• 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

相似文献

1
Deep brain stimulation in a young child with mutation - Feasible and helpful.对一名患有突变的幼儿进行深部脑刺激——可行且有益。
Surg Neurol Int. 2022 Jul 1;13:285. doi: 10.25259/SNI_166_2022. eCollection 2022.
2
Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia.深部脑刺激对 GNAO1 相关严重运动过度的儿科患者有效。
J Neurol Sci. 2018 Aug 15;391:31-39. doi: 10.1016/j.jns.2018.05.018. Epub 2018 May 22.
3
Dyskinetic crisis in -related disorders: clinical perspectives and management strategies.运动障碍相关疾病中的运动障碍危象:临床观点与管理策略。
Front Neurol. 2024 Jun 6;15:1403815. doi: 10.3389/fneur.2024.1403815. eCollection 2024.
4
Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis.GNAO1 脑病的运动障碍谱:深入表型分析和逐个病例分析。
Orphanet J Rare Dis. 2020 Dec 9;15(1):343. doi: 10.1186/s13023-020-01594-3.
5
Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation.甲基丙二酸血症和 GNAO1 突变患儿局灶性肌张力障碍的丘脑底核和苍白球深部脑刺激的长期疗效。
J Neural Transm (Vienna). 2019 Jun;126(6):739-757. doi: 10.1007/s00702-019-02010-2. Epub 2019 May 10.
6
Bilateral globus pallidus internus deep brain stimulation for dyskinetic cerebral palsy supports success of cochlear implantation in a 5-year old ex-24 week preterm twin with absent cerebellar hemispheres.双侧苍白球内侧部脑深部电刺激治疗运动障碍型脑瘫,助力一名 5 岁、孕 24 周早产且小脑半球缺如的双胞胎之一成功接受人工耳蜗植入。
Eur J Paediatr Neurol. 2017 Jan;21(1):202-213. doi: 10.1016/j.ejpn.2016.11.017. Epub 2016 Dec 10.
7
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments.GNAO1 相关运动障碍:表型、临床病程和治疗反应的最新进展。
Parkinsonism Relat Disord. 2023 Jun;111:105405. doi: 10.1016/j.parkreldis.2023.105405. Epub 2023 Apr 29.
8
GNAO1 Mutation-Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation.苍白球深部脑刺激术对GNAO1突变诱发的小儿肌张力障碍风暴的救治
J Child Neurol. 2018 May;33(6):413-416. doi: 10.1177/0883073818756134.
9
Treating mutation-related severe movement disorders with oxcarbazepine: a case report.用奥卡西平治疗与突变相关的严重运动障碍:一例报告。
Transl Pediatr. 2022 Sep;11(9):1577-1587. doi: 10.21037/tp-22-297.
10
Results of the First GNAO1-Related Neurodevelopmental Disorders Caregiver Survey.GNAO1 相关神经发育障碍患者首次照护者调查结果。
Pediatr Neurol. 2021 Aug;121:28-32. doi: 10.1016/j.pediatrneurol.2021.05.005. Epub 2021 May 12.

引用本文的文献

1
Dyskinetic crisis in -related disorders: clinical perspectives and management strategies.运动障碍相关疾病中的运动障碍危象:临床观点与管理策略。
Front Neurol. 2024 Jun 6;15:1403815. doi: 10.3389/fneur.2024.1403815. eCollection 2024.

本文引用的文献

1
Brittle Biballism-Dystonia in a Pediatric Patient with GNAO1 Mutation Managed Using Pallidal Deep Brain Stimulation.一名患有GNAO1突变的儿科患者的脆性双相障碍-肌张力障碍,采用苍白球深部脑刺激治疗。
Mov Disord Clin Pract. 2021 Jan 4;8(1):153-155. doi: 10.1002/mdc3.13118. eCollection 2021 Jan.
2
Neuroimaging evaluation and successful treatment by using directional deep brain stimulation and levodopa in a patient with GNAO1-associated movement disorder: A case report.一名患有GNAO1相关运动障碍患者的神经影像学评估以及使用定向深部脑刺激和左旋多巴的成功治疗:病例报告
J Neurol Sci. 2020 Apr 15;411:116710. doi: 10.1016/j.jns.2020.116710. Epub 2020 Jan 31.
3
Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation.甲基丙二酸血症和 GNAO1 突变患儿局灶性肌张力障碍的丘脑底核和苍白球深部脑刺激的长期疗效。
J Neural Transm (Vienna). 2019 Jun;126(6):739-757. doi: 10.1007/s00702-019-02010-2. Epub 2019 May 10.
4
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.与 GNAO1 鸟苷三磷酸结合区相关的神经发育疾病谱。
Epilepsia. 2019 Mar;60(3):406-418. doi: 10.1111/epi.14653. Epub 2019 Jan 25.
5
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review.GNAO1 变异体运动障碍的现象学和临床病程:分析综述结果。
Parkinsonism Relat Disord. 2019 Apr;61:19-25. doi: 10.1016/j.parkreldis.2018.11.019. Epub 2018 Nov 16.
6
Deep brain stimulation for pediatric dystonia: a meta-analysis with individual participant data.儿童肌张力障碍的脑深部电刺激:一项荟萃分析与个体参与者数据。
Dev Med Child Neurol. 2019 Jan;61(1):49-56. doi: 10.1111/dmcn.14063. Epub 2018 Oct 15.
7
Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia.深部脑刺激对 GNAO1 相关严重运动过度的儿科患者有效。
J Neurol Sci. 2018 Aug 15;391:31-39. doi: 10.1016/j.jns.2018.05.018. Epub 2018 May 22.
8
A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features.一名患有GNAO1突变的患者,具有自发运动减少、肌张力减退和肌张力障碍特征。
Brain Dev. 2018 Nov;40(10):926-930. doi: 10.1016/j.braindev.2018.06.005. Epub 2018 Jun 21.
9
A mechanistic review on GNAO1-associated movement disorder.GNAO1 相关运动障碍的机制综述。
Neurobiol Dis. 2018 Aug;116:131-141. doi: 10.1016/j.nbd.2018.05.005. Epub 2018 May 24.
10
GNAO1 Mutation-Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation.苍白球深部脑刺激术对GNAO1突变诱发的小儿肌张力障碍风暴的救治
J Child Neurol. 2018 May;33(6):413-416. doi: 10.1177/0883073818756134.

对一名患有突变的幼儿进行深部脑刺激——可行且有益。

Deep brain stimulation in a young child with mutation - Feasible and helpful.

作者信息

Fung Eva Lai-Wah, Mo Chung-Yin, Fung Sharon Tsui-Hang, Chan Anne Yin-Yan, Lau Ka-Yee, Chan Emily Kit-Ying, Chan David Yuen-Chung, Zhu Xian-Lun, Chan Danny Tat-Ming, Poon Wai-Sang

机构信息

Department of Paediatrics, The Chinese University of Hong Kong, Hong Kong.

Department of Paediatrics, Kwong Wah Hospital, Hong Kong.

出版信息

Surg Neurol Int. 2022 Jul 1;13:285. doi: 10.25259/SNI_166_2022. eCollection 2022.

DOI:10.25259/SNI_166_2022
PMID:35855141
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9282786/
Abstract

BACKGROUND

is an emerging disorder characterized with hypotonia, developmental delay, epilepsy, and movement disorder, which can be potentially life threatening during acute exacerbation. In the USA, deep brain stimulation (DBS) has been licensed for treating children with chronic, treatment-resistant primary dystonia, who are 7 years old or older.

CASE DESCRIPTION

A 4-year-old girl diagnosed to have related dyskinesia and severe global developmental delay. She had severe dyskinesia precipitated by intercurrent infection, requiring prolonged intensive care for heavy sedation and related complications. Her dyskinesia improved dramatically after DBS implantation. Technical difficulties and precautions of DBS in preschool children were discussed.

CONCLUSION

DBS should be considered early in the treatment of drug-resistant movement disorders in young children with , especially after dyskinetic crisis, as they tend to recur. Presurgical counseling to parents and close monitoring of complications is also important in the process.

摘要

背景

是一种新兴的疾病,其特征为肌张力减退、发育迟缓、癫痫和运动障碍,在急性加重期可能危及生命。在美国,深部脑刺激(DBS)已被批准用于治疗7岁及以上患有慢性、难治性原发性肌张力障碍的儿童。

病例描述

一名4岁女孩被诊断患有相关运动障碍和严重的全面发育迟缓。她因并发感染而出现严重运动障碍,需要长时间重症监护以进行深度镇静及处理相关并发症。在植入DBS后,她的运动障碍得到显著改善。讨论了DBS在学龄前儿童中的技术难点及注意事项。

结论

对于患有运动障碍的幼儿,尤其是在运动障碍危象后,由于症状易复发,应在治疗耐药性运动障碍时尽早考虑DBS。在此过程中,对家长进行术前咨询以及密切监测并发症也很重要。