Isaacs综合征的临床病理研究

Clinical and pathological study of Isaacs syndrome

目的探讨Isaacs综合征的临床特点、病理、诊断及治疗方法。方法回顾性分析14例Isaacs综合征的临床表现、实验室检查及治疗预后。结果14例均表现为连续性自发性肌肉颤搐,睡眠时不消失。肌电图可见持续的自发的运动电位发放。肌肉呈神经源性病理改变。卡马西平或苯妥英钠控制症状较好。结论肌肉颤搐及典型肌电图表现和病理可诊断本病,卡马西平或苯妥英钠可以控制症状,也可进行免疫治疗。

Objective To evaluate the characteristics, pathology, diagnosis and therapy of Isaacs syndrome. Methods To analyze clinical data,laboratory examination,treatment and prognosis of 14 cases with Isaacs syndrome retrospectively. Results The primary clinical characteristics of 14 cases had spontaneous and persistent muscle cramps that don＇t disappear during sleeping. Electromyography showed spontaneous and continuous motor unit discharges. Muscle pathology showed neuropathic changes. Carbamazepine or phenytoin could relieve the most clinical characteristics. Conclusions Clinical features of myokymia and the changes of EMG contribute to the diagnosis of Isaacs＇syndrome. The symptomatic treatment consists of administration of carbamazepine or phenytoin,the immunomodulating therapeutic approaches can be tried.