• 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
Ptosis, Visual Blurring, and Multiple Cranial Nerve Tumors: Do We Know the Culprit.上睑下垂、视力模糊与多发性颅神经肿瘤：我们找到病因了吗？
Indian J Otolaryngol Head Neck Surg. 2022 Dec;74(Suppl 3):5361-5363. doi: 10.1007/s12070-021-02599-5. Epub 2021 May 5.
2
Neurofibromatosis type 2: a case of ptosis.2型神经纤维瘤病：一例上睑下垂病例。
Graefes Arch Clin Exp Ophthalmol. 2007 Sep;245(9):1393-6. doi: 10.1007/s00417-006-0398-z. Epub 2007 Mar 9.
3
Pediatric intracranial lower cranial nerve schwannoma unassociated with neurofibromatosis type 2: case report and review of the literature.小儿颅内非2型神经纤维瘤病相关的低位颅神经鞘瘤：病例报告及文献复习
Childs Nerv Syst. 2019 Jun;35(6):1041-1044. doi: 10.1007/s00381-018-04045-4. Epub 2019 Jan 13.
4
Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors.神经纤维瘤病2相关皮肤肿瘤中NF2基因的突变与等位基因缺失
J Invest Dermatol. 2000 May;114(5):1017-21. doi: 10.1046/j.1523-1747.2000.00975.x.
5
Neurofibromatosis 2 in the pediatric age group.儿童期的神经纤维瘤病2型
Neurosurgery. 1993 Jul;33(1):92-6. doi: 10.1227/00006123-199307000-00014.
6
Neurofibromatosis type 2 patient presenting with medulloblastoma.2型神经纤维瘤病患者合并髓母细胞瘤。
Surg Neurol Int. 2015 Oct 7;6(Suppl 17):S440-3. doi: 10.4103/2152-7806.166771. eCollection 2015.
7
Neurofibromatosis type 2 in an infant with multiple plexiform schwannomas as first symptom.以多发丛状神经鞘瘤为首发症状的婴儿2型神经纤维瘤病。
J Dermatol. 2007 Jan;34(1):60-4. doi: 10.1111/j.1346-8138.2007.00218.x.
8
Multiple unilateral schwannomas: segmental neurofibromatosis type 2 or schwannomatosis?多发性单侧神经鞘瘤：2型节段性神经纤维瘤病还是神经鞘瘤病？
Br J Dermatol. 2003 Apr;148(4):804-9. doi: 10.1046/j.1365-2133.2003.05249.x.
9
Pediatric cerebellopontine angle and internal auditory canal tumors: clinical article.小儿桥小脑角及内耳道肿瘤：临床文章
J Neurosurg Pediatr. 2013 Oct;12(4):317-24. doi: 10.3171/2013.6.PEDS1383. Epub 2013 Aug 2.
10
Unilateral vestibular schwannoma with other neurofibromatosis type 2-related tumors: clinical and molecular study of a unique phenotype.伴有其他2型神经纤维瘤病相关肿瘤的单侧前庭神经鞘瘤：一种独特表型的临床和分子研究
J Neurosurg. 2006 Feb;104(2):201-7. doi: 10.3171/jns.2006.104.2.201.

本文引用的文献

1
Conventional Teaching: Classical Clues.传统教学：经典线索。
Indian J Pediatr. 2021 Feb;88(2):196-197. doi: 10.1007/s12098-020-03204-3. Epub 2020 Feb 18.
2
Tuberous sclerosis and cutaneous stigmata: ever-expanding spectrum.结节性硬化症与皮肤体征：不断扩展的谱系
Arch Dis Child. 2020 Aug;105(8):797. doi: 10.1136/archdischild-2019-317218. Epub 2019 May 9.
3
Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing.利用 2777 名经分子检测个体的数据库，确定神经纤维瘤病 2 现行诊断标准的缺陷。
Genet Med. 2019 Jul;21(7):1525-1533. doi: 10.1038/s41436-018-0384-y. Epub 2018 Dec 7.
4
Neurofibromatosis Type 2.2型神经纤维瘤病
J Child Neurol. 2017 Jan;32(1):9-22. doi: 10.1177/0883073816666736. Epub 2016 Sep 29.
5
Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?对于明显孤立性前庭神经鞘瘤患者，是否应该进行NF2基因突变筛查？
Clin Genet. 2007 Apr;71(4):354-8. doi: 10.1111/j.1399-0004.2007.00778.x.
6
Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients.儿童2型神经纤维瘤病（NF2）的最早临床表现及自然病史：一项针对24例患者的研究
Neuropediatrics. 2005 Feb;36(1):21-34. doi: 10.1055/s-2005-837581.
7
Multiple meningiomas: differential involvement of the NF2 gene in children and adults.多发性脑膜瘤：NF2基因在儿童和成人中的不同受累情况
J Med Genet. 2005 Jan;42(1):45-8. doi: 10.1136/jmg.2004.023705.
8
Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma.单侧前庭神经鞘瘤患者双侧患病的概率。
J Neurol Neurosurg Psychiatry. 1999 Jun;66(6):764-7. doi: 10.1136/jnnp.66.6.764.
9
Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22.双侧听神经纤维瘤病与22号染色体上一个DNA标记的遗传连锁。
Nature. 1987;329(6136):246-8. doi: 10.1038/329246a0.
10
A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.英国2型神经纤维瘤病的遗传学研究。I. 患病率、突变率、适合度以及母系遗传对严重程度影响的确认。
J Med Genet. 1992 Dec;29(12):841-6. doi: 10.1136/jmg.29.12.841.

上睑下垂、视力模糊与多发性颅神经肿瘤：我们找到病因了吗？

Ptosis, Visual Blurring, and Multiple Cranial Nerve Tumors: Do We Know the Culprit.

作者信息

Singanamalla Bhanudeep, Vyas Sameer, Madaan Priyanka, Saini Lokesh

机构信息

Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre, PGIMER, Chandigarh, 160012 India.

Department of Radiodiagnosis and Imaging, PGIMER, Chandigarh, India.

出版信息

Indian J Otolaryngol Head Neck Surg. 2022 Dec;74(Suppl 3):5361-5363. doi: 10.1007/s12070-021-02599-5. Epub 2021 May 5.

DOI:10.1007/s12070-021-02599-5
PMID:36742908
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9895628/
Abstract

Neurofibromatosis type 2 (NF2) is a monogenic condition caused by mutations in the gene. Examination of skin and eyes and parental screening play a key role in the diagnosis of pediatric NF2. We report a four-year-old boy, who presented sub-acutely with unilateral vision loss, ptosis and exotropia with a positive family history of NF2.

摘要

2型神经纤维瘤病（NF2）是一种由该基因突变引起的单基因疾病。皮肤和眼睛检查以及对父母的筛查在儿童NF2的诊断中起着关键作用。我们报告一名4岁男孩，他亚急性出现单侧视力丧失、上睑下垂和外斜视，且有NF2家族史阳性。