Sphenoid greater wing dysplasia associated with neurofibromatosis type I: a case report and review of the literature

Abstract

Objective To discuss the etiology, pathogenesis, clinical manifestation, diagnosis and therapy of sphenoid wing dysplasia(SWD) associated with neurofibromatosis type Ⅰ(NF-Ⅰ). Methods We retrospectively reviewed its clinical manifestations, imaging, surgical treatment, complications and postoperative outcome of one NF-Ⅰ patient with SWD. Results A 14 years-old girl presented with pulsating exophthalmos, loss of vision and cafe au lait spots. Radiological studies showed right-side orbital enlargement and complete absence of the greater wing of the sphenoid. Titanium mesh was tailored intraoperatively to close the defect as a barrier between the orbital cavity and the cranium and then covered by periosteum.The patient developed postoperative infectious which was controlled by after antibiotic treatment and proper drainage. Proptosis improved significantly after surgery within a month. Ocular pulsation subsided and clinical symptoms improved at 28-month follow-up. Conclusions Sphenoid greater wing dysplasia associated with neurofibromatosis type Ⅰ is a rare inherited autosomal dominant disorders. The treatment should be customized to each patient. Titanium mesh reconstruction is patients with symptomatic sphenoid dysplasia. It can correct the proptosis and pulsating exophthalmos without the risk of bone resorption and recurrence.However, high risk of infection is associated with the procedure. Key words: Neurofibromatosis type Ⅰ; Sphenoid wing dysplasia; Titanium; Exophthalmos; Skull base Reconstruction