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Neurofibromatosis type 1 is a rare genetic disorder, which is a benign nerve tumor resulting from aberrant growth of the cells of nerve sheath. NF1 patients were associated with multisystem involvement, characterized by neurofibroma, of which 50% were associated with plexus neurofibroma. Characteristically benign plexiform neurofibromas can cause pain, disfigurement, compression and functional changes. Although plexiform neurofibroma is common in the head and neck, the orbital plexiform neurofibroma is rare and easily confused with other orbital tumors. There is no consensus with regard to the treatment strategy of plexiform neurofibromas, current treatment has remained largely surgical, but comes with a high recurrence rate after partial removal. We describe a case of a 4-year-old patient with orbital plexiform neurofibroma who has a 3-year history of ptosis in the right eye. At the begining, we misdiagnosed it as hemangioma. After surgical resection, it was confirmed as plexiform neurofibroma by histopathological examination. One year after surgery, the tumor recurred, so surgical resection was performed again, and the ptosis was corrected. After that, the patients were followed up and examined annually, and no recurrence was found so far. This case shows that an infant or a child present with unilateral eye swelling and ptosis of the upper eyelid should be evaluated for orbital neurofibroma. |
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