in the second biopsy. Immunocytochemistry showed the presence of immunologically reactive enzyme protein in both biopsies. Clinical manifestations of our patient were almost identical to those of two cases reported by DiMauro, et al (1983). The enzyme defect in this case was reversible in contrast to that in the fatal infantile form of CCO deficiency. Histochemical and biochemical bases for these differences were discussed.     

神经肌炎与多发性肌炎的对比分析

目的 :为了认识神经肌炎的临床、神经电生理等方面特点 ,探讨其与多发性肌炎的关系。方法 :选取我院近 10年间收治的较典型的 11例神经肌炎病人 ,随机选取同期收治的多发性肌炎病人 2 9例 ,对此两组病人的临床表现、心脏并发症、对激素治疗的疗效、肌电图以及肌肉活检的结果给予对比研究。结果 :在神经肌炎组中 ,有 8例感觉障碍 (6例呈末梢型感觉障碍分布 ;2例呈多发性神经根神经炎表现 ) ;神经传导速度检查中 ,10例有运动传导速度明显减慢或引不出 ,1例电位波幅明显降低 ,呈轴索样损害的表现 ;多发性肌炎组病人均无感觉障碍 ,神经传导速度检查均正常。两组在其他临床表现及激素治疗效果上 ,血清CK增高 ,肌活检、肌电图方面无明显差异(P >0 0 5 )。结论 :神经肌炎是多发性肌炎中一种少见的特殊类型 ,除具有多发性肌炎的表现之外 ,同时还具有周围神经病的表现 ,两者间是很难区分的     

慢性炎性脱髓鞘性周围神经病样表现的腓骨肌萎缩症二例

目的观察亚急性病程的慢性炎性脱髓鞘性周围神经病（CIDP）样表现的腓骨肌萎缩症（CMT）的临床、病理和电生理特点。方法报道2例亚急性的CIDP样表现的CMT患者的临床、神经电生理及周围神经活检的病理特点。结果2例证实为17p12重复突变的CMTIA患者，慢性病程中亚急性加重，临床表现类似于CIDP。肌电图示运动神经传导速度（MNCV）减慢、阻滞；神经活检见洋葱头样改变，髓鞘脱失，有炎性细胞的浸润，证明有炎性脱髓鞘的CMT1A存在，且免疫治疗有效。结论慢性病程的CMT1A可有类似于CIDP的病程和临床表现，免疫治疗可改善症状。     

糖原累积性肌病的临床和病理学特点

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。     

Polymyositis: its presentation, morbidity and mortality.

A survey of 118 patients seen in the last twenty years in Newcastle upon Tyne forms the basis of this report. All of these 118 patients fulfilled clearly defined clinical, electrophysiological and pathological criteria for the diagnosis of polymyositis: muscle pain, weakness and characteristic EMG and/or muscle biopsy 55%; and characteristic muscle biopsy 17%; muscle weakness and characteristic EMG 7%; muscle weakness and pain, and raised serum CK activity in an established collagen-vascular disease 5%. A smaller group of 25 patients were selected in whom the clinical characteristics, EMG, muscle biopsy and serum enzyme levels were all completely diagnostic of polymyositis. The patients were followed for two months to twenty-six years, with a mean follow-up duration of six years. Analysis was made of the features at presentation and during the course of the illness, and of prognostic factors bearing upon the disability, response to treatment and mortality. Cases were classified according to the system of Rose and Walton (1966). Groups I, II, and III each constituted approximately one-third of the total cases, while only 8% of all cases were associated with carcinoma. The female to male ratio was 1.4:1. Though cases were seen in all age groups, the largest number was in the sixth decade. The sedimentation rate was raised in 55% of cases. Electromyography was characteristic of polymyositis in 45% of cases, and in only 11% was it normal. The serum creatine kinase activity was raised in 64% of cases. There was no correlation between the extent of these abnormalities and the degree of weakness or disability. 65% of muscle biopsies had changes with inflammatory infiltration virtually diagnostic of polymyositis. 17% of cases had a normal muscle biopsy. Most of the patients (89%) were treated with high-dose prednisone therapy, commencing with 30-100 mg/day, gradually reducing to a maintenance dose of 5-15 mg/day over two or three months. All clinical groups showed considerable improvement in average disability with time on "high dose" corticosteroid therapy, the maximum improvement occurring within the first three years. The degree of improvement in disability was considerably less in those inadequately treated, though the mortality rate was similar in the two groups. 66% of all survivors had essentially no functional disability at follow-up three or more years later, and in the majority of these cases the disease appeared to have burned itself out. 33% of cases had significant disability after three years, and in half of these the disease appeared to be still active.     

Polyglucosan body disease.

Adult polyglucosan disease has been described in 15 cases. All had signs of peripheral neuropathy, upper motor neuron signs, and 12 of the 15 had sphincter problems. Dementia was prominent in 8 of 15 cases. We reported 2 cases that contained these clinical features. Electrophysiological studies showed axonal neuropathy. Somatosensory evoked potentials on the second patient were abnormal. Sural nerve biopsy showed clusters of polyglucosan bodies. Although the presence of polyglucosan bodies in biopsy is nonspecific, the number as well as the clinical features are necessary to make the diagnosis. Branching enzyme activity in muscle extracts of the muscles were normal. Hence, a specific enzyme abnormality is not yet known.     

NERVE CONDUCTION STUDIES IN CHARCOT—MARIE—TOOTH DISEASE

Earlier studies of nerve conduction in Charcot-Marie-Tooth Disease have produced contradictory results, therefore a further study has been undertaken attempting to establish the pattern of nerve conduction abnormalities that may be anticipated. Standard methods of measuring nerve conduction have been employed in twenty-three patients with undoubted Charcot-Marie-Tooth disease. Motor nerve conduction was always abnormal in the legs, and usually abnormal in the arms; sensory nerve conduction was always abnormal in the arms. Abnormal motor conduction was usually associated with clinical wasting but sensory nerve conduction abnormalities occurred in the absence of clinical sensory loss in most patients. The severity of the nerve conduction impairment appeared to be directly related to the duration of the disease, and possibly to the clinical severity of the disease.     

Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease

X-linked Charcot-Marie-Tooth disease (CMTX) is a clinically heterogeneous hereditary motor and sensory neuropathy with X-linked transmission. Common clinical manifestations of CMTX, as in other forms of Charcot-Marie-Tooth disease (CMT), are distal muscle wasting and weakness, hyporeflexia, distal sensory disturbance, and foot deformities. Motor nerve conduction velocity is reduced. In male patients it is often less than 38 m/s in the median nerve (a value often used to distinguish between "demyelinating" and "axonal" forms of CMT), but in female patients conduction velocity may be faster than this or normal. Mutations in the connexin32 (gap junction protein beta 1 (GJB1)) gene are responsible for the majority of CMTX cases. This report describes six British CMTX families with six novel mutations (four missense, one nonsense, and one frame shift) of the GJB1 gene. Affected members in these six families had typical signs of CMT but in some affected members of three families there was additional central nervous system involvement or deafness in the absence of any other explanation other than CMT.