Perioperative Management of SEPN1-Related Myopathy Accompanying Scoliosis:A Case Report
10.12290/xhyxzz.2024-0428
- VernacularTitle:SEPN1基因相关肌病合并脊柱侧凸的围术期管理一例
- Author:
Weiyun CHEN
1
;
Yi DAI
;
Min QIAN
;
Jinqian LIANG
Author Information
1. 中国医学科学院北京协和医院麻醉科,北京 100730
- Publication Type:Journal Article
- Keywords:
SEPN1-related myopathy;
scoliosis;
perioperative management;
respiratory failure
- From:
Medical Journal of Peking Union Medical College Hospital
2025;16(4):995-1001
- CountryChina
- Language:Chinese
-
Abstract:
The SEPN1 gene encodes selenoprotein N,and mutations in this gene can cause SEPN1-re-lated myopathy(SEPN1-RM).SEPN1-RM is an extremely rare and complex congenital myopathy with an in-sidious onset and slow progression,often leading to multi-system involvement.The main clinical manifestations include axial and proximal muscle weakness,early respiratory dysfunction,and spinal deformities.This article reports the diagnosis and treatment conditions for a pediatric patient carrying novel mutation in SEPN1 gene who underwent spinal orthopedic fusion surgery.After detailed multidisciplinary evaluation,adequate preoperative preparation,and meticulous perioperative management,the patient successfully underwent high-risk spinal or-thopedic surgery and recovered well.Based on the patient's diagnosis,perioperative management,and follow-up,combined with the latest domestic and international literature,this article systematically discusses the diag-nostic and therapeutic characteristics of this rare disease.The aim is to enhance clinicians'understanding of such diseases and to provide evidence-based support and reference for perioperative comprehensive management for such diseases.
