Radiological insights into orbital and periorbital plexiform neurofibromas in children with neurofibromatosis type 1.

Plexiform neurofibromas (PNFs) are benign overgrowths that diffusely infiltrate all components of a peripheral nerve. These lesions commonly affect the face and limbs, with many facial PNFs originating in or eventually spreading to the eye socket. Even in the absence of other characteristic symptoms of von Recklinghausen disease (neurofibromatosis), the presence of orbital PNFs is diagnostic of this condition. Although relatively uncommon, orbital PNFs are the most common type of orbital mass in patients with neurofibromatosis. While PNFs are a hallmark of NF1, the orbito-palpebral subtype is relatively rare and is often misdiagnosed, particularly when it presents without other dramatic facial deformities. This case illustrates an extensive lesion involving both intra- and extra-conal spaces, associated with ectropion and visual impairment - a rare and complex presentation.