Orbitofacial neurofibromatosis (OFNF) is considered a variant of neurofibromatosis type 1 (NF1). OFNF most often affects the eye, orbit and one side of the face. It is characterized by the development of relatively aggressive and disfiguring lesions, including plexiform and diffuse neurofibromas. Ciliochoroidal ganglioneuromas have not been previously reported in patients with this syndrome. We report the case of a 50-year-old man with OFNF, ciliochoroidal ganglioneuroma and a large ipsilateral frontoethmoidal encephalocele.
- frontoethmoidal encephalocele
- neurofibromatosis type 1
- orbitofacial neurofibromatosis
- plexiform neurofibroma
ASJC Scopus subject areas
- Pathology and Forensic Medicine
- Clinical Neurology