新生儿惊厥2例临床及基因分析

Clinical and gene analysis of neonatal convulsion in 2 cases

目的探讨新生儿惊厥的诊断及治疗。方法回顾分析2例新生儿惊厥病例的临床资料。结果 2例患儿均为男性,1例为早产儿,均于生后第2天发生惊厥。入院后经各项检查除外常见惊厥原因后行基因检测。例1为SCN2A基因突变(c.5558A>G,p.H1853R),给予苯巴比妥止惊,后加用托吡酯,无明显好转;例2为KCNQ2基因突变(c.836G>A,p.G 279 D),为新发突变,口服苯巴比妥,生后21天加用左乙拉西坦并逐渐加量,第36天加用托吡酯并逐渐加量,下肢肌张力仍稍高。结论新生儿惊厥病因复杂,基因检测可明确病因,并可为治疗及预后评估提供参考。

Objective To explore the diagnosis and treatment of neonatal convulsion.Method The clinical data of neonatal convulsion in two cases were retrospectively analyzed.Results Two children were both males,and one was premature.Convulsions occurred on the second day after birth.The gene detection was performed after the common causes of convulsions were excluded after admission.The SCN2A gene mutation(c.5558A>G,p.H1853R)was found in case one and the treatment with luminal and topiramate had no obvious effect.The KCNQ2 gene mutation(c.836G>A,p.G279D),a novel mutation,was found in case two.Initially luminal was orally administered.Keppra and topiramate were added on 21st and 36th day respectively after birth and their dosages were increased gradually.The muscle tension of the lower extremities is still slightly higher.Conclusion The etiology of neonatal convulsion is complex.Gene detection can identify the cause and provide a reference for the treatment and prognosis evaluation.