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内镜手术联合钛网治疗婴幼儿孤立性眼眶肌纤维瘤:1例报告

Endoscopic surgery combined with titanium mesh for infantile solitary orbital myofibroma: a case report.

作者信息

Jiang Ligang, Jiang Xin, Wu Wencan, Jiang Fangzheng

机构信息

Department of Ophthalmology, Quzhou Affiliated Hospital of Wenzhou Medical University, Quzhou People's Hospital, Quzhou, Zhejiang, China.

Department of Economics and Management, Quzhou College of Technology, Quzhou, Zhejiang, China.

出版信息

Front Pediatr. 2025 Jun 18;13:1602242. doi: 10.3389/fped.2025.1602242. eCollection 2025.

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.

摘要

背景

报告1例3岁孤立性眼眶肌纤维瘤患儿的临床特征、误诊过程及内镜联合钛网微创治疗经验,探讨鉴别诊断要点及治疗策略。

病例报告

1例3岁男性患儿,左眼下睑进行性肿胀1个月,无眼红、眼痛、复视或眼球运动障碍。无明显家族史及既往病史。眼科检查显示右眼视力0.5,左眼视力0.6。右侧面部及下睑可见肿胀,可触及一活动度良好、质地硬、无压痛的肿块。眼球位置正常,运动规律,眼前节检查及眼底检查未见异常。影像学检查显示右侧上颌窦前壁眶下孔区有一边界清晰的椭圆形肿块(1.5 cm×2.1 cm),伴有上颌窦前壁侵蚀破坏。因影像学表现及冰冻切片与神经鞘瘤高度相似,二者均表现为边界清晰的梭形细胞瘤,故误诊为“右眼眶神经鞘瘤”。然而,该误诊未改变手术方式。我们采用内镜显微手术实现精确切除,避免损伤正常组织。同时,植入钛网修复眼眶骨缺损,恢复其解剖结构和功能。术中冰冻切片显示为梭形细胞瘤,倾向于诊断为神经鞘瘤。术后免疫组化显示SMA(+)、钙调蛋白(+)、Ki-67(+,增殖指数20%)、结蛋白(-)、S-100(-)、CD34(-)、细胞角蛋白(-),最终诊断为婴儿孤立性眼眶肌纤维瘤。

结论

婴儿眼眶肌纤维瘤临床罕见,常误诊为神经鞘瘤,确诊需行免疫组化及分子遗传学检测。内镜微创技术在保留正常组织方面具有显著优势。钛网可有效修复眼眶骨缺损,恢复解剖结构和功能。然而,需要长期随访以监测其对婴幼儿颌面发育的潜在影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7581/12213803/6f012c2e207a/fped-13-1602242-g001.jpg

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