Asymptomatic unilateral pulsatile eye: Clinical and therapeutic evaluation of sphenoid bone defect in neurofibromatosis type I

Abstract

Introduction: Neurofibromatosis type I (NF-1) is a common inherited, multisystem, neurocutaneous disorder that predisposes to the development of benign and malignant tumors. Orbital-temporal manifestations of neurofibromatosis are not common. Case Report: We report a rare case of atypical presentation of NF-1 which presented to us with incidental asymptomatic unilateral pulsatile eye. After investigation, the patient was found to have unilateral partial sphenoid bone defect. No other orbital-temporal manifestation of neurofibromatosis was noted. Conclusion: The pathogenesis of unilateral greater wing defect in NF-1 is still unclear. Some authors have reported that the sphenoid bone defect may progress. If the defect does progress, we need to follow-up to monitor sphenoid bone defect manifestation in every orbital-temporal NF-1 patient.