儿童先天性肌强直治疗3例报道

doi:10.12372/jcp.2025.24e1272

临床儿科杂志 ›› 2025, Vol. 43 ›› Issue (9): 692-697.doi: 10.12372/jcp.2025.24e1272

儿童先天性肌强直治疗3例报道

常亚¹^,², 周昀箐¹^,²(), 王纪文¹^,², 吴鸿雁¹^,², 羊芳菲¹^,², 孙丽娜¹^,²

1.上海交通大学医学院附属上海儿童医学中心海南医院（海南三亚 053200）
2.上海交通大学医学院附属上海儿童医学中心（上海 200127）

收稿日期:2024-11-27 录用日期:2025-05-09 出版日期:2025-09-15 发布日期:2025-08-27
通讯作者: 周昀箐电子信箱：zhouyunqing@scmc.com.cn
基金资助:
海南省卫生健康科技创新联合项目2025(WSJK2025QN038)

Treatment of congenital myotonia: a case series of 3 pediatric patients

CHANG Ya¹^,², ZHOU Yunqing¹^,²(), WANG Jiwen¹^,², WU Hongyan¹^,², YANG Fangfei¹^,², SUN Lina¹^,²

1. Hainan Branch,Shanghai Children's Medical Center, School of Medicine,Shanghai Jiao Tong University, Sanya 053200, Hainan, China
2. Department of Neurology, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China

Received:2024-11-27 Accepted:2025-05-09 Published:2025-09-15 Online:2025-08-27

摘要/Abstract

摘要：

目的研究先天性肌强直（MC）患儿的临床特点、基因检测结果和奥卡西平治疗效果。方法回顾性分析总结了3例MC患儿的临床表现及治疗经过，所有患儿均进行的二代测序基因检测。结果 3例患儿均有运动障碍表现，最初被误诊为发作性运动诱发性运动障碍（PKD），但后来通过基因检测发现CLCN1基因存在突变，确诊为MC。3例经奥卡西平治疗后症状均缓解。结论 MC患者表现出“热身现象”、家族病史和特定的基因型，临床表现多样化。药物治疗如美西律和乙酰唑胺对于MC患者有效，但需根据患者具体情况进行个体化治疗。早期诊断和正确治疗对于提高患者生活质量和预后至关重要。本研究初步认为奥卡西平治疗MC有效，对于临床实践具有一定的指导意义。

关键词: 先天性肌强直, 奥卡西平, 儿童医学, 发作性运动诱发性运动障碍

Abstract:

Objective To investigate the clinical characteristics, genetic profiles, and therapeutic outcomes of oxcarbazepine in children with congenital myotonia (MC). Methods A retrospective analysis was conducted on three pediatric MC cases, summarizing their clinical manifestations and treatment courses. All patients underwent next-generation sequencing (NGS) for genetic diagnosis. Results All three cases initially presented with movement disorders and were misdiagnosed as paroxysmal kinesigenic dyskinesia (PKD). Genetic testing revealed pathogenic variants in the CLCN1 gene, confirming MC diagnosis. Remarkably, all patients achieved symptomatic relief after oxcarbazepine administration. Conclusions MC patients exhibit diverse clinical features, including the "warm-up phenomenon," positive family history, and specific genotypes. While medications such as mexiletine and acetazolamide are effective, individualized treatment strategies are essential. Early diagnosis and proper intervention are crucial for improving patients' quality of life and prognosis. This study preliminary report the efficacy of oxcarbazepine in MC treatment, providing valuable insights for clinical practice.

Key words: myotonia congenita, oxcarbazepine, pediatric medicine, paroxysmal kinesigenic dyskinesia

中图分类号:

常亚, 周昀箐, 王纪文, 吴鸿雁, 羊芳菲, 孙丽娜. 儿童先天性肌强直治疗3例报道[J]. 临床儿科杂志, 2025, 43(9): 692-697.

CHANG Ya, ZHOU Yunqing, WANG Jiwen, WU Hongyan, YANG Fangfei, SUN Lina. Treatment of congenital myotonia: a case series of 3 pediatric patients[J]. Journal of Clinical Pediatrics, 2025, 43(9): 692-697.

图/表 3

参考文献 16

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项目	病例1	病例2	病例3
性别	男	男	女
起病年龄	1岁	10月龄	4岁
家族史	有	有	不详
症状	热身现象	热身现象，肌球现象	热身现象
体格检查	大力士外观	大力士外观	肌容积饱满
肌电图	肌强直单位	肌强直单位	未见异常
CLCN1基因变异位点	c.918C>A p.Phe306Leu Chr7(GRCh37): g.143027929C>A c.1723C>T; p.Pro575Ser Chr7 (GRCh37): g.143039162C>T	c.918C>A p.Phe306Leu Chr7(GRCh37): g.143027929C>A	C.1166+4A>C，C.2172+1G>C
治疗	奥卡西平300 mg，bid	奥卡西平600 mg，bid	奥卡西平150 mg，bid

项目	MC	PKD
肌电图	肌强直单位	通常正常
触发因素	寒冷、静止后活动	突然运动
症状持续时间	持续数分钟至数小时	数秒至数分钟
热身现象	存在	不存在
基因突变	CLCN1	PRRT2
治疗	钠通道阻滞剂（美西律等）	钠通道阻滞剂（卡马西平等）

儿童先天性肌强直治疗3例报道

Treatment of congenital myotonia: a case series of 3 pediatric patients

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