• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

单阶段后路脊柱融合术治疗伴有脊柱侧弯的鲁宾斯坦-泰比综合征:病例说明

Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case.

作者信息

Imai Takeshi, Sakai Daisuke, Schol Jordy, Nagai Toshihiro, Hiyama Akihiko, Katoh Hiroyuki, Sato Masato, Watanabe Masahiko

机构信息

Department of Orthopaedic Surgery, Surgical Science, Tokai University School of Medicine, Isehara, Kanagawa, Japan.

出版信息

J Neurosurg Case Lessons. 2021 Mar 15;1(11):CASE20110. doi: 10.3171/CASE20110.

DOI:10.3171/CASE20110
PMID:35855076
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9241218/
Abstract

BACKGROUND

Rubinstein-Taybi syndrome (RTS) is a rare disorder with a range of congenital anomalies. Although 40% to 60% of patients with RTS have scoliotic deformities, few reports discuss the outcomes of correctional surgery and postoperative care. To raise awareness of the clinical features of RTS and surgical considerations, the authors report on the surgical treatment of a pediatric patient with RTS accompanied by scoliosis.

OBSERVATIONS

A 14-year-old girl with RTS presented with low back pain associated with progressive scoliosis. Because of jaw hypoplasia, videolaryngoscopy-mediated intubation was chosen. A single-stage T4-L3 posterior corrective fusion with instrumentation was successfully performed. Physical and imaging findings were analyzed up to 2 years after correction. The main thoracic Cobb angle was corrected from 73° to 12° and maintained for 2 years after surgery. The patient's low back pain resolved.

LESSONS

Careful consideration of RTS-associated complications and preoperative planning, including the use of videolaryngoscopy-mediated intubation, anesthesia selection, and postoperative care, proved crucial. Scoliosis may appear in many variations in rare diseases such as RTS. Publication of case reports such as this one is needed to provide detailed information about strategies and considerations for correcting scoliotic deformities in patients with RTS.

摘要

背景

鲁宾斯坦-泰比综合征(RTS)是一种伴有一系列先天性异常的罕见疾病。尽管40%至60%的RTS患者有脊柱侧凸畸形,但很少有报告讨论矫正手术的结果和术后护理。为提高对RTS临床特征和手术注意事项的认识,作者报告了1例患有RTS并伴有脊柱侧凸的儿科患者的手术治疗情况。

观察结果

一名14岁患有RTS的女孩因进行性脊柱侧凸出现下背部疼痛。由于下颌发育不全,选择了视频喉镜介导的插管方式。成功实施了一期T4-L3后路矫正融合内固定术。术后对患者进行了长达2年的体格检查和影像学检查。主胸弯Cobb角从73°矫正至12°,术后维持2年。患者的下背部疼痛得到缓解。

经验教训

仔细考虑与RTS相关的并发症和术前规划,包括视频喉镜介导的插管、麻醉选择和术后护理,被证明至关重要。脊柱侧凸在RTS等罕见疾病中可能有多种表现形式。需要发表此类病例报告,以提供有关RTS患者脊柱侧凸畸形矫正策略和注意事项的详细信息。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/569c/9241218/99bc868ce935/CASE20110f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/569c/9241218/55c714302b0c/CASE20110f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/569c/9241218/e0b704d873c1/CASE20110f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/569c/9241218/99bc868ce935/CASE20110f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/569c/9241218/55c714302b0c/CASE20110f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/569c/9241218/e0b704d873c1/CASE20110f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/569c/9241218/99bc868ce935/CASE20110f3.jpg

相似文献

1
Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case.单阶段后路脊柱融合术治疗伴有脊柱侧弯的鲁宾斯坦-泰比综合征:病例说明
J Neurosurg Case Lessons. 2021 Mar 15;1(11):CASE20110. doi: 10.3171/CASE20110.
2
Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report.2型鲁宾斯坦-泰比综合征脊柱侧弯的手术治疗:一例报告
J Med Case Rep. 2015 Jan 18;9:10. doi: 10.1186/1752-1947-9-10.
3
Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review.MRI 时代(1984-2008 年)的儿童颈椎后凸:文献回顾。
Childs Nerv Syst. 2022 Feb;38(2):361-377. doi: 10.1007/s00381-021-05409-z. Epub 2021 Nov 22.
4
A 10-Year Radiographic Study Comparing Anterior Versus Posterior Instrumented Spinal Fusion in Patients With Lenke Type 5 Adolescent Idiopathic Scoliosis.一项比较 Lenke 型 5 型青少年特发性脊柱侧凸患者前路与后路器械性脊柱融合的 10 年影像学研究。
Spine (Phila Pa 1976). 2020 May 1;45(9):612-620. doi: 10.1097/BRS.0000000000003331.
5
Cotrel-Dubousset instrumentation in neuromuscular scoliosis.Cotrel-Dubousset 器械在神经肌肉型脊柱侧凸中的应用。
Eur Spine J. 2011 May;20 Suppl 1(Suppl 1):S75-84. doi: 10.1007/s00586-011-1758-x. Epub 2011 Mar 15.
6
Evaluating the Change in Axial Vertebral Rotation Following Thoracoscopic Anterior Scoliosis Surgery Using Low-Dose Computed Tomography.使用低剂量计算机断层扫描评估胸腔镜前路脊柱侧弯手术后椎体轴向旋转的变化
Spine Deform. 2017 May;5(3):172-180. doi: 10.1016/j.jspd.2016.12.003.
7
Rubinstein-Taybi syndrome with scoliosis.伴有脊柱侧弯的鲁宾斯坦-泰比综合征。
Scoliosis. 2011 Sep 30;6:21. doi: 10.1186/1748-7161-6-21.
8
Changes in surface and radiographic deformity after Universal Spine System for right thoracic adolescent idiopathic scoliosis: is rib-hump reassertion a mechanical problem of the thoracic cage rather than an effect of relative anterior spinal overgrowth?通用脊柱系统治疗右胸段青少年特发性脊柱侧弯后表面及影像学畸形的变化:肋骨隆突复发是胸廓的机械问题而非相对的脊柱前方过度生长的影响吗?
Spine (Phila Pa 1976). 2001 Aug 15;26(16):1778-87. doi: 10.1097/00007632-200108150-00009.
9
Surgical treatment of scoliosis in larsen syndrome with bilateral hip dislocation.双侧髋关节脱位的拉森综合征脊柱侧弯的手术治疗
Spine (Phila Pa 1976). 2006 May 1;31(10):E302-6. doi: 10.1097/01.brs.0000216447.42297.17.
10
Complications and radiographic correction in adult scoliosis following combined transpsoas extreme lateral interbody fusion and posterior pedicle screw instrumentation.成人脊柱侧凸后路经皮椎弓根螺钉内固定联合经椎间孔椎间融合术后的并发症和影像学矫正。
Neurosurg Focus. 2010 Mar;28(3):E7. doi: 10.3171/2010.1.FOCUS09263.

本文引用的文献

1
Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect.伴有小脑异常和神经管缺陷的鲁宾斯坦-泰比综合征2型
Clin Dysmorphol. 2019 Jul;28(3):137-141. doi: 10.1097/MCD.0000000000000262.
2
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.2型鲁宾斯坦-泰比综合征:9例新病例报告,扩展了表型和基因型谱。
Clin Dysmorphol. 2016 Oct;25(4):135-45. doi: 10.1097/MCD.0000000000000143.
3
Anaesthetic Management of Children with Rubinstein-Taybi Syndrome.鲁宾斯坦-泰比综合征患儿的麻醉管理
Turk J Anaesthesiol Reanim. 2016 Jun;44(3):152-4. doi: 10.5152/TJAR.2016.76992. Epub 2016 Jun 1.
4
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.鲁宾斯坦-泰比综合征:临床特征、遗传基础、诊断及治疗
Ital J Pediatr. 2015 Jan 20;41:4. doi: 10.1186/s13052-015-0110-1.
5
Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report.2型鲁宾斯坦-泰比综合征脊柱侧弯的手术治疗:一例报告
J Med Case Rep. 2015 Jan 18;9:10. doi: 10.1186/1752-1947-9-10.
6
Keloids in Rubinstein-Taybi syndrome: a clinical study. Rubinstein-Taybi 综合征中的瘢痕疙瘩:一项临床研究。
Br J Dermatol. 2014 Sep;171(3):615-21. doi: 10.1111/bjd.13124. Epub 2014 Aug 21.
7
Epigenetic mechanisms of Rubinstein-Taybi syndrome.鲁宾斯坦-泰比综合征的表观遗传机制
Neuromolecular Med. 2014 Mar;16(1):16-24. doi: 10.1007/s12017-013-8285-3. Epub 2014 Jan 1.
8
The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein-Taybi syndrome.鲁宾斯坦-泰比综合征中神经轴与颅颈交界区异常与脊柱侧凸的关联。
Childs Nerv Syst. 2012 Dec;28(12):2163-8. doi: 10.1007/s00381-012-1893-7. Epub 2012 Aug 23.
9
Rubinstein-Taybi syndrome with scoliosis.伴有脊柱侧弯的鲁宾斯坦-泰比综合征。
Scoliosis. 2011 Sep 30;6:21. doi: 10.1186/1748-7161-6-21.
10
Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx.Rubinstein-Taybi 综合征相关 Chiari 畸形和脊髓空洞症的同卵双胞胎姐妹。
Am J Med Genet A. 2011 Nov;155A(11):2766-70. doi: 10.1002/ajmg.a.34227. Epub 2011 Sep 19.