Kocher-Debr��-S��m��laigne syndrome and congenital nystagmus

A 11-year-old boy with hypothyroidism developed generalized muscle hypertrophy and proximal muscular weakness. Electromyographic findings were suggestive of myopathy. He had had congenital nystagmus (CN) since early infancy. Although the association of childhood hypothyroidism and CN has been documented before, the triad of hypothyroidism, hypertrophic myopathy and CN exhibited by the patient is believed to be unique.     

The musculo-skeletal features of hypothyroidism

Patients with hypothyroidism may present in rheumatism departments with muscle pain and weakness, acroparaesthesiae or less commonly definite myopathy. Osteolytic lesions are rare and require further study.     

Hypothyroidism presenting as Hoffman's syndrome

Muscle weakness, stiffness and delayed tendon jerk relaxation are usual features of hypothyroidism while muscle hypertrophy, myoedema and wasting are occasionally seen. A 60-year-old male, who presented with proximal muscle weakness and muscle hypertrophy has been reported here. Thyroid function tests, electromyogram and muscle biopsy established the diagnosis of thyroid myopathy with Hoffman's syndrome.     

Statin-associated myopathy.

Myopathy occurs in 0.1%-0.2% of patients receiving statins in clinical trials. This adverse effect is shared by all statins, but is more common with cerivastatin, especially in combination with gemfibrozil. The risk of myopathy is increased by: the use of high doses of statins, concurrent use of fibrates, concurrent use of hepatic cytochrome P450 inhibitors, acute viral infections, major trauma, surgery, hypothyroidism and other conditions. Statin-associated myopathy should be suspected when a statin-treated patient complains of unexplained muscle pain, tenderness or weakness. Statin therapy should be stopped in cases of suspected myopathy, and serum creatine kinase levels should be checked and monitored. No specific therapies other than statin withdrawal and supportive measures for rhabdomyolysis are currently available.     

慢性酒精中毒性肌病的临床及病理特点研究

目的探讨慢性酒精中毒性肌病患者的临床表现、骨骼肌活检病理特点。方法总结12例临床确诊的酒精中毒性肌病患者的临床资料,对确诊病例行骨骼肌活检,行组织化学染色,光镜下观察、摄片,进行病理分析。结果慢性酒精中毒肌病患者以肌无力、肌萎缩为主要表现,辅助检查无明显特异性;肌肉病理可见坏死、萎缩肌纤维,以Ⅱ型肌纤维萎缩为主,可见不整红边纤维（RRF）。结论慢性酒精中毒性肌病的病理变化多样,综合病史、病理检查,完善相关辅助检查是诊断该病的关键。     

以肌损害为主要表现的原发性甲状腺功能减退症五例

目的提高对重症原发性甲状腺功能减退症伴随肌病患者临床特征、病变特点及其治疗的认识。方法回顾性分析1996年3月至2003年11月收治的5例重症原发性甲状腺功能减退伴肌损害患者的临床资料及治疗转归,并结合相关文献对该病的临床特点进行分析。结果5例患者突出的临床表现为对称性近端肌无力、气短、胸痛、呼吸及吞咽困难。血肌酸激酶均显著增高(2 885~10 450 U/L)。结论应将伴有肌损害的原发性甲状腺功能减退症患者与多发性肌炎鉴别,及时给予甲状腺激素替代治疗对甲状腺功能减退相关性肌病有较好疗效。     

甲状腺功能减退性肌病误诊为多发性肌炎10例分析

目的探讨甲状腺功能减退性肌病与多发性肌炎容易误诊的原因.方法回顾分析10例甲状腺功能减退性肌病患者的临床表现及实验室检查资料,并复习有关文献.结果甲状腺功能减退性肌病与多发性肌炎在肌肉方面的表现相似,但甲状腺功能检查可以鉴别,左甲状腺素替代治疗有效.结论对于肌肉无力和肌酶升高者需常规检测甲状腺功能.     

M蛋白相关性杆状体肌病3例及文献回顾

目的 对3例怀疑M蛋白相关性杆状体肌病患者进行肌肉病理检查、M蛋白筛查明确诊断,提高对这一罕见疾病的认识并探讨对此疾病的诊疗方案。 方法 报道3例M蛋白相关性杆状体肌病,结合文献复习对病例特点进行总结。 结果 3例患者均表现为进行性加重的肌肉无力症状,完善肌肉活检诊断为杆状体肌病,合并M蛋白,给予行自体造血干细胞移植治疗有效。 结论 散发的晚发型成人杆状体肌病是一种罕见的、亚急性进展的肌病,常合并M蛋白,针对清除M蛋白的治疗是有效的。     

多发性肌炎与甲状腺功能减退性肌病的鉴别诊断

目的为鉴别诊断多发性肌炎与甲状腺功能减退性肌病,对二者的异同点进行探讨。方法回顾分析12例多发性肌炎和10例甲状腺功能减退性肌病患者的临床表现、实验室检查资料。结果多发性肌炎与甲状腺功能减退性肌病在肌肉方面的临床表现相似,但急性炎症指标、自身抗体、肌肉病理检查结果多有不同,甲状腺功能检查结果明显不同。结论甲状腺功能检查有助于两病的鉴别,对于肌肉无力和肌酶升高的患者需常规检测甲状腺功能。     

甲状腺机能减退性肌病激素替代治疗前后血清肌酶谱的变化

目的　探讨甲减肌病患者甲状腺激素替代治疗前后血清肌酶谱的变化。方法　分别检测 2 5例甲减肌病患者治疗前后血清肌酸激酶及其同工酶、乳酸脱氢酶、门冬氨酸氨基转移酶和α 羟丁酸脱氢酶水平 ,比较治疗前后肌酶水平的变化。结果　甲减肌病患者经甲状腺激素替代治疗甲状腺功能正常后 ,肌酶水平显著下降 (P <0 .0 0 1) ,并达正常范围。结论　甲减肌病患者肌酶明显升高 ,并随甲状腺激素替代治疗后代谢恢复正常而恢复正常 ,甲减肌病预后良好     

Nemaline myopathy: a report of two siblings as evidence of autosomal recessive inheritance of the infantile type

We report two opposite-sex siblings with the severe infantile form of nemaline myopathy; diagnoses were made on muscle biopsy. Neither parent showed clinical or electromyographic evidence of myopathy, and both had negative muscle biopsies. Autosomal recessive inheritance seems likely.     

Adult-onset mitochondrial myopathy.

Mitochondrial diseases are polymorphic entities which may affect many organs and systems. Skeletal muscle involvement is frequent in the context of systemic mitochondrial disease, but adult-onset pure mitochondrial myopathy appears to be rare. We report 3 patients with progressive skeletal mitochondrial myopathy starting in adult age. In all cases, the proximal myopathy was the only clinical feature. Mitochondrial pathology was confirmed by evidence of ragged-red fibres in muscle histochemistry, an abnormal mitochondrial morphology in electron microscopy and by exclusion of other underlying diseases. No deletions of mitochondrial DNA were found. We emphasize the need to look for a mitochondrial disorder in some non-specific myopathies starting in adult life.     

C5b-9在坏死性肌病肌肉组织血管中的表达及意义

目的研究C5b-9在坏死性肌病肌肉小血管中的表达以探讨其发病机制。方法采用酶组织化学和免疫组织化学方法检测坏死性肌病患者肌肉组织肌纤维和血管的MHC-1和C5b-9表达。结果本组患者肌肉组织出现灶性或散在分布的肌纤维坏死,间有吞噬现象,肌内、外衣和血管周围未见炎性细胞浸润,局部小血管数量减少,个别小血管管壁增厚。MHC-I免疫组化染色显示坏死的肌纤维、肌纤维间隙及血管均呈阴性。C5b-9免疫组化染色显示肌肉组织的小动脉与小静脉的血管壁,内皮细胞及平滑肌均出现明显的强阳性表达,同时相关的坏变和萎缩肌纤维也出现明显的表达。结论 C5b-9可能参与血管启动的坏死性肌病的发病机制。     

脂质沉积性肌病19例临床病理分析

目的分析临床少见的脂质沉积性肌病(LSM)临床特点和肌肉活检特征。方法收集我院LSM患者19例,分析临床表现、肌电图、肌酶、肌力等以及肌活检时组织结构和酶组化染色特点。结果LSM临床表现为四肢近端肌萎无力,运动不持久。肌力大多在III级左右,其中1例肌力为V级;实验室检查肌酶均有增高,患者血脂和载脂蛋白异常;肌电图检查为肌源性损害。病理特点为皮肤厚度增加,肌肉结构清楚,肉色浅,质软,病理诊断主要靠镜下以I型肌纤维为主的肌纤维空泡,脂肪染色(SBB)阳性。结论脂质沉积性肌病的确诊手段是肌肉活检的脂肪染色,具体分型还需进行生化检测各种酶缺陷。     

BAG3-Related Myofibrillar Myopathy Presenting as Hypercapnia:A Case Report and Literature Review

Objective BAG3-related myopathy is a rare condition so far reported in twenty patients worldwide.The purpose of this study was to draw attention to this rare disease and to the fact that BAG3-related myopathy should be considered as a rare differential diagnosis of hypercapnia.Methods We report a sporadic case of a 14-year-old Chinese girl with a de novo p.Pro209Leu mutation in BAG3 and reviewed the literatures for reported cases related to this mutation.Results We described a 14-year-old Chinese girl who presented with gradually appearing symptoms of hypercapnia that required assisted ventilation.The muscle biopsy and the blood whole-exome sequencing results confirmed the diagnosis of myofibrillar myopathy with a de novo p.Pro209Leu mutation in BAG3.Totally twenty-one patients from twenty families with a confirmed diagnosis of BAG3-related myopathy were reported to date,including this patient and literature review.The male to female ratio was 11 :10 and most showed initial symptoms in the first decade of life.Most patients presented toe/clumsy walking or running as the onset symptom,followed by muscle weakness or atrophy.Creatine kinase levels were elevated in fourteen patients and were normal in three.Eighteen patients developed respiratory insufficiency during the disease course and thirteen (one could not tolerate non-invasive assisted ventilation) required non-invasive assisted ventilation for treatment.Except for one not reported,heart involvement was found in seventeen patients during the disease course and seven underwent heart transplantation.Z-disk streaming and aggregation could be observed in most of the patients' muscle histology.In the long-term follow-up,five patients died of cardiac or respiratory failure.Conclusion BAG3-associated myopathy is a rare type of myofibrillar myopathy.It should be considered as a rare differential diagnosis of hypercapnia.     

自动活检枪微创肌活检在小儿肌肉疾病中的应用

目的探讨用活检枪进行肌活检的方法和临床意义。方法应用Bard Magnum全自动复用型活检枪和配套的16G组织切割针进行快速微创肌活检。取腓肠肌12例，三角肌1例，同时取腓肠肌和三角肌4例。肌肉组织应用10％福尔马林固定HE染色或冰冻切片酶组织化学染色等。结果活检病理诊断假性肥大性肌营养不良15例．先天性肌营养不良1例，先天性肌病（肌质管病）1例。17例均一次穿刺成功，穿刺成功率100％，无1例有并发症。结论运用粗针切割式自动活检枪进行肌活检操作简单、安全、微创、经济。获得的肌肉标本能满足病理诊断的要求，值得在临床推广应用。     

以呼吸衰竭为首发表现的成人线粒体肌病1例报告并文献复习

目的探讨线粒体肌病并发呼吸衰竭的发病机制和临床特点。方法报告1例以呼吸衰竭为首发表现的成年线粒体肌病患者的临床资料,并复习相关文献。结果患者临床表现为胸闷;血清肌酶谱检查：肌酸激酶（CK）208U／L,乳酸脱氢酶（LDH）546U／L,天冬氨酸氨基转移酶（AST）50U/L;血气分析提示Ⅱ型呼吸衰竭,肺功能存在限制性通气功能障碍,肌电图提示肌源性损害。肌肉病理发现组织中散在典型的不整红边纤维．电镜下见线粒体内存在晶格状包涵体。结论线粒体肌病可以单纯累及呼吸肌．因通气功能障碍而导致呼吸衰竭。成年人可以慢性呼吸衰竭为线粒体肌病的首发表现。     

Thyrotoxic muscle disease

Evidence suggests that most hyperthyroid patients have a proximal myopathy. The more severe this is the more frequently are distal muscles, and ultimately, bulbar muscles involved. Probably acute thyrotoxic myopathy or encephalopathy supervenes on a previous chronic background or occurs concurrently with skeletal muscle involvement. Using careful electromyographic techniques evidence of myopathy may be found in most thyrotoxics; it disappears with adequate treatment of the primary disease.     

线粒体肌病和脑肌病外周血细胞线粒体DNA的定量分析

目的：了解线粒体肌病／脑肌病患者外周血细胞线粒体ＤＮＡ的拷贝数量有无异常。方法：用分子杂交技术对１０例线粒体肌病／脑肌病患者和１６例正常对照者的外周血细胞线粒体ＤＮＡ进行定量分析。结果：在线粒体肌病／脑肌病患者及正常对照者中,均未发现外周血细胞线粒体ＤＮＡ的片段缺失;但前者线粒体ＤＮＡ的拷贝数量较后者明显增多。结论：在线粒体肌病／脑肌病患者的外周血细胞中,线粒体ＤＮＡ的数量较正常人明显增加,与其肌肉中线粒体的异常增生相一致。这一实验方法对线粒体肌病／脑肌病的初筛有一定价值。     

Anorexia nervosa, liquorice and hypokalaemic myopathy.

A patient with a past history of anorexia nervosa developed a hypokalaemic myopathy following a ''flu-like illness. Although she was apparently in remission from anorexia nervosa, the diet was found to be markedly abnormal with an excessive ingestion of liquorice and a low potassium salt intake. The clinical features and investigations, including muscle biopsy, are described. The patient is compared, with 2 reported cases of liquorice-induced myopathy, and the relationship between anorexia nervosa, liquorice and hypokalaemic myopathy is discussed.