Sphenoid wing dysplasia (SWD) is a common orbital complication of neurofibromatosis type 1 (NF1). However, enophthalmos associated with SWD is extremely rare, and details of its natural history are unclear. We present the case of a 14-year-old boy with an early childhood diagnosis of NF1 presenting with left blepharophimosis and enophthalmos for several months. Imaging demonstrated enlargement of the left lateral SWD, progression of the posteromedial deviation of the orbital contents, and sphenoid/ethmoid sinus deformation due to left temporal lobe compression over 12 years. Two characteristic changes were revealed on imaging: enlargement of the middle cranial fossa and deformation of the sphenoid/ethmoid sinuses. The orbital contents were compressed by the intracranial pressure of the temporal lobe and were displaced posteromedially into the space created by the deformed sphenoid/ethmoid sinuses. Because orbital symptoms can gradually become apparent over years with the progression of SWD and skeletal growth, long-term follow-up of orbital symptoms is recommended in patients with NF1.
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