肝豆状核变性合并重症肌无力1例

doi:10.6040/j.issn.1671-7554.0.2020.1280

摘要/Abstract

摘要： 目的探讨肝豆状核变性与重症肌无力两者并存发生是否具有关联性,提高对这一少见合并症的认识。方法回顾1例肝豆状核变性合并重症肌无力的临床资料并复习相关文献。结果病例为20岁女性,既往诊断为肝豆状核变性,因右侧眼睑下垂1个月再次入院,疲劳试验及新斯的明试验阳性,血清抗乙酰胆碱受体抗体阳性,诊断为重症肌无力;肝豆状核变性,经溴吡斯的明、泼尼松治疗后症状好转出院。结论本例患者的重症肌无力表现可能与肝豆状核变性无明确相关性,但在临床上当肝豆状核变性患者特别是应用青霉胺的患者出现眼睑下垂等肌无力症状时,应考虑到重症肌无力的可能。

关键词: 肝豆状核变性, 重症肌无力, 青霉胺, 乙酰胆碱受体

Abstract: Objective To investigate the correlation between hepatolenticular degeneration and myasthenia gravis. Methods The clinical data of 1 case of hepatolenticular degeneration with myasthenia gravis were analyzed and relevant literature was reviewed. Results The patient was a 20-year-old female who was diagnosed as hepatolenticular degeneration before. She was readmitted due to ptosis for one month. Fatigue test, neostigmine test, and blood test of anti-acetylcholine receptor antibody(AchR)all showed positive results. The diagnosis of myasthenia gravis with hepatolenticular degeneration was established. After administration of pyridostigmine bromide and prednisone, the patient was discharged with significant improvement of clinical symptoms. Conclusion Myasthenia gravis in this patient may not be associated with hepatolenticular degeneration. But for patients with hepatolenticular degeneration, especially those who take penicillamine, when symptoms of muscle weakness present, myasthenia gravis should be considered.

Key words: Hepatolenticular degeneration, Myasthenia gravis, Penicillamine, Acetylcholine receptor

中图分类号:

R741

高小丽,周雪颖,周盛年. 肝豆状核变性合并重症肌无力1例[J]. 山东大学学报 (医学版), 2021, 59(1): 88-90.

GAO Xiaoli, ZHOU Xueying, ZHOU Shengnian. Hepatolenticular degeneration with myasthenia gravis: a case report[J]. Journal of Shandong University (Health Sciences), 2021, 59(1): 88-90.

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