Sphenoid Wing Dysplasia with Pulsatile Exophthalmos in Neurofibromatosis Type 1

Neurofibromatosis type 1 (NF1) is a multisystem disease affecting the skin (café-au-lait spots, axillar/groin freckling), the central and peripheral nervous system (epilepsy, gliomas, neurofibromas), eyes (Lisch nodules), cardiovascular system (malformations), and the skeletal system.[1] Sphenoid wing dysplasia (SWD) occurs in 1 to 10% of NF1 patients.[2] SWD is often unilaterally and associated with plexiform neurofibromas in trigeminal nerve area. Absence or hypoplasia of sphenoid wing, that is, a wide opening of the superior orbital fissure can result in herniation of the temporal lobe, the dura or an arachnoid cyst causing an anterior shift of orbital content.[3] Our 2-year-old patient presented with a pulsating exophthalmos of the right eye due to temporal lobe herniation in a severe case of SWD ([Video 1], [Fig. 1A]). In addition to ptosis and the caudal dislocation and protrusion of the right eye a plexiform neurofibroma, which occurs frequently with SWD, was detected by magnetic resonance imaging ([Video 1], [Fig. 1B]).[4] The patient underwent reconstruction of the sphenoid wing because of increasing pulsatile exophthalmos. During postoperative follow-up, pulsatile exophthalmos was significantly reduced.

Video 1

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Notice the right-sided facial swelling due to the neurofibroma, the exophthalmos, and pulsations of the eye. Online content including video sequences viewable at: www.thieme-connect.com/products/ejournals/html/10.1055/s-0036-1584350.

Fig. 1 (A) Cranial CT scan with sphenoid wing dysplasia on the right side (white arrow). (B) Axial T2 FLAIR MRI scan with plexiform neurofibroma (white arrow).

• References

• 1 Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol 2014; 13 (8) 834-843
• 2 Ferner RE, Huson SM, Thomas N , et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007; 44 (2) 81-88
• 3 Jacquemin C, Bosley TM, Svedberg H. Orbit deformities in craniofacial neurofibromatosis type 1. Am J Neuroradiol 2003; 24 (8) 1678-1682
• 4 Friedrich RE, Stelljes C, Hagel C, Giese M, Scheuer HA. Dysplasia of the orbit and adjacent bone associated with plexiform neurofibroma and ocular disease in 42 NF-1 patients. Anticancer Res 2010; 30 (5) 1751-1764