Primary Cerebellar Agenesis in a Child with Esotropia: A Case Report and Literature Review.

IF 0.9 Q3 OPHTHALMOLOGY
Journal of Current Ophthalmology Pub Date : 2026-06-23 eCollection Date: 2025-10-01 DOI:10.4103/joco.joco_307_25
Mohammad Yaser Kiarudi, Alireza Radmanesh, Mahsa Sardabi, Amin Maleki
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引用次数: 0

Abstract

Purpose: To highlight the importance of neuroimaging in children with esotropia and developmental delay and to support botulinum toxin as a minimally invasive treatment option when major brain malformations are present.

Methods: We describe an 18-month-old girl with infantile esotropia and mild developmental delay. Brain magnetic resonance imaging revealed near-complete cerebellar agenesis with a hypoplastic pons. Considering this malformation, bilateral medial rectus botulinum toxin injections (15 units in 0.1 mL per muscle, freehand technique) were performed instead of conventional strabismus surgery.

Results: Ocular alignment improved with satisfactory cosmetic appearance, and stability was maintained throughout 4 months of follow-up. Genetic testing was not performed at the time because of follow-up limitations; however, it is recommended for further etiological clarification.

Conclusion: This case highlights the importance of neuroimaging in children with esotropia and developmental delay and supports botulinum toxin as a minimally invasive treatment option when major brain malformations are present.

内斜视儿童原发性小脑发育不全1例报告及文献复习。
目的:强调神经影像学在内斜视和发育迟缓儿童中的重要性,并支持肉毒杆菌毒素作为一种微创治疗选择,当出现重大脑畸形时。方法:我们描述了一个18个月大的婴儿内斜视和轻度发育迟缓的女孩。脑磁共振成像显示小脑发育不全,脑桥发育不全。考虑到这种畸形,双侧内侧直肌注射肉毒杆菌毒素(15单位,每块肌肉0.1 mL,徒手技术)代替传统的斜视手术。结果:眼部排列改善,外观满意,随访4个月,眼部稳定。由于随访限制,当时没有进行基因检测;然而,建议进一步澄清病因。结论:本病例强调了内斜视和发育迟缓儿童神经影像学的重要性,并支持肉毒杆菌毒素作为存在重大脑畸形的微创治疗选择。
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来源期刊
CiteScore
2.50
自引率
6.70%
发文量
45
审稿时长
8 weeks
期刊介绍: Peer Review under the responsibility of Iranian Society of Ophthalmology Journal of Current Ophthalmology, the official publication of the Iranian Society of Ophthalmology, is a peer-reviewed, open-access, scientific journal that welcomes high quality original articles related to vision science and all fields of ophthalmology. Journal of Current Ophthalmology is the continuum of Iranian Journal of Ophthalmology published since 1969.
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