Rhombencephalosynapsis associated with infantile strabismus
Silay Canturk1, Sibel Oto, Osman Kizilkilic
1Department of Ophthalmology, Baskent University School of Medicine, Ankara, Turkey. silaycanturk@gmail.com
Strabismus
|February 29, 2008
Summary
Rhombencephalosynapsis (RES), a rare cerebellar malformation, can be associated with infantile esotropia. Head nodding during walking in children with strabismus warrants neuroimaging to investigate potential underlying conditions like RES.
Area of Science:
- Neurology
- Ophthalmology
- Developmental Biology
Background:
- Rhombencephalosynapsis (RES) is a rare cerebellar malformation characterized by vermian hypoplasia and fused hemispheres.
- The association between RES and oculomotor system abnormalities is not well-documented.
- Cerebellar malformations are known to co-occur with oculomotor system disorders.
Observation:
- Two pediatric cases with Rhombencephalosynapsis (RES) are presented.
- Case 1: A 15-year-old female with infantile esotropia, inferior oblique overaction, head nodding, and tremor.
- Case 2: An 8-month-old female with facial dysmorphism, esotropia, anisometropia, motor delay, and ataxia.
Findings:
- Cranial MRI confirmed Rhombencephalosynapsis (RES) in both patients.
- Infantile esotropia and head nodding were observed in conjunction with RES.
- The vermis may play a role in maintaining ocular alignment.
Implications:
- The presence of head nodding in strabismic children necessitates neuroimaging.
- Early diagnosis of Rhombencephalosynapsis (RES) is crucial for managing associated neurological and ophthalmological conditions.
- Further research is needed to elucidate the etiology and full spectrum of RES.
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