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Primary Cerebellar Agenesis in a Child with Esotropia: A Case Report and Literature Review
Mohammad Yaser Kiarudi1, Alireza Radmanesh2, Mahsa Sardabi3
1Eye Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
Insights
Neuroimaging is crucial for children with esotropia and developmental delay. Botulinum toxin injections offer a minimally invasive treatment for those with brain malformations.
Area of Science:
- Pediatric Ophthalmology
- Pediatric Neurology
- Neuroimaging
Background:
- Esotropia and developmental delay in children can indicate underlying neurological conditions.
- Identifying brain malformations is critical for appropriate treatment planning in pediatric strabismus.
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.
