A Case of Plexiform Neurofibroma with Severe Ptosis and Proptosis

ABSTRACT

PURPOSE: We present a case of plexiform neurofibroma that extensively invaded cranial and temporal bone, eyelid, orbit and uveal tissues, showing signs of severe ptosis and proptosis and symptoms of headache and ocular pain. METHODS: A 24-year old woman visited our clinic with pain and progressive proptosis, which had persisted for 2 weeks. She had a history of congenital neurofibromatosis. There were multiple Cafe-au-lait spots on her extremities, trunk, and face. Also, she had severe ptosis in her upper left eyelid, proptosis, and a distorted and asymmetric facial form. The cornea was markedly edematous. An enhanced computed tomography scan revealed an uncertain circumscribed soft tissue mass with enlargement of the eyeball and orbit, coupled with sphenoid wing dysplasia and herniation of the dura mater into the orbit due to expansion and bony destruction of the superior orbital wall. Under general anesthesia, the patient underwent excision and histopathologic biopsy of intraocular neurofibroma through evisceration. RESULTS: The tumor had black-colored multilobular nodules whose dimensions were 1.5x1.2x0.4 cm. After a histopathologic examination, the tumor was determined to be a pigmentary hamartoma of the uvea. Based on the clinical and histologic findings, we diagnosed the patient with plexiform neurofibroma with type I neurofibromatosis.