Cranio-Orbital Abnormalities in Orbital Neurofibromatosis Type I

Abstract

Objective To review the possible manifestation and mechanism of Cranio-Orbital Changes in Orbital Neurofibromatosis Type Ⅰ (NF-1). Methods The CT imaging abnormalities of the orbit and cranium in 5 patients with Orbital NF-1 were reviewed retrospectively. Results Orbital and cranial abnormalities were documented in 5 patients including 3 cases of tumor in cranium-orbit and 2 cases of tumor in upper eyelid, tempora, and forehead. Five cases had defect of the greater sphenoid wings; 5 had expansion of the orbital foramen, the superior orbital fissure; 1 had epippium abnormality, 1 had temporal bone abnormality,1 had defect of wall of orbit. In addition, 4 cases of orbital and cranial abnormalities contiguous to the arachnoid cyst. Conclusions Patients with orbit NF-1, bony orbital and cranial changes occur frequently, and defects of the greater sphenoid wings can be explained by a congenital neuroectodermal and mesodermal maldevelopment hypothesis. In addition, the orbital NF-1 mass and arachnoid cyst is associated with orbital and cranial abnormalities. Key words: Orbital neurofibromatosis type Ⅰ; Cranio-orbital abnormalities; CT