目的　探讨SGCE基因变异导致肌阵挛-肌张力障碍综合征的临床及基因变异特点。方法　回顾分析1例肌 阵挛-肌张力障碍患儿的临床资料，并复习相关文献。结果　患儿，男， 3岁； 1岁半起病，以发作性肢体抽动、行走不稳、 姿势和运动障碍为主要临床表现，智力、语言和情绪等无异常；反复头颅磁共振成像、脑电图、血尿代谢筛查等无异常。全 外显子测序发现SGCE基因c.1037+1G>A的缺失变异，为新发突变，国内外未见该基因位点突变报道。患儿确诊为SGCE 肌阵挛-肌张力障碍，经唑尼沙胺治疗有效。结论　确诊SGCE基因新发现的c.1037+1G>A变异可致肌阵挛-肌张力障碍， 首选唑尼沙胺治疗。

Objective　To explore the clinical and genetic characteristics of myoclonic-dystonia syndrome (MDS) caused by SGCE gene mutation. Method　The clinical data of myoclonic-dystonia in a child was retrospectively analyzed and the related literature was reviewed. Results　A 3-year-old boy had onset at 1.5 years old. The main clinical manifestations were paroxysmal limb twitch, walking instability, posture disorder and dyskinesia, and there were no abnormalities in intelligence, language and emotion. Repeated cranial magnetic resonance imaging, electroencephalogram and hematuria metabolism screening showed no abnormality. A splicing mutation of c.1037+1G>A in SGCE gene was found by whole exon sequencing. It’s a new mutation and had not been reported at home and abroad. The diagnosis of SGCE myoclonic-dystonia was confirmed, and the treatment with zonisamide was effective. Conclusion　The newly discovered c.1037+1G>A mutation of the SGCE gene can cause myoclonus-dystonia, and zonisamide is the first choice.