{"title":"Endoscopic surgery combined with titanium mesh for infantile solitary orbital myofibroma: a case report.","authors":"Ligang Jiang, Xin Jiang, Wencan Wu, Fangzheng Jiang","doi":"10.3389/fped.2025.1602242","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>To report the clinical features, misdiagnosis process and minimally invasive treatment experience of endoscopy combined with titanium mesh in a 3-year-old infant with isolated orbital myofibroma, and to discuss the key points of differential diagnosis and treatment strategy.</p><p><strong>Case report: </strong>A 3-year-old male patient presented with progressive swelling of the left lower eyelid for 1 month, without eye redness, eye pain, diplopia, or ocular motility disturbance. There was no significant family history or past medical history. Ophthalmic examination revealed visual acuity of 0.5 in the right eye and 0.6 in the left eye. Swelling was observed in the right face and the lower eyelid, with a palpable mass that was well-mobile, firm in texture, and non-tender. The ocular positions were normal with regular motility, while anterior segment examination and fundoscopy showed no abnormalities. Imaging information indicated a well-defined oval mass (1.5 cm × 2.1 cm) in the infraorbital foramen area of the anterior wall of the right maxillary sinus, accompanied by erosion and destruction of the anterior wall of the maxillary sinus. Because of the imaging features and frozen section were highly similar to those of schwannoma, both presenting as well-defined spindle cell tumors, a misdiagnosis of \"right orbital schwannoma\" was identified. However, that misdiagnosis did not alter the surgical approach. We performed endoscopic microsurgery to achieve precise resection and avoid damaging normal tissues. Meanwhile, a titanium mesh was implanted to reconstruct the orbital bone defect, restoring its anatomical structure and function. Intraoperative frozen section showed a spindle cell tumor, which tended to be diagnosed as schwannoma. Postoperative immunohistochemistry indicated SMA (+), Calponin (+), Ki-67 (+, proliferation index of 20%), Desmin (-), S-100 (-), CD34 (-), CK (-), leading to the final diagnosis of infantile solitary orbital myofibroma.</p><p><strong>Conclusion: </strong>Infantile orbital myofibroma is clinically rare and frequently misdiagnosed as schwannoma, which requires immunohistochemical and molecular genetic testing for definitive diagnosis. Endoscopic minimally invasive techniques demonstrate significant advantages in preserving normal tissues. Titanium mesh can effectively reconstruct orbital bone defects and restore anatomical structure and function. However, long-term follow-up is required to monitor its potential impact on maxillofacial development in infants and young children.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1602242"},"PeriodicalIF":2.0000,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12213803/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Frontiers in Pediatrics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3389/fped.2025.1602242","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
Abstract
Background: To report the clinical features, misdiagnosis process and minimally invasive treatment experience of endoscopy combined with titanium mesh in a 3-year-old infant with isolated orbital myofibroma, and to discuss the key points of differential diagnosis and treatment strategy.
Case report: A 3-year-old male patient presented with progressive swelling of the left lower eyelid for 1 month, without eye redness, eye pain, diplopia, or ocular motility disturbance. There was no significant family history or past medical history. Ophthalmic examination revealed visual acuity of 0.5 in the right eye and 0.6 in the left eye. Swelling was observed in the right face and the lower eyelid, with a palpable mass that was well-mobile, firm in texture, and non-tender. The ocular positions were normal with regular motility, while anterior segment examination and fundoscopy showed no abnormalities. Imaging information indicated a well-defined oval mass (1.5 cm × 2.1 cm) in the infraorbital foramen area of the anterior wall of the right maxillary sinus, accompanied by erosion and destruction of the anterior wall of the maxillary sinus. Because of the imaging features and frozen section were highly similar to those of schwannoma, both presenting as well-defined spindle cell tumors, a misdiagnosis of "right orbital schwannoma" was identified. However, that misdiagnosis did not alter the surgical approach. We performed endoscopic microsurgery to achieve precise resection and avoid damaging normal tissues. Meanwhile, a titanium mesh was implanted to reconstruct the orbital bone defect, restoring its anatomical structure and function. Intraoperative frozen section showed a spindle cell tumor, which tended to be diagnosed as schwannoma. Postoperative immunohistochemistry indicated SMA (+), Calponin (+), Ki-67 (+, proliferation index of 20%), Desmin (-), S-100 (-), CD34 (-), CK (-), leading to the final diagnosis of infantile solitary orbital myofibroma.
Conclusion: Infantile orbital myofibroma is clinically rare and frequently misdiagnosed as schwannoma, which requires immunohistochemical and molecular genetic testing for definitive diagnosis. Endoscopic minimally invasive techniques demonstrate significant advantages in preserving normal tissues. Titanium mesh can effectively reconstruct orbital bone defects and restore anatomical structure and function. However, long-term follow-up is required to monitor its potential impact on maxillofacial development in infants and young children.
背景:报告1例3岁婴幼儿孤立性眼眶肌纤维瘤的临床特点、误诊过程及微创治疗经验,并探讨鉴别诊断要点及治疗策略。病例报告:一名3岁男性患者,左下眼睑进行性肿胀1个月,无眼红、眼痛、复视、眼球运动障碍。没有明显的家族史或既往病史。眼科检查显示右眼视力0.5,左眼视力0.6。右脸及下眼睑肿胀,可触及肿块,移动良好,质地坚硬,无压痛。眼位正常,运动规律,前节检查及眼底镜检查未见异常。影像学显示右侧上颌窦前壁眶下孔区有一清晰的椭圆形肿块(1.5 cm × 2.1 cm),伴上颌窦前壁糜烂破坏。由于影像特征和冰冻切片与神经鞘瘤高度相似,均表现为界限分明的梭形细胞肿瘤,因此误诊为“右眼神经鞘瘤”。然而,误诊并没有改变手术方法。我们进行了内镜显微手术,以达到精确切除和避免损伤正常组织。同时植入钛网修复眶骨缺损,恢复眶骨解剖结构和功能。术中冰冻切片显示梭形细胞瘤,倾向于诊断为神经鞘瘤。术后免疫组化示SMA(+)、Calponin(+)、Ki-67(+,增殖指数20%)、Desmin(-)、S-100(-)、CD34(-)、CK(-),最终诊断为婴幼儿孤立性眼眶肌纤维瘤。结论:小儿眼眶肌纤维瘤临床罕见,易误诊为神经鞘瘤,需要免疫组化和分子遗传学检测才能确诊。内镜微创技术在保护正常组织方面具有显著优势。钛网能有效修复眶骨缺损,恢复解剖结构和功能。然而,需要长期随访来监测其对婴幼儿颌面发育的潜在影响。
期刊介绍:
Frontiers in Pediatrics (Impact Factor 2.33) publishes rigorously peer-reviewed research broadly across the field, from basic to clinical research that meets ongoing challenges in pediatric patient care and child health. Field Chief Editors Arjan Te Pas at Leiden University and Michael L. Moritz at the Children''s Hospital of Pittsburgh are supported by an outstanding Editorial Board of international experts. This multidisciplinary open-access journal is at the forefront of disseminating and communicating scientific knowledge and impactful discoveries to researchers, academics, clinicians and the public worldwide.
Frontiers in Pediatrics also features Research Topics, Frontiers special theme-focused issues managed by Guest Associate Editors, addressing important areas in pediatrics. In this fashion, Frontiers serves as an outlet to publish the broadest aspects of pediatrics in both basic and clinical research, including high-quality reviews, case reports, editorials and commentaries related to all aspects of pediatrics.