塞鲁美替尼治疗儿童眼眶周围丛状神经纤维瘤的视力改善:病例报告和文献回顾。

IF 1.3 4区 医学 Q3 OPHTHALMOLOGY
Abdulrahman S Alhadlag, Hatim H Najmi, Faisal A Altahan, Fatimah A AlHammad
{"title":"塞鲁美替尼治疗儿童眼眶周围丛状神经纤维瘤的视力改善:病例报告和文献回顾。","authors":"Abdulrahman S Alhadlag, Hatim H Najmi, Faisal A Altahan, Fatimah A AlHammad","doi":"10.1097/IOP.0000000000003011","DOIUrl":null,"url":null,"abstract":"<p><p>We describe a case of a 4-year-old girl with neurofibromatosis type 1 and a large, inoperable periorbital plexiform neurofibroma involving the right trigeminal nerve treated with selumetinib, highlighting significant tumor reduction, visual improvement, and lightening of café-au-lait macules. The patient showed significant clinical and radiological improvements within 8 months of selumetinib therapy. Tumor volume decreased by approximately 70% with marked proptosis resolution and extraocular motility restoration. The visual acuity of the affected eye improved from 20/100 to 20/40, and the intraocular pressure was stabilized without surgical intervention. Adverse effects were mild and included transient elevations in creatine phosphokinase levels and mild hair loss, with no dose adjustment required. This case highlights selumetinib as a potential first-line treatment for inoperable periorbital plexiform neurofibromas in pediatric patients with neurofibromatosis type 1, achieving functional and visual improvements. Future studies should explore the long-term efficacy and safety of mitogen-activated protein kinase inhibitors in similar cases.</p>","PeriodicalId":19588,"journal":{"name":"Ophthalmic Plastic and Reconstructive Surgery","volume":" ","pages":""},"PeriodicalIF":1.3000,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Visual Improvement in a Child With Periorbital Plexiform Neurofibroma Treated With Selumetinib: Case Report and Literature Review.\",\"authors\":\"Abdulrahman S Alhadlag, Hatim H Najmi, Faisal A Altahan, Fatimah A AlHammad\",\"doi\":\"10.1097/IOP.0000000000003011\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>We describe a case of a 4-year-old girl with neurofibromatosis type 1 and a large, inoperable periorbital plexiform neurofibroma involving the right trigeminal nerve treated with selumetinib, highlighting significant tumor reduction, visual improvement, and lightening of café-au-lait macules. The patient showed significant clinical and radiological improvements within 8 months of selumetinib therapy. Tumor volume decreased by approximately 70% with marked proptosis resolution and extraocular motility restoration. The visual acuity of the affected eye improved from 20/100 to 20/40, and the intraocular pressure was stabilized without surgical intervention. Adverse effects were mild and included transient elevations in creatine phosphokinase levels and mild hair loss, with no dose adjustment required. This case highlights selumetinib as a potential first-line treatment for inoperable periorbital plexiform neurofibromas in pediatric patients with neurofibromatosis type 1, achieving functional and visual improvements. Future studies should explore the long-term efficacy and safety of mitogen-activated protein kinase inhibitors in similar cases.</p>\",\"PeriodicalId\":19588,\"journal\":{\"name\":\"Ophthalmic Plastic and Reconstructive Surgery\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2025-08-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Ophthalmic Plastic and Reconstructive Surgery\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/IOP.0000000000003011\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ophthalmic Plastic and Reconstructive Surgery","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/IOP.0000000000003011","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
引用次数: 0

摘要

我们描述了一个4岁的女孩,患有1型神经纤维瘤病和一个大的,不可手术的眼眶周围丛状神经纤维瘤,包括右三叉神经,用塞鲁美替尼治疗,突出了显著的肿瘤缩小,视力改善,和卡萨梅拉西斑疹减轻。患者在接受塞鲁美替尼治疗的8个月内表现出明显的临床和放射学改善。肿瘤体积缩小约70%,并伴有明显的突起消退和眼外运动恢复。术后患眼视力由20/100改善至20/40,眼压稳定。不良反应是轻微的,包括肌酸磷酸激酶水平的短暂升高和轻度脱发,不需要调整剂量。该病例强调了selumetinib作为1型神经纤维瘤患儿不能手术的眶周丛状神经纤维瘤的潜在一线治疗方法,可实现功能和视力改善。未来的研究应探讨丝裂原活化蛋白激酶抑制剂在类似病例中的长期疗效和安全性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Visual Improvement in a Child With Periorbital Plexiform Neurofibroma Treated With Selumetinib: Case Report and Literature Review.

We describe a case of a 4-year-old girl with neurofibromatosis type 1 and a large, inoperable periorbital plexiform neurofibroma involving the right trigeminal nerve treated with selumetinib, highlighting significant tumor reduction, visual improvement, and lightening of café-au-lait macules. The patient showed significant clinical and radiological improvements within 8 months of selumetinib therapy. Tumor volume decreased by approximately 70% with marked proptosis resolution and extraocular motility restoration. The visual acuity of the affected eye improved from 20/100 to 20/40, and the intraocular pressure was stabilized without surgical intervention. Adverse effects were mild and included transient elevations in creatine phosphokinase levels and mild hair loss, with no dose adjustment required. This case highlights selumetinib as a potential first-line treatment for inoperable periorbital plexiform neurofibromas in pediatric patients with neurofibromatosis type 1, achieving functional and visual improvements. Future studies should explore the long-term efficacy and safety of mitogen-activated protein kinase inhibitors in similar cases.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
2.50
自引率
10.00%
发文量
322
审稿时长
3-8 weeks
期刊介绍: Ophthalmic Plastic and Reconstructive Surgery features original articles and reviews on topics such as ptosis, eyelid reconstruction, orbital diagnosis and surgery, lacrimal problems, and eyelid malposition. Update reports on diagnostic techniques, surgical equipment and instrumentation, and medical therapies are included, as well as detailed analyses of recent research findings and their clinical applications.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信