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Perioperative Management of SEPN1-Related Myopathy Accompanying Scoliosis: A Case Report
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摘要: SEPN1基因负责编码硒蛋白N，其突变可引发SEPN1相关肌病（SEPN1-RM）。SEPN1-RM是一种极为罕见且复杂的先天性肌病，起病隐匿，进展缓慢，常导致多系统受累，主要临床表现包括轴向和近端肌肉无力、早期呼吸功能损害及脊柱畸形等。本文报告1例携带SEPN1基因新发位点突变患儿接受脊柱矫形融合术的诊疗情况。患儿经过详细的多学科评估、充分术前准备、精细化围术期管理，成功完成了高风险脊柱矫形手术，且恢复良好。本文通过对患儿诊断、围术期管理及随访情况，并结合国内外最新文献综述，系统探讨了该罕见疾病的诊疗特点，旨在提高临床医师对此类疾病的认知，并为罕见病的围术期综合管理方案提供循证依据和借鉴。
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关键词:
- SEPN1基因相关肌病 /
- 脊柱侧凸 /
- 围术期管理 /
- 呼吸衰竭
Abstract: The SEPN1 gene encodes selenoprotein N, and mutations in this gene can cause SEPN1-related myopathy (SEPN1-RM). SEPN1-RM is an extremely rare and complex congenital myopathy with an insidious 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 orthopedic surgery and recovered well. Based on the patient's diagnosis, perioperative management, and follow-up, combined with a review of the latest domestic and international literature, this article systematically discusses the diagnostic 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 strategies for rare diseases.-
Keywords:
- SEPN1-related myopathy /
- scoliosis /
- perioperative management /
- respiratory failure
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