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- W3207988660 abstract "Abstract Introduction/Objective Ganglioneuromas are rare, fully differentiated, benign neuronal tumors arising from neural crest cells anywhere along the sympathetic nervous system. However, they can undergo dedifferentiation and give rise to malignant neuroblastoma and ganglioneuroblastoma. Choroidal ganglioneuroma is exceptionally rare and usually an unexpected histopathological diagnosis. We report a pediatric patient with neurofibromatosis type 1, who underwent evisceration of a painful blind eye with subsequent histopathological examination confirming a diagnosis of choroidal ganglioneuroma. Methods/Case Report A 15-year-old boy with a medical history of neurofibromatosis type 1, plexiform neurofibroma of the right face and right orbit, right optic pathway glioma, and right painful blind eye secondary to congenital glaucoma underwent evisceration of the right eye with placement of orbital implant. On histopathological examination a choroidal lesion was identified adjacent to the pigmented retinal epithelium. This lesion showed proliferation of spindle-shaped cells admixed with clusters of ganglion cells. There were no signs of atypia, necrosis, or pleomorphism. The ganglion cells showed abundant cytoplasm with large vesicular nucleus and prominent nucleoli. The spindle cells were positive for S-100 immunostain and the ganglion cells were positive for synaptophysin. These findings were diagnostic of choroidal ganglioneuroma. Results (if a Case Study enter NA) NA Conclusion Choroidal ganglioneuroma, in addition to being a clinically unsuspected diagnosis, is exceptionally rare in patients with neurofibromatosis type 1. Medical literature on choroidal ganglioneuroma is sparse, however, it is reported that these benign tumors can locally recur with malignant transformation, and therefore close follow-up is advised." @default.
- W3207988660 created "2021-11-08" @default.
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- W3207988660 date "2021-10-01" @default.
- W3207988660 modified "2023-09-27" @default.
- W3207988660 title "Choroidal Ganglioneuroma: An Unexpected Diagnosis" @default.
- W3207988660 doi "https://doi.org/10.1093/ajcp/aqab191.186" @default.
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