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目的:对少见疾病Hoffman’s综合征的临床表现、实验室检查、诊断、治疗及预后进行分析和评估。方法:对我科近年收治的二例Hoffman’s综合征的临床表现进行总结,分析磷酸肌酸激酶(CPK)、三磺甲状原氨酸(T3)、四磺甲状腺原氨酸(T4)等血浆水平在治疗前后的变化,分析肌电图及肌活检在诊断中的作用,评估左旋甲状腺素(LT)的治疗效果及病人预后。结果:Hoffman’s综合征主要表现为肌无力,肌肉肥厚,肌痛,运动迟缓,肌张力增高及腱反射减弱等,血CPK水平明显升高,T3、T4水平明显下降,肌活检在光学显微镜下的改变为肌纤维萎缩、变性,无炎细胞浸润,肌电图呈轻度神经源性改变,经LT治疗后症状在第二至三天后即开始改善,一个月后症状消失,血浆T3、T4等水平逐渐上升,CPK水平逐渐下降,至第四周时几乎均恢复正常。结论:结合临床表现、肌电图及肌活检等检查可对Hoffman’s综合征作出明确诊断,经LT治疗后症状很快开始改善,治疗效果良好,预后良好。
Objective: To analyze and evaluate the clinical manifestations, laboratory tests, diagnosis, treatment and prognosis of Hoffman’s syndrome. Methods: The clinical manifestations of two cases of Hoffman’s syndrome treated in our department in recent years were summarized. Plasma levels of creatine phosphokinase (CPK), trisulfonated thyroxine (T3), and tetramethylsulfotyrosine (T4) were analyzed. Changes before and after treatment, analysis of electromyography and muscle biopsy in the diagnosis of the role of assessment of the therapeutic effect of levothyroxine (LT) and the prognosis of patients. Results: Hoffman’s syndrome mainly manifested as muscle weakness, hypertrophy, myalgia, bradykinesia, increased muscle tone and decreased tendon reflexes, blood CPK levels were significantly elevated, T3, T4 levels decreased significantly, muscle biopsy under light microscope Changed to muscle fiber atrophy, degeneration, non-inflammatory cell infiltration, EMG showed mild neurogenic changes after LT treatment symptoms began to improve in the second to three days, one month after the symptoms disappeared, plasma T3, T4 and other levels Gradually increased, CPK levels gradually declined, almost to normal by the fourth week. Conclusion: Hoffman ’s syndrome can be diagnosed in combination with clinical manifestations, electromyography and muscle biopsy. After LT treatment, the symptoms begin to improve rapidly, and the treatment effect is good and the prognosis is good.