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

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.