• 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

模仿脑瘫的代谢和遗传疾病。

Metabolic and genetic disorders mimicking cerebral palsy.

作者信息

Hakami Wejdan S, Hundallah Khaled J, Tabarki Brahim M

机构信息

Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia.

出版信息

Neurosciences (Riyadh). 2019 Jul;24(3):155-163. doi: 10.17712/nsj.2019.3.20190045.

DOI:10.17712/nsj.2019.3.20190045
PMID:31380813
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8015517/
Abstract

Cerebral palsy is a syndrome that encompasses a large group of childhood movement and posture disorders that result from a lesion occurring in the developing brain. The clinical presentation of many metabolic and genetic conditions, particularly in highly consanguineous populations, can mimic cerebral palsy particularly at early age. The aim of this review article is to identify the clinical features that should alert the physician to the possibility of disorders that resemble cerebral palsy, the clinical and neuroimaging red flags, and highlight some metabolic and genetic conditions which may present with spasticity, ataxia and dyskinesia. In the case of metabolic or genetic disorder, making a precise diagnosis is particularly important for the possibility of treatment, accurate prognosis and genetic counseling.

摘要

脑瘫是一种综合征,它包含一大类儿童期运动和姿势障碍,这些障碍是由发育中的大脑发生病变引起的。许多代谢和遗传疾病的临床表现,尤其是在近亲结婚的人群中,可能会模仿脑瘫,特别是在早期。这篇综述文章的目的是确定那些应提醒医生注意类似脑瘫疾病可能性的临床特征、临床和神经影像学警示信号,并强调一些可能表现为痉挛、共济失调和运动障碍的代谢和遗传疾病。对于代谢或遗传疾病,做出准确诊断对于治疗可能性、准确预后和遗传咨询尤为重要。

相似文献

1
Metabolic and genetic disorders mimicking cerebral palsy.模仿脑瘫的代谢和遗传疾病。
Neurosciences (Riyadh). 2019 Jul;24(3):155-163. doi: 10.17712/nsj.2019.3.20190045.
2
Genetic mimics of cerebral palsy.脑性瘫痪的遗传模拟物。
Mov Disord. 2019 May;34(5):625-636. doi: 10.1002/mds.27655. Epub 2019 Mar 26.
3
Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes.遗传性代谢病的临床和生化特征。五、脑瘫表型。
Mol Genet Metab. 2022 Dec;137(4):445-448. doi: 10.1016/j.ymgme.2021.03.008. Epub 2021 Mar 13.
4
A diagnostic approach for cerebral palsy in the genomic era.基因组时代脑瘫的诊断方法。
Neuromolecular Med. 2014 Dec;16(4):821-44. doi: 10.1007/s12017-014-8331-9. Epub 2014 Oct 4.
5
Genetic syndromes associated with cerebral palsy.与脑瘫相关的遗传综合征。
Clin Orthop Relat Res. 1974 Mar-Apr(99):2-11. doi: 10.1097/00003086-197403000-00001.
6
Practice parameter: diagnostic assessment of the child with cerebral palsy [RETIRED]: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.实践参数:脑瘫患儿的诊断评估[已退休]:美国神经病学学会质量标准小组委员会和儿童神经病学会实践委员会报告
Neurology. 2004 Mar 23;62(6):851-63. doi: 10.1212/01.wnl.0000117981.35364.1b.
7
Cerebral Palsy: An Overview.脑性瘫痪:概述。
Am Fam Physician. 2020 Feb 15;101(4):213-220.
8
Should children with cerebral palsy and normal imaging undergo testing for inherited metabolic disorders?脑瘫且影像正常的儿童是否应进行遗传性代谢疾病的检测?
Dev Med Child Neurol. 2011 Mar;53(3):226-32. doi: 10.1111/j.1469-8749.2010.03810.x.
9
NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.一个被诊断为共济失调性运动障碍型脑瘫的家族中的NKX2-1基因突变。
Eur J Med Genet. 2013 Sep;56(9):506-9. doi: 10.1016/j.ejmg.2013.07.003. Epub 2013 Jul 30.
10
Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy.遗传或其他病因不应改变脑瘫的临床诊断。
J Child Neurol. 2019 Jul;34(8):472-476. doi: 10.1177/0883073819840449. Epub 2019 Apr 9.

引用本文的文献

1
Unravelling genetic etiology of cerebral palsy: findings from a Slovenian pediatric cohort.揭示脑瘫的遗传病因:来自斯洛文尼亚儿科队列的研究结果。
Front Neurol. 2025 Jul 23;16:1615449. doi: 10.3389/fneur.2025.1615449. eCollection 2025.
2
Mimickers of hypoxic-ischaemic brain injury in term neonates: What the radiologist should know.足月儿缺氧缺血性脑损伤的模仿者:放射科医生应了解的内容。
SA J Radiol. 2024 Feb 29;28(1):2810. doi: 10.4102/sajr.v28i1.2810. eCollection 2024.
3
Saudi Cerebral Palsy Register (SCPR): Protocol on the Methods and Technical Details.

本文引用的文献

1
GLUT1 Deficiency in a Patient Diagnosed as Cerebral Palsy: Is NGS a Valuable Tool to Be Considered in All Cases of CP to Detect Underlying Genetic Disorders?一名被诊断为脑瘫的患者存在葡萄糖转运蛋白1缺乏症:对于所有脑瘫病例,二代测序(NGS)是否是一种可用于检测潜在遗传疾病的重要工具?
Mov Disord Clin Pract. 2019 Mar 28;6(4):277-279. doi: 10.1002/mdc3.12754. eCollection 2019 Apr.
2
Genetic mimics of cerebral palsy.脑性瘫痪的遗传模拟物。
Mov Disord. 2019 May;34(5):625-636. doi: 10.1002/mds.27655. Epub 2019 Mar 26.
3
The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center.
沙特脑瘫登记处(SCPR):方法与技术细节协议
J Epidemiol Glob Health. 2024 Jun;14(2):453-461. doi: 10.1007/s44197-024-00198-5. Epub 2024 Feb 15.
4
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature.患有嘧啶二羧酸酶缺乏症患者的诊断之旅:病例报告及文献复习。
Cold Spring Harb Mol Case Stud. 2024 Jan 10;9(4). doi: 10.1101/mcs.a006319. Print 2023 Dec.
5
Examining the neurodevelopmental and motor phenotypes of Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3).研究博林-奥皮茨综合征(ASXL1)和班布里奇-罗佩斯综合征(ASXL3)的神经发育和运动表型。
Front Neurosci. 2023 Nov 6;17:1244176. doi: 10.3389/fnins.2023.1244176. eCollection 2023.
6
-related neurodevelopmental disorder mimics cerebral palsy: case report.相关神经发育障碍酷似脑性瘫痪:病例报告
Front Pediatr. 2023 Jun 16;11:1201080. doi: 10.3389/fped.2023.1201080. eCollection 2023.
7
duplication syndrome initially misdiagnosed as cerebral palsy: a case report.先天性多发关节挛缩症初诊为脑瘫:1 例报告。
J Int Med Res. 2023 Mar;51(3):3000605231162452. doi: 10.1177/03000605231162452.
8
Computer-Aided Diagnosis of Children with Cerebral Palsy under Deep Learning Convolutional Neural Network Image Segmentation Model Combined with Three-Dimensional Cranial Magnetic Resonance Imaging.深度学习卷积神经网络图像分割模型联合三维头颅磁共振在小儿脑瘫中的计算机辅助诊断
J Healthc Eng. 2021 Nov 10;2021:1822776. doi: 10.1155/2021/1822776. eCollection 2021.
9
Multi-Organ Dysfunction in Cerebral Palsy.脑瘫中的多器官功能障碍
Front Pediatr. 2021 Aug 9;9:668544. doi: 10.3389/fped.2021.668544. eCollection 2021.
10
Treatable inherited metabolic epilepsies.可治疗的遗传性代谢性癫痫。
Neurosciences (Riyadh). 2021 Jul;26(3):229-235. doi: 10.17712/nsj.2021.3.20210077.
脑瘫模拟疾病的遗传病因学:来自希腊三级护理中心的结果。
Eur J Paediatr Neurol. 2019 May;23(3):427-437. doi: 10.1016/j.ejpn.2019.02.001. Epub 2019 Feb 14.
4
Distinct neuroimaging features of gene-related spastic paraplegia, a mimicker of cerebral palsy.基因相关性痉挛性截瘫的独特神经影像学特征,一种脑性瘫痪的模仿疾病。
Arch Dis Child. 2020 May;105(5):482. doi: 10.1136/archdischild-2018-316484. Epub 2019 Jan 31.
5
Atypical cerebral palsy: genomics analysis enables precision medicine.非典型性脑瘫:基因组学分析助力精准医疗。
Genet Med. 2019 Jul;21(7):1621-1628. doi: 10.1038/s41436-018-0376-y. Epub 2018 Dec 13.
6
Spinocerebellar ataxia: an update.脊髓小脑共济失调:更新。
J Neurol. 2019 Feb;266(2):533-544. doi: 10.1007/s00415-018-9076-4. Epub 2018 Oct 3.
7
Cockayne Syndrome Misdiagnosed as Cerebral Palsy.被误诊为脑瘫的科凯恩综合征
Iran J Child Neurol. 2018 Fall;12(4):162-168.
8
Worster-Drought Syndrome Associated With Mutations.与突变相关的沃斯特-德劳特综合征
Child Neurol Open. 2018 Aug 2;5:2329048X18791083. doi: 10.1177/2329048X18791083. eCollection 2018.
9
"Cerebral Palsy" in a Patient With Arginase Deficiency.精氨酸酶缺乏症患者中的“脑性瘫痪”
Semin Pediatr Neurol. 2018 Jul;26:110-114. doi: 10.1016/j.spen.2017.03.016. Epub 2017 Apr 1.
10
Genomic analysis identifies masqueraders of full-term cerebral palsy.基因组分析识别出足月脑瘫的伪装者。
Ann Clin Transl Neurol. 2018 Mar 26;5(5):538-551. doi: 10.1002/acn3.551. eCollection 2018 May.