Magnetic resonance imaging findings of orbital disease in neurofibromatosis type 1 patients

Abstract

To explore the magnetic resonance imaging (MRI) features of neurofibromatosis type 1 (NF1) with orbital involvement. We retrospectively reviewed the MRI findings of orbital abnormalities in 80 NF1 patients (86 orbits). The diagnosis was confirmed by the updated National Institute of Health (NIH) criteria. All of them underwent MRI scans of orbit or brain while 71 patients had contrast enhancement. The orbital abnormalities were documented in 80 patients. And 79 cases (85 orbits) had plexiform neurofibroma in orbit and/or adjacent regions. The orbital involvements extended to superficial temporal fossa (n = 61), infratemporal fossa (n = 31), cavernous sinus (n = 61) and pterygopalatine fossa (n = 51). There was mild-to-moderate enhancement in 71 orbits on contrast-enhanced MRI examinations. There were localized defects of orbital walls because of sphenoid bone dysplasia of greater wing (n = 79), sphenoid bone dysplasia of lesser wing (n = 72), augmentation (glaucoma) of eyeballs (n = 32) and optic nerve gliomas (n = 5). And 53 cases had hyperintense lesions on T2-weighted brain images. Orbital involvement is common for NF1. And MRI is a useful tool of evaluating the extent of involvements and other abnormalities in the NF1 patients.