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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.

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/9241218/55c714302b0c/CASE20110f1.jpg

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