Pulsating enophthalmos in an adult patient with type 1 neurofibromatosis

A 36-year-old woman with type 1 neurofibromatosis (NF1) presented with a 10-year history of painless pulsating enophthalmos (PE) of the right eye. Valsalva maneuver induced exophthalmos. Pulsation was synchronous with heartbeat (video at www.neurology.org). Brain imaging showed right smaller sphenoid wing dysplasia (SWD) (figure). Unilateral SWD, possibly associated with orbital plexiform neurofibroma, is a cause of unilateral ocular pulsation in infancy.1 Enophthalmos usually results from enlargement of superior orbital fissure secondary to absence of part of the sphenoid bone. Development of intraorbital masses or spheno-orbital encephalocele may lead to exophthalmos. Adult onset is uncommon. It is rare that PE is the only symptom, as in this patient.2