Neurosurgical Management of Rubinstein-Taybi Syndrome: An Institutional Experience.

IF 0.9 4区医学 Q4 CLINICAL NEUROLOGY

Pediatric Neurosurgery Pub Date : 2024-08-19 DOI:10.1159/000540931

Regan M Shanahan, Joseph S Hudson, Martin G Piazza, Faith Kehinde, Sharath Kumar Anand, Damara Ortiz, Suneeta Madan-Khetarpal, Stephanie Greene

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引用次数: 0

Abstract

Introduction: Rubinstein-Taybi syndrome (RTS) is a rare genetic condition with a distinctive set of physical features. This case series reports a single institutional experience of RTS cases, highlighting the role of neurosurgery in the comprehensive management of RTS patients.

Methods: A retrospective review of patients with genetically confirmed RTS presenting between 2010 and 2023 at Children's Hospital of Pittsburgh was performed. Patient demographics, genetic profile, clinical symptoms, radiographic characteristics, and neurosurgical management were recorded for all patients.

Results: Twenty-one patients (13 females, 8 males) aged 0 to 22 years presented for formal genetic counseling and diagnosis. Twenty patients (95%) had CREBBP pathogenic variants (RTS type 1), and 1 patient (5%) had EP300 pathogenic variants (RTS type 2). Ten patients (48%) had a low-lying conus medullaris, and 3 patients (30%) underwent subsequent spinal cord detethering. Four patients (19%) had a Chiari malformation, and three (75%) underwent Chiari decompression surgeries. One patient (5%) had Chiari-associated syringomyelia.

Conclusions: RTS patients have an increased rate of tethered cord syndrome requiring detethering. The incidence of symptomatic Chiari I malformation requiring decompression has not been previously reported. The RTS series presented here demonstrates a high incidence of symptomatic Chiari I malformation in addition to tethered cord syndrome.

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鲁宾斯坦-泰比综合征的神经外科治疗：机构经验

目的：鲁宾斯坦-泰比综合征（Rubinstein-Taybi Syndrome，RTS）是一种罕见的遗传病，具有一系列独特的身体特征。本系列病例报告了一家医疗机构的 RTS 病例，强调了神经外科在 RTS 患者综合治疗中的作用：方法：我们对 2010-2023 年间在匹兹堡儿童医院就诊的经基因证实的 RTS 患者进行了回顾性研究。记录了所有患者的人口统计学特征、遗传特征、临床症状、影像学特征和神经外科治疗方法：21名年龄在0至22岁之间的患者（13名女性，8名男性）接受了正式的遗传咨询和诊断。20名患者（95%）有CREBBP致病变体（RTS 1型），1名患者（5%）有EP300致病变体（RTS 2型）。10名患者（48%）有低位圆锥髓质，3名患者（30%）随后接受了脊髓脱系术。四名患者（19%）患有Chiari畸形，三名患者（75%）接受了Chiari减压手术。一名患者（5%）患有Chiari相关性鞘膜积液：结论：RTS患者发生需要解系的系绳综合征的比例较高。结论：RTS患者中需要解缆的系绳综合征发生率增加，而需要减压的症状性Chiari I畸形的发生率此前尚未见报道。本文介绍的RTS系列病例显示，除系索综合征外，症状性Chiari I畸形的发生率也很高。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Pediatric Neurosurgery 医学-临床神经学

CiteScore

1.30

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Articles in ''Pediatric Neurosurgery'' strives to publish new information and observations in pediatric neurosurgery and the allied fields of neurology, neuroradiology and neuropathology as they relate to the etiology of neurologic diseases and the operative care of affected patients. In addition to experimental and clinical studies, the journal presents critical reviews which provide the reader with an update on selected topics as well as case histories and reports on advances in methodology and technique. This thought-provoking focus encourages dissemination of information from neurosurgeons and neuroscientists around the world that will be of interest to clinicians and researchers concerned with pediatric, congenital, and developmental diseases of the nervous system.