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Intraocular Ependymoma in a Child - Case report
Yehonatan Weinberger1,2, Jonathan Weidenfeld2,3, Ido Didi Fabian2,4
1Ophthalmology department, Rabin Medical Center, Petah-Tikva, Israel.
Insights
This case report details a rare childhood intraocular ependymoma, initially misdiagnosed as medulloepithelioma. Diagnosis was confirmed via histology and molecular studies after treatment failure and enucleation.
Area of Science:
- Ophthalmology
- Pediatric Oncology
- Neuropathology
Background:
- Intraocular tumors in children are rare and often challenging to diagnose.
- Ciliary body medulloepithelioma is a common intraocular tumor in childhood.
- Accurate diagnosis is crucial for appropriate management and prognosis.
Purpose of the Study:
- To report an extremely rare case of intraocular ependymoma in a child.
- To highlight diagnostic challenges and the importance of comprehensive pathological analysis.
- To emphasize the need to consider intraocular ependymoma in the differential diagnosis of pediatric intraocular tumors.
Main Methods:
- Case report detailing clinical presentation, treatment course, and enucleation.
- Histopathological examination including immunohistochemistry (GFAP, S100, EMA, L1CAM, Olig2).
- Molecular genetic studies to identify specific fusion sequences (C11orf95-RELA).
Main Results:
- A 5-year-old boy was initially diagnosed with ciliary body medulloepithelioma.
- Treatment with plaque brachytherapy failed, leading to neovascular glaucoma and enucleation.
- Histology revealed atypical cells in pseudorosettes, and immunohistochemistry/molecular studies confirmed intraocular ependymoma.
Conclusions:
- Intraocular ependymoma is an exceptionally rare diagnosis in pediatric ophthalmology.
- Comprehensive histopathological and molecular analysis is essential for definitive diagnosis.
- Intraocular ependymoma should be considered in the differential diagnosis of pediatric retinal and ciliary body tumors.
Purpose:
To report a rare case of intraocular ependymoma in childhood.
Methods:
A case report depicting the clinical timeline, initial diagnosis and management as well as final diagnosis upon description of histological and pathological findings and supportive ancillary testing, performed on the enucleated eye.
Results:
We present a case report of a 5-year-old boy initially diagnosed with ciliary body medulloepithelioma. Upon failed plaque brachytherapy treatment, resulting in neovascular glaucoma, intraocular hemorrhage and a blind and painful eye, the child underwent secondary enucleation. Histological findings of atypical cells in pseudorosette (uncommon in medulloepithelioma), as well as immunohistochemical positive staining for glial fibrillary acidic protein (GFAP), S100, epithelial membrane antigen (EMA), L1 cell adhesion molecule (L1CAM) and negative for Olig2 with subsequent molecular genetic studies positive for C11orf95-RELA fusion sequence confirmed the rare diagnosis of intraocular ependymoma.
Conclusion:
Although extremely rare, intraocular ependymoma should be included as part of the differential diagnosis of retinal and ciliary body tumors in childhood.
