摘要
目的探讨Segawa综合征的临床表现、遗传特点、诊断及治疗方法,提高对该病的认识。方法回顾性分析2019年2月就诊于陕西省康复医院的1例幼儿Segawa综合征的临床资料。结果男性患儿1岁时发病,表现为进行性加重肌张力障碍,运动功能逐渐倒退。遗传学检测为TH基因杂合突变,TH基因上有2个杂合变异,变异1为临床意义未明变异,变异2为致病性变异,按左旋多巴3mg·kg^-1·d^-1给予小剂量美多芭1/6片口服及康复训练,患儿病情明显改善。结论对肌张力障碍患者应尽早行遗传学检测,明确诊断,早治疗。
Objective To investigate the clinical manifestations,genetic characteristics,diagnosis and treatment of Segawa syndrome,and to improve the understanding of the disease.Methods The clinical data of one infant with Segawa syndrome and admitted to Shaanxi Provincial Rehabilitation Hospital in February 2019 were retrospectively analyzed.Results Segawa syndrome occurred when the boy was 1 years old,and the main manifestation was progressive aggravation of dystonia and progressive regression of motor function.The genetic test showed that there were two heterozygous mutations in TH gene.Variation 1 was clinically unknown mutation,while variation 2 was pathogenic mutation.After treating with 1/6 tablets of metoba based on the levodopa content of 3 mg·kg^-1·d^-1 and rehabilitation training,the condition of the children was significantly improved.Conclusion Genetic testing should be done as soon as possible for diagnosis and treatment of dystonia.
作者
李丹丹
李红霞
何喜宁
LI Dandan;LI Hongxia;HE Xining(Department of Child Rehabilitation,Shaanxi Rehabilitation Hospital,Shaanxi Xi'an 710065,China)
出处
《中国妇幼健康研究》
2020年第10期1433-1436,共4页
Chinese Journal of Woman and Child Health Research
