Timothy Greenwell, Simon Madge, Paul Cannon, Dinesh Selva, Peter Anderson, David David
To present our experience of the clinical presentation, management, and outcomes of a large cohort of patients with orbitotemporal neurofibroma-tosis (OTNF) followed-up over a long period of time.
The study was a retrospective, longitudinal case series of OTNF patients presenting to the Austra-lian Craniofacial Unit, Adelaide, during a 27-year period. Case notes were reviewed, recording symp-toms and baseline examination, relevant investiga-tions, the number and types of interventions performed, complications and final outcomes.
Thirty-eight patients were followed up for a mean duration of 79 months (range 2–228). Common symptoms were facial swelling (95%), visual impair-ment (36%), diplopia (13%), and headache (5%). Examination and imaging findings included orbital dystopia (92%), sphenoid dysplasia (89%), upper lid ptosis (87%), canthal disinsertion (58%), and propto-sis (53%; 70% pulsatile). Twenty-two percent had an ipsilateral blind eye.Eight-four percent underwent surgery, with a median of 2 surgeries (range 1–7) during follow-up. Seventy-two percent were via transcranial approach. Tumour debulking (97%), orbital bone grafting (75%), and ptosis repair (62%) were the most common proce-dures. Sixteen percent underwent enucleation.Sixty-eight percent had a complication. Residual ptosis (32%), unsatisfactory lid contour (25%), and residual dystopia (22%) were most common. Three (9%) had bone graft resorption with recurrent pulsatile exoph-thalmos. Overall 8% had significant visual loss. Further interventions were planned for 46% of patients.
Treatment of OTNF is challenging, with unstable outcomes necessitating multiple surgeries. The current study is the most comprehensive of its kind detailing the presentation and longitudinal man-agement of this rare condition.