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Choroidal schwannoma in a 6-month-old girl
John J Chen1, Natalie L Kamberos2, M Sue O'Dorisio2
1Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City, Iowa.
Insights
This report details the first intraocular schwannoma found in an infant. The rare tumor mimicked retinoblastoma, highlighting the need for careful diagnosis in pediatric eye conditions.
Area of Science:
- Ophthalmology
- Pediatric Oncology
- Pathology
Background:
- Choroidal schwannomas are extremely rare in pediatric patients.
- Previous reports include only six cases in individuals under 18, with none in infants.
Observation:
- A 6-month-old infant presented with a large, amelanotic, noncalcified choroidal mass.
- The mass caused secondary glaucoma and resembled atypical retinoblastoma, necessitating emergent eye removal.
Findings:
- Pathology confirmed a total retinal detachment and glaucomatous damage.
- The mass was identified as an intraocular schwannoma, originating from the peripapillary choroid, with Antoni A patterns and S-100 positivity.
Implications:
- This case represents the youngest patient diagnosed with an intraocular schwannoma.
- It underscores the importance of considering rare diagnoses in pediatric ophthalmology, even when symptoms mimic common conditions like retinoblastoma.
Abstract:
Choroidal schwannomas are exceedingly rare in children, with only 6 cases reported in children younger than 18 years of age and none in those younger than 9 years. We report a 6-month-old infant presenting with a large noncalcified amelanotic mass with secondary glaucoma that mimicked an atypical retinoblastoma, leading to emergent enucleation for therapeutic and diagnostic purposes. Pathology revealed a total retinal detachment, glaucomatous damage, and a large mass arising from the peripapillary posterior choroid with areas of Antoni A pattern and S-100 staining consistent with the diagnosis of an intraocular schwannoma. This is the first intraocular schwannoma described in an infant.
