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Case Report

Pulsating Enophthalmos in Neurofibromatosis Type 1

Yildiray Yildirim, Eyup Duzgun, Serkan Aribal, Taner Kar, Mehmet Sabahyildizi


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.

Key words: Neurofibromatosis type 1, pulsating enophthalmos, sphenoid wing dysgenesis

Med-Science. 2015; 4(4): 2920-7

Medicine Science Vol:4 Issue:4 Year:2015 PP:2700-2988
Posted in Vol: 4 Issue: 4 Year: 2015 December pp: 2700-2988

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