Neurofibromatosis type 1 (NF-1) is a neurocutaneous syndrome with multisystem involvement, especially the central nervous system, eyes, and skin. In this article, we describe a patient with NF-1 with radiologically-imaged sphenoid wing aplasia that led to pulsatile enophthalmos. Although sphenoid wing aplasia in patients with NF-1 frequently occurs as painless pulsatile exophthalmos in clinical practice, as in our case it can rarely present as pulsatile enophthalmos. Globe pulsation occurs as a reflection of intracranial pulsation from direct contact of meningeal structures and globe, secondary to the defect in the posterior orbital wall. The diagnosis is made by the presence of characteristic bone defects on radiological imaging modalities and by the absence of vascular malformations on doppler ultrasonography or computed tomography angiography.
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1. Huson S, Jones D, Beck L. Ophthalmic manifestations of neurofibromatosis. Br J Ophthalmol. 1987;71(3):235-8.
2. Jacquemin C, Bosley TM, Liu D, Svedberg H, Buhaliqa A. Reassessment of Sphenoid Dysplasia Associated with Neurofibromatosis Type 1. Am J Neuroradiol. 2002;23(4):644-8.
3. Renshaw A, Borsetti M, Nelson RJ, Orlando A. Massive plexiform neurofibroma with associated meningo-encephalocoele and occipital bone defect presenting as a cervical mass. Br J Plast Surg. 2003;56(5):514-7.
4. Hamedani M, Pournaras JA, Goldblum D. Diagnosis and management of enophthalmos. Review. Surv Ophthalmol. 2007;52(5):457-73.
5. Aydin A, Velioglu M, Ersanli D. Orbital varix presenting with enophthalmos. A case report. J Fr Ophtalmol. 2010;33(5):344.
6. Menon V, Vashisht S, Gupta KK, Singh J, Prakash P. Pulsating enophthalmos in aplasia of sphenoid wing. Indian J Ophthalmol. 1993;41(2):88-90.
7. Rufa A, Zicari E, Cerase A, et al. Pulsating enophthalmos in an adult patient with type 1 neurofibromatosis. Neurology. 2006;67(12):2169.
8. Fukuta K, Jackson IT. Orbital neurofibromatosis with enophthahnos. British Journal of Plastic Surgery. 1993;46(1):36-8.
9. Savino PJ, Glaser JS, Luxenberg MN. Pulsating enophthalmos and choroidal hamartomas: Two rare stigmata of neuro-fibromatosis. Br J Ophthalmol. 1977;61(7):483- 8.
10. Yu-Feng Ye, Hui-Cheng Zhang, Ya-Nan Xie, Ji-Jie Sun, Ya-Na Wang. A case of neurofibromatosis type I presenting with rapid enophthalmos caused by thoracoentesis. Clin Experiment Ophthalmol. 2009;37(7):752-4.
11. Prabhakaran VC, Selva D. Pulsating enophthalmos in association with an orbital varix. Indian J Ophthalmol. 2009;57(3):225-7.
12. Haritoglou C, Hintschich C. Progressive enophthalmos in association with an orbital varix. Klin Monbl Augenheilkd. 2003;220(4):268-71.
13. Chung CF, Lai JSM, Enophthalmos caused by an orbital venous malformation. Hong Kong Med J. 2009;15(4):299-300.
14. Yasunari T, Shiraki K, Hattori H, Miki T. Frequency of choroidal abnormalities in neurofibromatosis type 1. Lancet. 2000;356(9234):988-92.
15. Nakakura S, Shiraki K, Yasunari T, Hayashi Y, Ataka S, Kohno T. Quantification and anatomic distribution of choroidal abnormalities in patients with type I neurofibromatosis. Graefes Arch Clin Exp Ophthalmol. 2005;243(10):980-4.