肝豆状核变性并发腿痛趾动综合征1例及文献复习

Hepatolenticular Degeneration with Painful Legs and Moving Toes: A Case Report and Literature Review

目的报告1例肝豆状核变性合并腿痛趾动综合征(PLMT)病例。方法总结1例肝豆状核变性合并PLMT患者的临床资料,结合文献对PLMT进行分析。结果复习和综合了21篇文献报道的共计72例PLMT患者,其中男性34.7%、女性65.3%,平均年龄分别为55、64岁。最常见的、易被损害的病因是末梢神经病及神经根病。文献记载的治疗方法较多,包括抗癫药、安定剂、镇痛药、抗抑郁药等,均对少数病例试用有效。但以γ-氨基丁酸类药物加巴喷丁及普瑞巴林对减轻疼痛和不自主运动最为有效,可能与中枢神经及周围神经的发病机制相关。结论肝豆状核变性可并发PLMT。

Aim To report a case ofhepatolenticular degeneration （HLD） with painful legs and moving toes （PLMT） along. Methods A case of HLD with PLMT along and discussion on its clinical management were reported. The literature on PLMT was reviewed. Results A total of 72 patients, 34.7% males and 65.3% females （median age of 55 and 64 yeas, respectively） repoted in 21 PLMT articles were reviewed. The most common predisposing factors were neuropathy and radiculopathy. Numerous treatment including antiepileptics, benzodiazepines, analgesic and antidepressant agents have been tried with success to a few cases. GABA agonists such as gabapentin and pregabalin were the most effective in attenuating the pain and movements possibly via both central and peripheral mechanisms. Conclusion Though much progress of PLMT has been made in elucidating its etiology, the exact mechanism will remains a mystery.