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Orbital Schwannomatosis in the Absence of Neurofibromatosis
(LIPPINCOTT WILLIAMS & WILKINS, 2014) Koktekir, Bengu Ekinci; Kim, H. Jane; Geske, Mike; Bloomer, Michelle; Vagefi, Reza; Kersten, Robert C.
Purpose: The aim of this study was to describe 3 cases of primary orbital schwannomatosis without associated systemic neurofibromatosis. Methods: This is a retrospective interventional study of 3 patients who presented with multiple, distinct masses in the orbit (n = 3) as well as in the hemiface (n = 1). The clinical presentation, imaging features, surgical procedures, and outcomes were defined. Results: Two women and a man presented with of exophthalmos and diplopia. Pain was the most prominent complaint in 2 patients. None of the patients had associated systemic neurofibromatosis by history or examination. Radiologic evaluation with computed tomography or magnetic resonance imaging of orbit revealed multiple well-demarcated intraconal and extraconal masses. Masses were excised, and histopathology confirmed all masses to be schwannomas. Postoperative follow-up was uneventful with alleviation of primary complaints in all patients. Conclusions: Multiple orbital schwannomas (primary orbital schwannomatosis) may be observed in patients without systemic association of neurofibromatosis. Management includes surgical excision of the tumors to achieve relief from their mass effects.