Scholarlink

Background <p>KMT2B-related dystonia (DYT-28) is a recently recognized cause of early-onset generalized dystonia. Pallidal deep brain stimulation (GPi-DBS) is considered the preferred surgical treatment; however, access, cost, and hardware-related concerns may limit its feasibility, especially in children from resource-constrained settings. Ablative procedures have been rarely reported in this genetic subtype.</p> Case description <p>We report a 9-year-old boy with genetically confirmed KMT2B-related generalized dystonia who underwent simultaneous bilateral radiofrequency pallidotomy. The child had severe, progressive, medically refractory dystonia with a preoperative Burke–Fahn–Marsden Dystonia Rating Scale movement score (BFMDRS-M) of 88. Postoperatively, there was a sustained improvement in dystonia with BFMDRS-M improving to 72 immediately and to 60 at follow-up. Transient hypophonia was the only noted complication and resolved within 1 month. Results remain stable at 18-month follow-up.</p> Conclusion <p>This case represents the first reported pediatric bilateral pallidotomy for DYT-28 dystonia. Radiofrequency pallidotomy may be a viable alternative in selected children when DBS is not feasible. Longer follow-up and larger studies are required to establish long-term efficacy and safety.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Bilateral pallidotomy for DYT-28 generalized primary dystonia in a child: a case report and review of literature

  • 期刊论文

  • 发表日期：

    2026年5月23日

查看全文
  • Mohit Agrawal,
  • Sarbesh Tiwari,
  • Swati Chhabra,
  • Lokesh Saini

摘要

Background

KMT2B-related dystonia (DYT-28) is a recently recognized cause of early-onset generalized dystonia. Pallidal deep brain stimulation (GPi-DBS) is considered the preferred surgical treatment; however, access, cost, and hardware-related concerns may limit its feasibility, especially in children from resource-constrained settings. Ablative procedures have been rarely reported in this genetic subtype.

Case description

We report a 9-year-old boy with genetically confirmed KMT2B-related generalized dystonia who underwent simultaneous bilateral radiofrequency pallidotomy. The child had severe, progressive, medically refractory dystonia with a preoperative Burke–Fahn–Marsden Dystonia Rating Scale movement score (BFMDRS-M) of 88. Postoperatively, there was a sustained improvement in dystonia with BFMDRS-M improving to 72 immediately and to 60 at follow-up. Transient hypophonia was the only noted complication and resolved within 1 month. Results remain stable at 18-month follow-up.

Conclusion

This case represents the first reported pediatric bilateral pallidotomy for DYT-28 dystonia. Radiofrequency pallidotomy may be a viable alternative in selected children when DBS is not feasible. Longer follow-up and larger studies are required to establish long-term efficacy and safety.