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Coexistence Of Myasthenia Gravis And Myotonic Dystrophy In A Thyrotoxicosis Patient

机译:甲状腺毒症患者的重症肌无力和强直性肌营养不良症并存

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A 28 year old previously healthy female presented with a four month history of difficulty of swallowing and drinking liquids and proximal weakness with fluctuation. At her physical examination, she had bilateral exophtalmus which were compatible with hyperthyroidism. Her facial appearance, distribution of weakness without atrophy and presence of reflex myotonia, quadriparesis, and decreased gag reflex resulted in clinical diagnosis of myasthenia gravis and myotonic dystrophy. Her medical and family history was unrevealing. Her acetylcholine receptor antibody was negative, her laboratory was normal except thyroid hormone tests, but on needle electromyography, myotonic discharges were observed and repetitive nerve stimulation was positive, and she was responsive to anticholinesterase medication. It is well known that myasthenia gravis may be seen with thyrotoxicosis and also overlapped with other autoimmune diseases. The objective of this report is to discuss the unique coexistence of two distinct neuromuscular diseases in the same patient with an overlapped disease. Introduction Myotonic dystrophy (MyD) is an autosomal dominant disorder with highly variable clinical manifestations: affected patients may be asymptomatic, have minimal features ( e.g. cataract and asymptomatic myotonia ) or show moderately severe facial and distal limb muscle wasting and weakness, or be very severe congenital cases with hypotonia, respiratory insufficieny, dysphagia, talipes and mental retardation1. Myasthenia gravis ( MG ) is an autoimmune disorder causing postsynaptic impairment of neuromuscular transmission. Ocular, bulbar, or proximal limb muscles are most frequently affected, and weakness worsens during exercise2. We report the coexistence of these two disorders in a patient since this coexistence is extremely rare. Case Report Twenty-eight year old woman presented at our neurology outpatient clinics with difficulty chewing, swallowing, dysarthric speech, fatigue and palpitation for about 4 months. She first noticed hoarseness in her voice and had difficulty drinking liquids. Symptoms progressively worsened and restricted her daily life. Her symptoms worsened at the end of the day and after moderate exercise. Two months later she was referred to a ear-nose-throat unit of another institution for evaluation to rule out achalasia or postcricoid tumor. On physical examination, thyroid gland was palpable. Then, she was investigated for hyperthyroidism and thyroid hormone levels was as follows; T3: 602 pg/ml ( N: 80-200 ), T4: 30 ng/dl ( N: 4,5-12 ), TSH: < 0.002. Thyroid syntigraphy showed bilateral diffuse adenomatous hyperplasia. Treatment for hyperthyroidism was initiated and she was put on propylthiouracil 3x2 tb and propranolol 2x1/2 tb. Eusophagogastroduodenoscopy was informative other than chronic eusophagitis. Thorax CT revealed a upper mediastinal enlargement and reported as thymic hyperplasia or thymoma. Under treatment, her symptoms didn't improve then, she was referred to our institution to rule out any thymoma or thymic hyperplasia. The medical history was unremarkable. She had grown up without any major health problem and was not hypotonic. Family history was non-contributory for any muscle disease. When she was admitted to our hospital, she was anxious, and sweating. She complained of difficulty swallowing, drinking liquids, hoarseness in her voice, fatigue, heat intolerance, and sweating. She had slight bilateral ptosis with exopthalmus but without ophthalmoparesis ( orbicularis oculi 3-4/5 on Medical Research Council scale), bilateral facial weakness ( orbicularis oris 3/5 on Medical Research Council scale), decreased gag reflex, bilateral sternocleidomastoid and trapezius muscle weakness (4-5/5 on Medical Research Council scale ), quadriparesis ( deltoid, biceps, triceps 4-5/5, wrist flexors and extensors, finger flexors and extensors 4/5, gluteus maximus, medius, minimus, adductor, quardiceps femoris, biceps femoris 4-5/5, plant
机译:一位28岁以前健康的女性表现出吞咽和喝水困难四个月的历史,并伴有波动的近端无力。进行身体检查时,她的双侧眼睑有甲亢。她的面部外观,无萎缩的无力分布以及反射性肌强直,四肢瘫痪和gag反射降低导致临床诊断为重症肌无力和肌强直性营养不良。她的病史和家族史无人知晓。她的乙酰胆碱受体抗体是阴性的,除了甲状腺激素试验外她的实验室都是正常的,但是在针头肌电图上观察到了肌强直放电,并且重复的神经刺激是阳性的,并且她对抗胆碱酯酶药物有反应。众所周知,重症肌无力可伴有甲状腺毒症,也可与其他自身免疫性疾病重叠。本报告的目的是讨论同一患者重叠疾病中两种独特的神经肌肉疾病的独特共存。简介肌强直性营养不良(MyD)是一种常染色体显性遗传疾病,临床表现高度可变:受影响的患者可能无症状,特征最少(例如白内障和无症状性肌强直)或表现为中度严重的面部和远端肢体肌肉消瘦和虚弱,或者非常严重先天性肌张力低下,呼吸功能不全,吞咽困难,滑石粉和智力低下的病例1。重症肌无力(MG)是一种自身免疫性疾病,引起突触后神经肌肉传递受损。眼部,延髓或肢体近端肌肉受累最频繁,运动时无力加重2。我们报告患者中这两种疾病的共存,因为这种共存极为罕见。病例报告一名28岁的妇女在我们的神经内科门诊就诊,咀嚼,吞咽,发音异常,疲劳和心difficulty困难,持续了大约4个月。她首先注意到声音嘶哑,难以饮用液体。症状逐渐恶化并限制了她的日常生活。她的症状在一天结束和中度运动后恶化。两个月后,她被转诊到另一家机构的耳鼻喉科进行评估,以排除门失弛缓症或类环后肿瘤。经身体检查,可触及甲状腺。然后,对她的甲状腺功能亢进症进行了调查,甲状腺激素水平如下: T 3:602pg / ml(N:80-200),T 4:30ng / dl(N:4,5-12),TSH:<0.002。甲状腺综合征显示双侧弥漫性腺瘤样增生。开始治疗甲状腺功能亢进症,并给她服用丙硫氧嘧啶3x2 tb和普萘洛尔2x1 / 2 tb。食管胃十二指肠镜检查除慢性食管炎外还可以提供其他信息。胸部CT显示上纵隔增大,并报告为胸腺增生或胸腺瘤。经过治疗后,她的症状并没有改善,因此她被转诊到我们的机构以排除任何胸腺瘤或胸腺增生。病史不明显。她长大了,没有任何重大的健康问题,也没有低渗。家族史对任何肌肉疾病均无贡献。当她被送进我们的医院时,她很着急,出汗。她抱怨吞咽困难,喝水,声音嘶哑,疲劳,不耐高温和出汗。她患有轻度的双侧上睑下垂,但有眼球突出,但没有眼球瘫痪(医学研究理事会评估为圆形眼球3-4 / 5),双侧面部无力(医学研究理事会评估为圆形眼球3/5),堵嘴反射减弱,双侧胸锁乳突肌和斜方肌虚弱(医学研究理事会评分为4-5 / 5),四肢瘫痪(三角肌,二头肌,三头肌4-5 / 5,腕屈肌和伸肌,手指屈肌和伸肌4/5,臀大肌,中枢,中枢肌,内收肌,四头肌股二头肌股二头肌4-5 / 5植物

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