中国实用儿科杂志

中国实用儿科杂志 ›› 2025, Vol. 40 ›› Issue (7): 608-612.DOI: 10.19538/j.ek2025070615

• 病例报告 • 上一篇    下一篇

TANGO2 基因突变导致发作性肌张力障碍伴横纹肌溶解 1 例

  

  1. 1.首都医科大学附属北京儿童医院保定医院神经内科，河北  保定  071000；2.国家儿童医学中心（北京）首都医科
    大学附属北京儿童医院神经内科，北京  100045
  • 出版日期:2025-07-06 发布日期:2025-09-02
  • 通讯作者: 丁昌红，电子信箱：13641290689@163.com
  • 基金资助:
    河北省卫生健康委科研基金项目（20232035）

A case of paroxysmal dystonia with rhabdomyolysis caused by a TANGO2 gene mutation

  1. *Department of Neurology，Baoding Hospital of Beijing Children’s Hospital，Capital Medical University，Baoding  071000，China
  • Online:2025-07-06 Published:2025-09-02

摘要：

收集2023-12-30就诊于首都医科大学附属北京儿童医院保定医院神经内科的1例 TANGO2基因突变导致发作性肌张力障碍伴横纹肌溶解5岁女性患儿临床资料并分析，患儿以感染后横纹肌溶解症、肌酸激酶升高、高氨血症为主要症状，分析其病史、体格检查、实验室辅助检查，结合患儿基因检测结果，确诊为 TANGO2缺陷障碍（TANGO2 deficiency disorder，TDD）。查阅国内外相关文献，总结该病临床特点、诊断及治疗经验，进而总结 TANGO2缺陷障碍临床特征、诊断与治疗。

关键词:

Abstract:

Collect clinical data of one female patient aged 5 with TANGO2 gene mutation leading to episodic dystonia accompanied by rhabdomyolysis， who was admitted to the Department of Neurology， Baoding Hospital of Beijing Children’s Hospital Affiliated to Capital Medical University on December 30， 2023. The main symptoms of the patient were rhabdomyolysis after infection， elevated creatine kinase， and hyperammonemia. By analyzing the patient’s medical history， physical examination， laboratory tests， and combining the genetic test results， the diagnosis was confirmed as TANGO2 deficiency disorder （TDD）. The relevant domestic and international literature was reviewed， summarize the clinical features， diagnosis， and treatment experience of this disease were summarized， and further summarize the clinical characteristics， diagnosis， and treatment of TANGO2 deficiency disorder were further summarized.

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