DOI: 10.4103/joco.joco_307_25 ISSN: 2452-2325

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

Mohammad Yaser Kiarudi, Alireza Radmanesh, Mahsa Sardabi, Amin Maleki

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.

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