甲状腺功能减退性多发性肌炎样综合征57例回顾分析

目的了解甲状腺功能减退性多发性肌炎样综合征患者的临床特点。方法回顾分析1997--2007年国内文献报道的53例及我院收治的4例患者的临床资料。结果甲状腺功能减退性多发性肌炎样综合征表现为近端肌无力伴不同程度肌痛，不伴肌肥大或肌强直，肌酶显著升高，肌电图和肌活检多无特异性改变，甲状腺素替代治疗疗效好。结论临床上对有肌病表现、肌酶显著升高的患者须注意有无甲状腺功能减退症。病程较长、病情严重或伴黏液性水肿的甲状腺功能减退症患者出现特异性肌肉表现、肌酶显著升高时应考虑多发性肌炎样综合征。     

颅咽管瘤术后下丘脑综合征伴原发性甲状腺功能减退症

颅咽管瘤术后下丘脑综合征合并原发性甲状腺功能减退症临床罕见,国外研究仅少数个案报道,国内文献中尚未见报告.我们收治了一例颅咽管瘤术后患者,表现为腺垂体功能减退及贪吃肥胖、发作性昏睡等下丘脑综合征表现.实验室检查发现甲状腺功能减退合并TSH升高.现作病例报告和文献综述,以丰富对颅咽管瘤的临床认识.     

甲状腺功能减退性肌病误诊3例并文献复习

目的提高风湿免疫科临床医师对甲状腺功能减退性肌病的认识及诊断水平。方法分析3例误诊为结缔组织病的甲状腺功能减退性肌病病例,参考国内外文献探讨误诊的原因,并对甲状腺功能减退性肌病进行复习。结果山西医科大学第二医院风湿免疫科近半年收治了3例以"肌无力、肌酶谱升高"为主要表现的患者,初步诊断均为结缔组织病,其中2例给予糖皮质激素治疗,行甲状腺功能检查后均诊断为甲状腺功能减退症,结合患者病史、症状、体征及肌酶谱、肌电图等结果确诊为甲状腺功能减退性肌病,给予左旋甲状腺素钠片治疗,2例患者症状、体征及心肌酶谱、甲状腺功能均恢复正常。第3例患者在治疗中,临床表现及心肌酶谱也明显恢复。结论对临床出现肌无力、肌酶谱升高,但查体肌力、肌张力正常的患者,应考虑甲状腺功能减退性肌病的可能,对此类患者应该常规行甲状腺功能检查,以减少误诊误治。     

84例成人甲状腺机能减退性肌病临床荟萃分析

目的了解成人甲状腺机能减退性肌病的临床特点,提高对该病的认识。方法回顾分析1994年至2007年国内相关文献报道及中山大学附属第二医院收治的共84例甲状腺机能减退性肌病患者的临床资料。结果本组84例患者中多发性肌炎样综合征占64．3％,Hoffmann综合征占26．2％,不伴肌强直的肥大性肌病、不伴肌肥大的肌强直及肌萎缩3者共占9．5％。多发性肌炎样综合征患者都有四肢近端肌无力,57．7％有肌痛,33．3％肌电图显示肌源性损害,30％的患者肌活检见肌纤维肿胀断裂,40％有炎性细胞浸润。Hoffmann综合征患者都有肌肥大,68．4％有肌僵硬,36．8％的患者活动后有局部肌球形成,肌电图显66．7％示肌源性损害,16．7％出现肌强直（样）电位。所有患者甲状腺素替代治疗后症状消失,肌酶及甲状腺功能指标恢复正常。结论甲状腺机能减退性肌病分为不同临床类型,表现多样,预后好,甲状腺素替代治疗可治愈。临床对有肌病表现的患者应注意甲状腺机能减退性肌病。     

原发性干燥综合征合并甲状腺功能异常的临床及血清学分析

原发性干燥综合征 (ｐｒｉｍａｒｙＳｊ ｇｒｅｎ′ｓｓｙｎｄｒｏｍｅ,ｐＳＳ)是以外分泌腺受累为主要表现的自身免疫性疾病 ,可表现为多器官功能受损 ,甲状腺功能受累多无明显的临床表现 ,部分表现为甲状腺功能减退及甲状腺功能亢进。本文报告了 36例ｐＳＳ患者的甲状腺功能情况 ,具体如下。1　资料和方法1 1　病例选择 :36例均为在北京大学人民医院风湿免疫科住院的ｐＳＳ病人 ,符合Ｆｏｘ诊断标准[1] 。其中男性 1例 ,女性35例。年龄 2 4～ 74岁 ,平均年龄 5 1岁。病程 1个月～ 17年 ,平均 (4± 5 )年。甲状腺功能减退及亢进的诊断主要…     

原发性干燥综合征合并甲状腺功能异常的临床分析

目的：了解原发性干燥综合征合并甲状腺受累情况。方法：分析４１例原发性干燥综合征患者的甲状腺功能和抗甲状腺抗体。结果：１５例（３６６％）患者有甲状腺功能异常，其中１３例为临床型甲状腺功能低下，２例为亚临床型甲状腺功能低下。９例检测了抗甲状腺抗体，５例升高。３０％的甲状腺功能异常患者有甲状腺功能低下的症状。甲状腺功能低下和功能正常的原发性干燥综合征患者临床和实验室检查比较表明，甲状腺功能低下患者眼干、发热多见，血沉增快、γ球蛋白增高和白蛋白降低更为明显，而甲状腺功能正常患者腮腺肿大多见。结论：原发性干燥综合征合并甲状腺功能异常并不少见，应予以重视     

五例垂体柄中断综合征的临床诊断

目的 提高对垂体柄中断综合征(PSIS)的认识和诊断水平.方法 回顾分析5例PSIS患者的临床表现、垂体前叶及各靶腺轴和垂体后叶功能、影像学表现.结果 PSIS患者5例,其中男性4例,年龄17～21岁,3例有难产史,1例有头颅外伤史,均表现为不同程度的生长发育障碍,1例有畏寒、反应迟钝等甲状腺功能减退症状,均无多饮和低比重尿.所有患者存在生长激素缺乏、低促性腺激素性性腺功能减退和肾上腺皮质储备功能不足,4例患者同时存在中枢性甲状腺功能减退,3例临床并无相应表现.磁共振检查显示所有患者垂体柄和垂体后叶正常高信号消失,而在视交叉下(4例)、蝶窦内(1例)见到点状异常高信号,伴部分空蝶鞍.结论 PSIS以生长发育迟缓为主要临床表现,部分性或完全性垂体前叶功能减退而垂体后叶功能正常,磁共振检查呈现的特征性改变为重要诊断依据.     

伴肌酸激酶升高、垂体增大的原发性甲状腺功能减退症的临诊应对

原发性甲状腺功能减退症(甲减)患者血中甲状腺激素水平降低,由于负反馈作用减弱使垂体增大,单纯影像学检查易与垂体瘤混淆;同时甲减合并肌酸激酶显著升高的病例也不少见,可能会被误诊为肌炎.本文介绍1例原发性甲减合并明显垂体增生、肌酸激酶升高患者的诊治过程,以引起对甲减非特异临床表现的重视,进行正确的治疗.     

促甲状腺激素垂体瘤病例报道并文献复习

对2例促甲状腺激素(TSH)垂体瘤患者的临床资料进行回顾性分析,并进行文献复习.2例患者都存在甲状腺毒症,均有甲状腺激素水平增高同时不伴TSH抑制,1例大腺瘤患者存在视野缺损.2例患者在确诊之前均误诊为原发性甲状腺功能亢进而接受抗甲状腺药物治疗4～7年,1例患者还曾行甲状腺大部切除术.确诊后大腺瘤患者行垂体瘤手术联合垂体放射治疗,另1例为微腺瘤患者,行垂体放射治疗.术后随访,2例患者的甲状腺功能亢进均较前改善.甲状腺毒症患者血清TSH水平不被抑制时应警惕TSH垂体瘤的存在,鞍区影像学检查可以进一步明确诊断,早期诊断和手术联合放射治疗可以取得较好的治疗效果.     

程序性细胞死亡蛋白1抑制剂相关性垂体炎临床特征分析

目的探讨程序性死亡蛋白1(PD-1)抑制剂相关性垂体炎的临床特征。方法回顾性病例系列研究。收集2020年1月至2023年5月于河北大学附属医院及河北医科大学第三医院治疗的PD-1抑制剂相关性垂体炎患者的临床及随访资料, 分析其临床表现及预后。结果共纳入15例PD-1抑制剂相关性垂体炎患者, 其中男性13例, 女性2例, 发病年龄(62.1±7.5)岁, 发病时PD-1治疗周期6.5(4.7, 11.6)个。临床症状表现为消化道症状14例、疲乏12例、低血钠12例、低血钾1例、低血糖1例、低血压5例、发热1例。15例患者均表现为继发性肾上腺皮质功能减退, 4例继发性甲状腺功能减退, 2例继发性性腺功能减退, 未见垂体后叶功能减退。垂体MRI表现为空泡蝶鞍1例, 垂体小囊性病变1例, 垂体柄略向左偏移1例, 蝶鞍部高代谢、垂体异常信号1例, 11例未见异常。随访时间(47.66±11.93)周, 末次随访时, 1例血清促肾上腺皮质激素及皮质醇恢复正常。结论 PD-1抑制剂相关性垂体炎发病时间较晚, 临床表现以消化道症状及疲乏多见, 以肾上腺皮质功能减退为主要表现, 甲状腺及性腺功能减退次之...     

Polymyositis-like syndrome caused by hypothyroidism, presenting as camptocormia

Polymyositis-like syndrome characterized by proximal muscle weakness and elevation of muscle enzymes may be a presenting manifestation of hypothyroidism. Camptocormia, which can be caused by myopathy of the paraspinal muscles, is an involuntary truncal flexion of the thoracolumbar spine while standing or walking. Among various neuromuscular disorders, hypothyroidism has not been reported in the literature as a cause of camptocormia. This is the first report of polymyositis-like syndrome with camptocormia caused by hypothyroidism.     

Polymyositis-like syndrome in hypothyroidism: review of cases reported over the past twenty-five years.

Polymyositis-like syndrome, with proximal muscle weakness and elevation of muscle enzymes, may be a clinical manifestation of hypothyroidism. To define the clinical, biochemical, electromyographic, and pathologic characteristics of patients with this syndrome, we identified and reviewed by MEDLINE all cases reported in the English literature from January 1, 1975 through December 31, 2000. Thirty-two cases were considered. Fifty-nine percent of the patients were male with a mean age of 54.7 +/- 22.6 years, (+/- 1 standard deviation [SD]). Weakness was described in 100% of patients. Other common clinical manifestations were: delayed tendon reflexes with slow relaxation phase (41%), muscle tenderness (25%), and muscle induration (9%). The mean creatine kinase (CK) was 2164 +/- 1954 U/L (+/- 1 SD) and the mean thyroid-stimulating hormone (TSH) was 114.8 +/- 85.6 mIU/L (+/- 1 SD). Fifty percent of patients had electromyography; half of the studies were normal while the other half showed nonspecific myopathic changes. Biopsies were performed in 80% of the patients. The most common findings were type II fiber atrophy, type I fiber hypertrophy, central nuclei disposition, necrosis, increased percentage of type I fibers, and decreased percentage of type II fibers, inflammatory infiltrate and the presence of core-like structures. The characteristics of polymyositis-like syndrome in hypothyroidism did not differ from those of nonspecific hypothyroid myopathy. Clinical judgment alone may not be sufficient to suspect and detect these patients. Serum TSH levels should be routinely determined in all patients with muscle weakness or elevation of creatine kinase.     

Clinical and muscular evaluation in patients with subclinical hypothyroidism

Some symptoms and signs of hypothyroidism, as well as some laboratory abnormalities, may be present in subclinical hypothyroidism (SH). This study evaluates the prevalence of signs and symptoms of hypothyroidism and skeletal muscle dysfunction in 57 patients with SH compared to 37 euthyroid controls. The participants received a clinical score based on signs and symptoms of hypothyroidism. The muscle strength was estimated by manual testing and chair dynamometer and inspiratory force by manuvacuometer. Thyroid hormones and muscle enzymes were measured. The SH group presented with higher score (p< 0.01), complained about myalgia and weakness more frequently (p< 0.05), and showed strength disability in scapular and pelvic girdles (p< 0.05). The median free T4 serum levels were lower in SH (p< 0.001). These findings suggest that signs and symptoms of thyroid dysfunction may be related to lower levels of FT4 in SH and should be taken into account in the decision of beginning LT4 therapy.     

Fenofibrate--induced myopathy in a patient with undiagnosed hypothyroidism--case report and a review of the literature

Hypothyroidism is one of the common causes of the secondary hypercholesterolemia. The prevalence of hypothyroidism in the general population is estimated to be as high as about 1.5%. Frequency of the hypothyroidism in patients with hyperlipidemia is high, and can be observed in 4.2-10% in different populations. Most commonly, there is no need to treat the hypothyroid patients with the hypolipidemic drugs. Substitution treatment with the thyroid hormones usually results in either normalization or significant decreasing of the lipid levels. Hypothyroidism with symptoms of involvement of skeletal muscles is referred as to hypothyroid myopathy in English literature, and can be present in 30-80% patients with deficiency of the thyroid hormones. Hypothyroidism is a risk factor of developing of toxic injury of muscles, what is thought to be related to hypolipidemic drug intake. We report a case of a patient with undiagnosed hypothyroidism with muscle involvement manifestation, who was treated with fenofibrate due to accidentally diagnosed hypercholesterolemia. Hypolipidemic management resulted in rapid exacerbation of previously moderate myopathy. High concentrations of muscle enzymes and moderate increasing of creatinine concentration were detected. Improvement was observed after discontinuation of fenofibrate administration, but muscle symptoms and elevation of muscle enzymes and creatinine persisted. After administration of levothyroxin, muscle weakness and laboratory abnormalities were observed no longer. After several months of follow-up we believe that treatment with fenofibrate in our patient was complicated with muscle tissue damage and exacerbated symptoms of myopathy originally related to decompensated hypothyroidism.     

Selective expression of MHC class I in the affected muscle of a patient with idiopathic inflammatory myopathy

The dominant clinical feature of polymyositis/dermatomyositis is weakness in proximal, rather than distal, musculature. Although rare, cases of focal/localized myositis in which polymyositis-like muscle inflammation is present in only one muscle or extremity have also been reported. The underlying mechanisms dictating involvement of specific muscle groups in polymyositis/dermatomyositis and focal/localized myositis have not been identified. Here, we describe a rare case of dropped-head syndrome due to localized idiopathic inflammatory myopathy (IIM) in the splenius capitis (neck extensor) muscle where major histocompatibility complex (MHC) class I expression was up-regulated in involved muscle fibers. Interestingly, the adjacent trapezius muscle was not affected, corresponding to muscle biopsy findings that did not show any sign of inflammation or MHC class I expression. Our case report therefore suggests that selection of affected muscle in IIM might be influenced by the MHC class I expression of the muscle.     

Animal models of myopathy.

Animal models have proven very useful in furthering insight into a number of muscle diseases. Studies of ethanol-fed rats are being used to understand the pathogenetic mechanisms underlying acute and chronic myopathy induced by ethanol. Several animal species, including mice, dogs, and cats, develop X-linked muscular dystrophies, which have genetic defects identical to those of Duchenne muscular dystrophy. As in the human disease, these animals lack dystrophin. They are being used to investigate the mechanisms by which lack of dystrophin results in weakness and to examine myoblast transfer as a treatment modality. A model of eosinophilia-myalgia syndrome has recently been induced in Lewis rats by the feeding of L-tryptophan samples that were implicated in the clinical syndrome in humans, making possible studies of the pathogenesis of this interesting new entity. A dermatomyositis-like syndrome occurs spontaneously in dogs, and polymyositis-like illnesses can be induced in mice by immunization with muscle or following infection with selected viruses, especially enteroviruses. Study of the latter is helping us understand mechanisms in the etiology and pathogenesis of inflammatory myositis and virus-induced autoimmunity.     

Rapid onset of muscle weakness (rhabdomyolysis) associated with the combined use of simvastatin and colchicine.

We report a case of a patient with mild chronic renal insufficiency who had been taking simvastatin for over a year and developed acute weakness within 3 weeks after the start of treatment with colchicine for acute gouty bursitis. Profound muscle weakness of lower extremities with inability to stand up and/or walk was present. Elevated muscle enzymes and findings on electromyography were consistent with myopathy. Rapid improvement in muscle strength accompanied by prompt resolution of abnormal elevation of muscle enzymes followed cessation of both medications. Both colchicine and statin therapy may be associated with myopathy, which usually occurs after several months of therapy. The concomitant use, however, of colchicine and statin has been associated with the rapid onset of muscle weakness. Four patients with similar clinical and laboratory characteristics to our patient's after the combined use of colchicine and statins have been described in the literature. Patients receiving combination therapy with colchicine and simvastatin, particularly in the presence of renal insufficiency, should be monitored for the development of myopathy, including rhabdomyolysis.     

Long-term efficacy of intravenously administered immunoglobulin in a case of polymyositis with limited application of steroid therapy

A 72-year-old man who had been diagnosed with polymyositis (PM) was admitted to our hospital for pneumonia with exacerbation of muscle weakness, elevation of muscle enzymes, and positive magnetic resonance imaging findings. The patient had been refractory to cyclosporine A or azathioprine and hoped to avoid administration of high-dose steroids; IV immunoglobulin (IVIG) was therefore administered after improvement of the pneumonia. Two weeks after the IVIG therapy, muscle test scores, activities of daily living, and muscle enzymes were drastically improved. Twenty months after IVIG, no relapse of PM was observed.     

Hypothyroidism presenting as muscle stiffness and pseudohypertrophy: Hoffmann's syndrome

There is a spectrum of muscular abnormalities that occurs in patients with hypothyroidism. Alterations in deep tendon reflexes are commonly observed although more extensive muscle disease is less frequently seen. Two patients who demonstrated increased muscle mass, muscle stiffness with variable degrees of muscle weakness and low levels of serum thyroxine (Hoffmann's syndrome) are described. At the time of presentation, the serum creatinine phosphokinase level was more than 10 times greater than normal, and electromyography revealed repetitive positive waves. After therapy with thyroid hormone, there was complete resolution of the muscle abnormalities, and laboratory studies were performed. In this report, we review the clinical syndrome of muscle dysfunction that can be seen with the more severe forms of hypothyroid myopathy.     

Reversible respiratory muscle weakness in hypothyroidism

Physiological studies performed 1 week after initiation of thyroid replacement showed persistence of significant respiratory muscle weakness in a patient presenting with hypothyroidism and hypercapnia. Repeat studies 12 months later demonstrated return of respiratory muscle strength to normal. Earlier reports on respiratory failure in hypothyroidism had postulated a critical role for respiratory muscle weakness in the genesis of hypercapnia. Since hypercapnia was rapidly reversed despite the persistence of severe respiratory muscle weakness, this explanation may not be always correct. It appears than in our patient thyroid replacement had its primary effect on the respiratory control system.