Study Design: 

This was a retrospective case series.

Objective: 

The objective of this study was to discuss the treatment challenges in scoliosis patients with Rett syndrome (RTT) in a national referral centre for RTT. We describe structural characteristics of curves, age of onset, genetic mutation, ambulation status, and treatment through RTT progression. Based on this unique experience, we aimed to suggest guidelines for scoliosis treatment in RTT patients.

Summary of Background Data: 

RTT is a neurodevelopmental disorder associated with a mutation in the methyl-CpG binding protein 2 (MECP2) gene, primarily in females with significant features of growth failure, gastrointestinal and pulmonary dysfunction, ataxia, seizures, and intellectual disability. Scoliosis is the most common orthopedic manifestation of RTT and is present in 64%–75% of patients. No clear guidelines for scoliosis treatment in RTT are available, and typically patients are treated according to guidelines of another neuromuscular scoliosis.

Methods: 

Clinical and radiographic data were gathered, including MECP2 mutation type, scoliosis characteristics, preoperative treatment, surgical treatment, functional status, and postoperative follow-up.

Results: 

Our cohort included 102 patients with RTT. They were 36 who presented with scoliosis; 18 were treated surgically. C-curve was found in 17 patients and S-type in 19. Scoliosis treatment onset was 8.76 years in the C-type group and 13.88 years in the S-type group. The average curve at the time of surgery was 52.42 degrees. The average time until surgery was 2.44 years. Seventeen patients underwent posterior spinal fusion, and 1 patient underwent posterior spinal fusion+anterior spinal fusion with an average correction of 40 degrees. The most common mutation was R255X nucleotide (30% of cases). The most severe curves had mutations R168X and R270X nucleotides.

Conclusions: 

We advise early monitoring for patients with RTT and scoliosis due to early and rapid progression. Common mutations found were R255X, R168X, R270X, and T158M. We recommend surgical treatment in every curve above 45 degrees, independently of age.

中文翻译：

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RETT 综合征脊柱侧弯：国家转诊中心的经验

学习规划： 

这是一个回顾性病例系列。

客观的： 

本研究的目的是讨论国家 RTT 转诊中心 Rett 综合征 (RTT) 脊柱侧弯患者的治疗挑战。我们通过 RTT 进展描述曲线的结构特征、发病年龄、基因突变、行走状态和治疗。基于这一独特的经验，我们旨在为 RTT 患者的脊柱侧凸治疗提出指南。

背景数据摘要： 

RTT 是一种与甲基 CpG 结合蛋白 2 (MECP2) 基因突变相关的神经发育障碍，主要发生在具有生长障碍、胃肠道和肺功能障碍、共济失调、癫痫发作和智力障碍等显着特征的女性中。脊柱侧弯是 RTT 最常见的骨科表现，存在于 64%–75% 的患者中。没有明确的 RTT 脊柱侧凸治疗指南，通常患者根据另一种神经肌肉型脊柱侧弯的指南进行治疗。

方法： 

收集临床和影像学资料，包括 MECP2 突变类型、脊柱侧弯特征、术前治疗、手术治疗、功能状态和术后随访。

结果： 

我们的队列包括 102 名 RTT 患者。他们有 36 人患有脊柱侧弯；18 人接受了手术治疗。C型17例，S型19例。C型组脊柱侧凸治疗时间为8.76年，S型组为13.88年。手术时的平均曲线为 52.42 度。手术前的平均时间为 2.44 年。17例患者行后路脊柱融合术，1例患者行后路脊柱融合术+前路脊柱融合术，平均矫正40度。最常见的突变是 R255X 核苷酸（30% 的病例）。最严重的曲线具有突变 R168X 和 R270X 核苷酸。

结论： 

由于早期和快速进展，我们建议对 RTT 和脊柱侧凸患者进行早期监测。发现的常见突变是 R255X、R168X、R270X 和 T158M。我们建议对超过 45 度的所有曲线进行手术治疗，与年龄无关。