• 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

1型神经纤维瘤病合并1A型遗传性运动感觉神经病。

Neurofibromatosis type 1 associated with Charcot-Marie-Tooth type 1A.

作者信息

Koc Filiz, Guzel A Irfan

机构信息

Department of Neurology, Cukurova University School of Medicine, Mithat Ozsan Street, Adana 01330, Turkey.

出版信息

J Dermatol. 2009 May;36(5):306-11. doi: 10.1111/j.1346-8138.2009.00644.x.

DOI:10.1111/j.1346-8138.2009.00644.x
PMID:19383003
Abstract

Neurofibromatosis and Charcot-Marie-Tooth are genetic disorders of the nervous system affecting the development and growth of nerve cells and demyelination of peripheral neurons, respectively. We report a 22-year-old man who presented clinical manifestations of both neurofibromatosis type 1 (NF1) and Charcot-Marie-Tooth type 1A. The simultaneous occurrence of neurofibromatosis and Charcot-Marie-Tooth disease has rarely been reported. More extensive reports and further investigations of this combination will certainly provide a better understanding of this linkage in the near future.

摘要

神经纤维瘤病和夏科-马里-图斯病是神经系统的遗传性疾病,分别影响神经细胞的发育和生长以及周围神经元的脱髓鞘。我们报告了一名22岁男性,他同时出现了1型神经纤维瘤病(NF1)和1A型夏科-马里-图斯病的临床表现。神经纤维瘤病和夏科-马里-图斯病同时发生的情况鲜有报道。对这种组合进行更广泛的报告和进一步研究,肯定会在不久的将来让我们对这种联系有更好的理解。

相似文献

1
Neurofibromatosis type 1 associated with Charcot-Marie-Tooth type 1A.1型神经纤维瘤病合并1A型遗传性运动感觉神经病。
J Dermatol. 2009 May;36(5):306-11. doi: 10.1111/j.1346-8138.2009.00644.x.
2
Neurofibromatosis, Charcot-Marie-Tooth disease, or both?神经纤维瘤病、夏科-马里-图斯病,还是两者皆有?
Neurofibromatosis. 1989;2(4):238-43.
3
A large family with Charcot-Marie-Tooth Type 1a and Type 2 diabetes mellitus.一个患有1A型遗传性运动感觉神经病和2型糖尿病的大家庭。
Int J Neurosci. 2006 Feb;116(2):103-14. doi: 10.1080/00207450500341431.
4
Neurofibromatosis type 1 association with moyamoya disease.1型神经纤维瘤病与烟雾病的关联
Int J Neurosci. 2008 Aug;118(8):1157-63. doi: 10.1080/00207450801898279.
5
A patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B.1 型神经纤维瘤病合并 1B 型腓骨肌萎缩症患者。
Muscle Nerve. 2010 Apr;41(4):555-8. doi: 10.1002/mus.21546.
6
Anesthetic management of a parturient with neurofibromatosis 1 and Charcot-Marie-Tooth disease.1型神经纤维瘤病合并夏科-马里-图思病产妇的麻醉管理
J Clin Anesth. 2007 Aug;19(5):405-6. doi: 10.1016/j.jclinane.2007.03.001.
7
Factors associated with foot and ankle strength in healthy preschool-age children and age-matched cases of Charcot-Marie-Tooth disease type 1A.健康学龄前儿童及年龄匹配的1A型遗传性运动感觉神经病病例中与足踝力量相关的因素。
J Child Neurol. 2010 Apr;25(4):463-8. doi: 10.1177/0883073809340698. Epub 2009 Aug 11.
8
Charcot-Marie-Tooth type 1a in a child with Long QT syndrome.一名患有长QT综合征的儿童患1A型夏科-马里-图思病。
Eur J Paediatr Neurol. 2009 Sep;13(5):459-62. doi: 10.1016/j.ejpn.2008.07.011. Epub 2008 Sep 16.
9
Central nervous system signs in X-linked Charcot-Marie-Tooth disease after hyperventilation.通气过度后X连锁型夏科-马里-图思病的中枢神经系统体征
Pediatr Neurol. 2008 Apr;38(4):293-5. doi: 10.1016/j.pediatrneurol.2007.12.003.
10
Modafinil reduces fatigue in Charcot-Marie-Tooth disease type 1A: a case series.莫达非尼可减轻1A型遗传性运动感觉神经病的疲劳:病例系列报道
Am J Hosp Palliat Care. 2006 Oct-Nov;23(5):412-6. doi: 10.1177/1049909106292169.

引用本文的文献

1
Nerve Enlargement in Patients with INF2 Variants Causing Peripheral Neuropathy and Focal Segmental Glomerulosclerosis.携带导致周围神经病变和局灶节段性肾小球硬化的INF2变异体患者的神经肿大
Biomedicines. 2025 Jan 8;13(1):127. doi: 10.3390/biomedicines13010127.
2
Severe Phenotype in Patients with Large Deletions of ..大片段缺失患者的严重表型
Cancers (Basel). 2021 Jun 13;13(12):2963. doi: 10.3390/cancers13122963.
3
Charcot-Marie-Tooth syndrome and neurofibromatosis type 1 with multiple neurofibromas of the entire spinal nerve roots.
夏科-马里-图思综合征及1型神经纤维瘤病伴全脊髓神经根多发神经纤维瘤
BMJ Case Rep. 2013 Jul 13;2013:bcr2013010078. doi: 10.1136/bcr-2013-010078.