切换至 "中华医学电子期刊资源库"

中华眼科医学杂志(电子版) ›› 2026, Vol. 16 ›› Issue (01) : 34 -37. doi: 10.3877/cma.j.issn.2095-2007.2026.01.006

病例报告

误诊为"麦粒肿"的眼部Ⅰ型神经纤维瘤1例
李婷1, 王玉娟2, 王琴3, 李坤1, 马建民4, 王越4,()   
  1. 1061001 河北省沧州市中心医院眼科医学中心
    2657099 昭通市中医医院眼科
    3046000 长治市人民医院眼科
    410073首都医科大学附属北京同仁医院 北京同仁眼科中心 眼科学与视觉科学北京市重点实验室
  • 收稿日期:2026-01-08 出版日期:2026-02-28
  • 通信作者: 王越
  • 基金资助:
    北京市医院管理中心"登峰"计划专项经费资助项目(DFL20190201)

One case of ocular type Ⅰ neurofibroma misdiagnosed as "granuloma"

Ting Li, Yujuan Wang, Qin Wang   

  • Received:2026-01-08 Published:2026-02-28
引用本文:

李婷, 王玉娟, 王琴, 李坤, 马建民, 王越. 误诊为"麦粒肿"的眼部Ⅰ型神经纤维瘤1例[J/OL]. 中华眼科医学杂志(电子版), 2026, 16(01): 34-37.

Ting Li, Yujuan Wang, Qin Wang. One case of ocular type Ⅰ neurofibroma misdiagnosed as "granuloma"[J/OL]. Chinese Journal of Ophthalmologic Medicine(Electronic Edition), 2026, 16(01): 34-37.

图1 患者术前右眼外观彩色照相  图2 近红外眼底照相显示脉络膜多发强反射病灶呈多发明亮斑片状结节样改变  图3 患者背部咖啡斑彩色照相  图4 患者术中彩色照相可见睑板组织结构不清,呈白色鱼肉样肉芽组织改变  图5 患者术后3个月外观彩色照相
[1]
Armstrong AE, Belzberg AJ, Crawford JR. Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1-related plexiform neurofibromas[J].BMC Cancer, 2023, 23(1): 553-559.
[2]
Demir U . Evaluation of Ocular Findings in Pediatric Patients With Neurofibromatosis Type 1[J].Child Neurol. 2025, 41(3): 396-402.
[3]
梁小芳. 神经纤维瘤病1型患者的眼部特征分析[J]. 眼科20235:421-424.
[4]
Tabata MM, Li S, Knight P, et al. Phenotypic heterogeneity of neurofibromatosis type 1 in a large international registry[J]. JCI Insight, 2020, 5(16): e136262-e136269.
[5]
中华医学会整形分会神经纤维瘤病学组. 丛状神经纤维瘤的全病程管理专家共识(2025版)[J].中华医学杂志.2025105(5):331-345.
[6]
Choi E, Lee J, Kim H. TGF-B superfamily-induced transcriptional activation pathways establish the RAD52-dependent ALT machinery during malignant transformation of MPNSTs[J]. Sci Rep, 2024, 14(1): 26475-264782.
[7]
Copley-Merriman C, Yang Xiaoqin. Natural History and Disease Burden of Neurofibromatosis Type 1 with Plexiform Neurofibromas: A Systematic Literature Review[J]. Adolesc Health Med Ther, 2021, 12: 55-66.
[8]
张雷.Ⅰ型神经纤维瘤病相关肿瘤的诊疗进展[J].中华神经外科疾病研究杂志202519(3):150-155.
[9]
Kotch C, Avery R, Getz KD. Risk factors for treatment re-fractory and relapsed opticpathwayglioma inchildrenwith neurofibro-matosis type 1[J].Neuro Oncol, 2022, 24(8): 1377-1386.
[10]
Mahdi J, Goyal MS, Griffith J. Nonoptic pathway tumors in children with neurofibromatosis type I[J].Neurology, 2020, 95(8): e1052-1059.
[11]
Jiramongkolchai P, Schwartz MS, Friedman RA. Management of neurofibromatosis type 2-associated vestibular schwannomas[J].Otolaryngol Clin N Am, 2023, 56: 533-541.
[12]
Li Qian, Liu Guiqin. Neurofibromatosis type 2 misdiagnosed as amblyopia-a case report and literature review[J].Front Med (Lausanne), 2025, 12: 1556494.
[13]
李倩. 首诊眼科的4例2型神经纤维瘤病眼部病变特征[J]. 眼科学报202540(8):595-600.
[14]
中华人民共和国国家卫生健康委员会. 神经纤维瘤病诊疗指南(2025版)[J].中国修复重建外科杂志202640(1):153-160.
[15]
Moualed D, Wong J, Thomas O. Prevalkence and natural historyof schwannomas in neurohbromatosis type2(NF2):the influence ofpathogenis variants[J]. Eur J Hum Gemet, 2022, 30(4): 458464.
[16]
Pranjal R, Girish B.Classification of schwannomas and the new naming convention for " neurofibromatosis-2" :Genetic updates and international consensus recommendation[J]. Neuroradiol J, 2025, 38(5): 533-542.
[17]
Legius E, Messiaen L, Wolkenstein P, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation[J].Genet Med, 2021, 23(8): 1506-1513.
[18]
中国罕见病联盟.Ⅰ型神经纤维瘤病多学科诊疗协作组.I型神经纤维瘤病多学科指南(2023版)[J]. 罕见病研究20232(2):210-230.
[19]
祝思涵. 儿童视路胶质瘤诊断、治疗和预后观察的研究进展[J]. 国际神经病学神经外科学杂志202047(2):196-199.
[20]
Abolhasan E, Sara H, Zohreh H. Optic pathway glio mas: clinical manifestation,treatment,and follow up[J]. Pediatr Neurosurg, 2016, 51(5): 223-228.
[21]
Gaonker CH, Mukherjee AK, Pokle M. Involvement of the eye and orbit in neurofibromatosis type 1[J]. Indian JOphthalmol, 1992, 40(1): 2-4.
[22]
Barnett C, Alon T, Abraham A. Evidence of smallfiber neuropathy in neurofibromatosis type 1[J]. Muscle Nerve, 2019, 60(6): 673-678.
[23]
Ghahvehchian H, Latifi G, Fard MA. Quantitative assessment of the corneal subbasal nerve plexus in children with neurofibromatosis type 1 and optic pathway glioma using in vivo confocal microscopy[J]. Sci Rep, 2025, 15: 42621.
[24]
Alabduljabbar M, Strianese D. The clinico pathologic profile of primary and recurrent orbital/periorbital plexiform neurofibromas (OPPN)[J]. PLoS One, 2021, 16(10): e0258802.
[25]
Avery RA, Katowitz JA, Fisher MJ, et al. Orbital periorbital plexiform neurofibromas in children with neurofibromatosis type 1:multidisciplinary recommendations for care[J]. Ophthalmology, 2017, 124(1): 123-132.
[26]
Chaudhry I, Morales J, Shamsi F, et al. Orbitofacial neurofibromatosis: clinical characteristics and treatment outcome[J]. Eye, 2012, 26(4): 583.
[27]
张裕琳. 眼眶神经纤维瘤病I型相关斜视1例[J]. 中国眼耳鼻喉杂志202525(S1):34-37.
[28]
孙莉. 34例儿童I型神经纤维瘤病的眼底表现及临床分析[J]. 中国斜视与小儿眼科杂志202533(1):52-52.
[29]
舒婉婷. 儿童Ⅰ型神经纤维瘤病伴角膜缘神经纤维瘤继发性青光眼1例[J]. 中国眼耳鼻喉科杂志202525(6):548-511.
[30]
Chaudhary K, Dubey S. Optic Nerve Glioma,Plexiform Neurofibroma, and Secondary Glaucoma in a Child With a Rare NF1Variant (p.Gln83Ter): A Case Report [J]. Cureus, 2025, 17(11): e95957.
[31]
Ahmadova N, Kayaba M. Multimodal Imaging Characteristics and Diagnostic Value of Choroidal Nodules in Patients with Neurofibromatosis Type 1[J]. Turk J Ophthalmol, 2024, 54(3): 140-148.
[32]
冯云. 神经纤维瘤病累及眼部临床表现[J]. 国际眼科纵览202448(2):156-161.
[33]
Mallone F, Alisi L, Lucchino L. Insights into novel cho roidal and retinal clinical signs in neurofibromatosis type 1[J]. Int J Mol Sci, 2023, 24(17): 13481.
[34]
Abdolrahimzadeh S, Felli L, Plateroti R. Morphologic and vasculature features of the choroid and associated choroid-retinal thickness alterations in neurofibromatosis type 1[J]. Br J Ophthalmol, 2015, 99(6): 789-793.
[35]
Vagge A, Camicione P, Capris C. Choroidal abnormalities in neurofibromatosis type 1 detected by near-infrared reflectance imaging in paediatric population[J/OL]. ActaOphthalmol, 2015, 93(8): e667-e671.
[36]
TouzéR, Abitbol MM, Bremond-Gignac D. Function of the Retinal Pigment Epithelium in Patients With Neurofibromatosis Type 1[J].Invest Ophthalmol Vis Sci, 2022, 63(4): 6.
[37]
Moramarco A, Mallone F, Sacchetti M, et al. Hyperpigmented spots at fundus examination: a new ocular sign in Neurofibromatosis Type 1[J]. Orphanet J Rare Dis, 2021, 16(1): 147.
[38]
Wang GM, Thuente D, Bohnsack BL. Angle closure glaucoma in congenital ectropion uvea[J]. Am J Ophthalmol Case Rep, 2018, 10: 215-220.
[39]
Edward DP, Morales J, Bouhenni RA. Congenital ectropion uvea and mechanisms of glaucoma in neurofibromatpsis type1:newinsights[J]. Ophthalmolmgy, 2012, 119(7): 1485-1494.
[40]
Touzé R, Abitbol MM, Bremond-Gignac D, et al. Retinal vascular abnormalities in children with neurofibromatosis type 1[J]. Retina, 2021, 41: 2589-2595.
[41]
Zeydanl ÖE.Neurofibromatosis Type 1 Vasculopathy Presenting as Branch Retinal Vein Occlusion: Case Report and Review of the Literature Turk[J].Ophthalmol, 2023, 53(6): 390-394.
[42]
Koger AM, Atesoglu H, Yilmaz A. Quantitative OCT angi ography of the retinal and choroidal vascular circulation in pediat ric patients with neurofibromatosis type 1[J]. Aapos, 2022, 26 (4) :189-189.
[43]
Somatilaka BN, Sadek A, McKay RM. Malignant Peripheral Nerve Sheath Tumor: Models, Biology, and Translation[J].Oncogene, 2022, 41(17): 2405-2421.
[44]
Armstrong AE, Belzberg AJ, Crawford JR, et al. Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1-related plexiform neurofibromas[J].BMC Cancer, 2023, 23(1): 553.
No related articles found!
阅读次数
全文


摘要


AI


AI小编
你好!我是《中华医学电子期刊资源库》AI小编,有什么可以帮您的吗?