• 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

儿童小脑萎缩的鉴别诊断

Differential diagnosis of cerebellar atrophy in childhood.

作者信息

Poretti Andrea, Wolf Nicole I, Boltshauser Eugen

机构信息

Department of Paediatric Neurology, University Children's Hospital of Zurich, Steinwiesstrasse 75, CH-8032 Zurich, Switzerland.

出版信息

Eur J Paediatr Neurol. 2008 May;12(3):155-67. doi: 10.1016/j.ejpn.2007.07.010. Epub 2007 Sep 14.

DOI:10.1016/j.ejpn.2007.07.010
PMID:17869142
Abstract

Starting from the imaging appearance of cerebellar atrophy (CA) we provide checklists for various groups of CA: hereditary CA, postnatally acquired CA, and unilateral CA. We also include a list of disorders with ataxia as symptom, but no evidence of CA on imaging. These checklists may be helpful in the evaluation of differential diagnosis and planning of additional investigations. However, the complete constellation of clinical (including history and neurological examination), imaging, and other information have to be considered. On the basis of a single study distinction between prenatal onset atrophy, postnatal onset atrophy, and cerebellar hypoplasia is not always possible. Apart from rare exceptions, neuroimaging findings of CA are nonspecific. A pattern-recognition approach is suggested, considering isolated (pure) CA, CA and hypomyelination, CA and progressive white matter abnormalities, CA and basal ganglia involvement, and cerebellar cortex hyperintensity.

摘要

从小脑萎缩(CA)的影像学表现出发,我们为不同类型的CA提供了检查清单:遗传性CA、出生后获得性CA和单侧CA。我们还列出了以共济失调为症状但影像学上无CA证据的疾病清单。这些检查清单可能有助于鉴别诊断评估和额外检查的规划。然而,必须综合考虑完整的临床(包括病史和神经学检查)、影像学及其他信息。基于单一研究,并不总是能够区分产前起病的萎缩、产后起病的萎缩和小脑发育不全。除了罕见的例外情况,CA的神经影像学表现是非特异性的。建议采用模式识别方法,考虑孤立性(单纯性)CA、CA与髓鞘形成低下、CA与进行性白质异常、CA与基底节受累以及小脑皮质高信号。

相似文献

1
Differential diagnosis of cerebellar atrophy in childhood.儿童小脑萎缩的鉴别诊断
Eur J Paediatr Neurol. 2008 May;12(3):155-67. doi: 10.1016/j.ejpn.2007.07.010. Epub 2007 Sep 14.
2
Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update.儿童小脑萎缩的鉴别诊断:最新进展
Neuropediatrics. 2015 Dec;46(6):359-70. doi: 10.1055/s-0035-1564620. Epub 2015 Oct 7.
3
Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology.基底神经节和小脑髓鞘形成不良伴萎缩:随访与病理
Neurology. 2007 Jul 10;69(2):166-71. doi: 10.1212/01.wnl.0000265592.74483.a6.
4
Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum.弥漫性脑白质脱髓鞘伴小脑萎缩和胼胝体发育不全。
Brain Dev. 2009 Sep;31(8):582-7. doi: 10.1016/j.braindev.2008.09.003. Epub 2008 Oct 11.
5
Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1?婴儿期起病的进行性小脑萎缩和前角细胞变性——PCH-1的一种迟发型变体?
Eur J Paediatr Neurol. 2008 Mar;12(2):97-101. doi: 10.1016/j.ejpn.2007.06.005. Epub 2007 Jul 30.
6
Patterns of fractional anisotropy changes in white matter of cerebellar peduncles distinguish spinocerebellar ataxia-1 from multiple system atrophy and other ataxia syndromes.小脑脚白质各向异性分数变化模式可将脊髓小脑共济失调1型与多系统萎缩及其他共济失调综合征区分开来。
Neuroimage. 2009 Aug;47 Suppl 2:T72-81. doi: 10.1016/j.neuroimage.2009.05.013. Epub 2009 May 14.
7
Early-onset neurodegenerative disease of the cerebellum and motor axons.
Pediatr Neurol. 2009 May;40(5):365-70. doi: 10.1016/j.pediatrneurol.2008.11.020.
8
Progressive white-matter disease with primary cerebellar involvement: a separate entity?以原发性小脑受累为主的进行性白质病:一种独立的疾病实体?
Neuroradiology. 2002 Sep;44(9):775-9. doi: 10.1007/s00234-002-0842-7. Epub 2002 Aug 13.
9
Cerebellar involvement in metabolic disorders: a pattern-recognition approach.小脑与代谢紊乱的关系:一种模式识别方法。
Neuroradiology. 1998 Jun;40(6):347-54. doi: 10.1007/s002340050597.
10
[At the crossroads between developmental and degenerative diseases: the cerebellar disorders of early infancy. Classification and practical approach].
Rev Neurol (Paris). 2003 Apr;159(4):382-94.

引用本文的文献

1
LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy.涉及LSM复合体功能关键氨基酸的LSM7变体导致一种伴有脑白质营养不良和小脑萎缩的神经发育障碍。
HGG Adv. 2025 Jan 9;6(1):100372. doi: 10.1016/j.xhgg.2024.100372. Epub 2024 Oct 16.
2
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.早发性小脑萎缩表型的遗传异质性。
Int J Mol Sci. 2023 Nov 16;24(22):16400. doi: 10.3390/ijms242216400.
3
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose -Related Disorders.
小脑上脚萎缩:有助于诊断相关疾病的影像学线索。
Int J Mol Sci. 2022 Jun 16;23(12):6723. doi: 10.3390/ijms23126723.
4
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.离子通道病是与小脑萎缩相关的遗传性共济失调的常见病因。
Mov Disord Clin Pract. 2020 Sep 29;7(8):940-949. doi: 10.1002/mdc3.13086. eCollection 2020 Nov.
5
Inherited Metabolic Disorders Presenting with Ataxia.遗传性代谢障碍性共济失调
Int J Mol Sci. 2020 Aug 1;21(15):5519. doi: 10.3390/ijms21155519.
6
Neuroradiological findings in three cases of pontocerebellar hypoplasia type 9 due to mutation: typical MRI appearances and pearls for differential diagnosis.3例因突变导致的9型脑桥小脑发育不全的神经放射学表现:典型MRI表现及鉴别诊断要点
Quant Imaging Med Surg. 2019 Dec;9(12):1966-1972. doi: 10.21037/qims.2019.08.12.
7
Clinical Heterogeneity in Cerebral Hemiatrophy Syndromes.大脑半球萎缩综合征的临床异质性
Mov Disord Clin Pract. 2016 Jan 18;3(4):382-388. doi: 10.1002/mdc3.12301. eCollection 2016 Jul-Aug.
8
Descriptive epidemiology of cerebellar hypoplasia in the National Birth Defects Prevention Study.小脑发育不全的描述性流行病学研究。
Birth Defects Res. 2018 Nov 15;110(19):1419-1432. doi: 10.1002/bdr2.1388. Epub 2018 Sep 19.
9
A Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy.一种轻度形式的COG5缺陷,表现为儿童期早期发病的类似弗里德赖希共济失调的表型,伴有孤立性小脑萎缩。
J Korean Med Sci. 2017 Nov;32(11):1885-1890. doi: 10.3346/jkms.2017.32.11.1885.
10
Can Latent Class Analysis Be Used to Improve the Diagnostic Process in Pediatric Patients with Chronic Ataxia?潜在类别分析能否用于改善慢性共济失调儿科患者的诊断过程?
Cerebellum. 2017 Apr;16(2):348-357. doi: 10.1007/s12311-016-0810-0.