Intraocular Ependymoma in a Child – Case report

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.