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

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 RT...

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Autores principales: Imai, Takeshi, Sakai, Daisuke, Schol, Jordy, Nagai, Toshihiro, Hiyama, Akihiko, Katoh, Hiroyuki, Sato, Masato, Watanabe, Masahiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association of Neurological Surgeons 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9241218/
https://www.ncbi.nlm.nih.gov/pubmed/35855076
http://dx.doi.org/10.3171/CASE20110
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author Imai, Takeshi
Sakai, Daisuke
Schol, Jordy
Nagai, Toshihiro
Hiyama, Akihiko
Katoh, Hiroyuki
Sato, Masato
Watanabe, Masahiko
author_facet Imai, Takeshi
Sakai, Daisuke
Schol, Jordy
Nagai, Toshihiro
Hiyama, Akihiko
Katoh, Hiroyuki
Sato, Masato
Watanabe, Masahiko
author_sort Imai, Takeshi
collection PubMed
description 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.
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spelling pubmed-92412182022-07-18 Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case Imai, Takeshi Sakai, Daisuke Schol, Jordy Nagai, Toshihiro Hiyama, Akihiko Katoh, Hiroyuki Sato, Masato Watanabe, Masahiko J Neurosurg Case Lessons Case Report 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. American Association of Neurological Surgeons 2021-03-15 /pmc/articles/PMC9241218/ /pubmed/35855076 http://dx.doi.org/10.3171/CASE20110 Text en © 2021 The authors https://creativecommons.org/licenses/by-nc-nd/4.0/CC BY-NC-ND 4.0 (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ).
spellingShingle Case Report
Imai, Takeshi
Sakai, Daisuke
Schol, Jordy
Nagai, Toshihiro
Hiyama, Akihiko
Katoh, Hiroyuki
Sato, Masato
Watanabe, Masahiko
Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case
title Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case
title_full Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case
title_fullStr Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case
title_full_unstemmed Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case
title_short Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case
title_sort rubinstein-taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9241218/
https://www.ncbi.nlm.nih.gov/pubmed/35855076
http://dx.doi.org/10.3171/CASE20110
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