拉莫三嗪治疗Becker型先天性肌强直一例并文献复习

Treatment of Becker myotonia congenita with lamotrigine: one case report and review of literatures

目的报道拉莫三嗪治疗1例Becker型先天性肌强直患者的疗效及安全性。方法与结果17岁男性患者,以四肢肌肉僵硬为首发症状,反复运动后症状减轻,血清肌酸激酶水平正常,基因检测提示存在CLCN1基因外显子11 c.1205C>T(p.Ala402Val)及CLCN1基因外显子8 c.896T>C(p.Val299Ala)错义突变,确诊为Becker型先天性肌强直;其母为CLCN1基因外显子11 c.1205C>T(p.Ala402Val)、其父为CLCN1基因外显子8 c.896T>C(p.Val299Ala)错义突变,确诊为Becker型先天性肌强直家系,其中CLCN1基因外显子8 c.896T>C突变尚无报道。经拉莫三嗪连续治疗5年后肌强直症状长期缓解,且无任何药物不良反应。结论该例CLCN1基因外显子8 c.896T>C错义突变进一步扩展了CLCN1基因突变谱。拉莫三嗪治疗效果良好,为Becker型先天性肌强直的治疗提供了新的思路。

Objective To report the efficacy and safety of lamotrigine in the treatment of one case of Becker myotonia congenita.Methods and Results A 17-year-old male had muscle stiffness in the limbs as the first symptom,which could be alleviated after repeated exercise.The creatine kinase(CK)level was normal.Genetic testing showed there were two missense mutations c.1205 C>T(p.Ala402 Val)and c.896 T>C(p.Val299 Ala)located in exon 11 and 8 of CLCN1 gene respectively in the proband.The missense mutation c.1205 C>T(p.Ala402 Val)in exon 11 was found out in his mother and c.896 T>C(p.Val299 Ala)located in exon 8 was found out in his father.The latter,exon 8 c.896 T>C of CLCN1 gene has not been reported.The proband was clearly diagnosed as Becker myotonia congenita,and his family was diagnosed as Becker myotonia congenita pedigree.After 5 years’treatment with lamotrigine,the symptom of myotonia was significantly improved and no adverse reactions was observed.Conclusions The missense mutation in exon 8 c.896 T>C in this patient further expanded the CLCN1 gene mutation spectrum.Lamotrigine is effective in treating Becker myotonia congenita,providing a new idea for the treatment of myotonia congenita.