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Year : 2017  |  Volume : 11  |  Issue : 2  |  Page : 99-102

Neurofibromatosis with pulsating exophthalmos

1 Department of Radiology, School of Medicine, University of Benin, Benin, Edo, Nigeria
2 Department of Dental Radiology, School of Dentistry, University of Benin, Benin, Edo, Nigeria

Correspondence Address:
Festus Oghanina Ehigiamusoe
Department of Radiology, School of Medicine, University of Benin, Benin, Edo
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/phmj.phmj_6_15

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Background: Neurofibromatosis (NF) is a neurocutaneous disorder which involves many organs in the body. There are two types: NF-1 and NF-2. Orbital manifestation is a rarity in NF-1, and it involves dysplasia of the sphenoid bone resulting in herniation of the temporal lobe and subarachnoid space into the orbit culminating in pulsating exophthalmos. Aim: To highlight the clinical presentation and radiological investigation of this rare ocular manifestation of NF-1. Methods: A case report. Results: The case of a 20-year-old male student presenting with a pulsating right eye swelling of about 17-year duration is presented. There was a family history of a first-degree relative with multiple skin swellings. Plain skull radiograph and cranial computed tomography (CT) scan were done and both revealed absence of the right sphenoid bone with herniation of the right temporal lobe and cerebrospinal fluid space into the right orbit. The patient was subsequently lost to follow-up. Conclusion: Pulsating exophthalmos is a complication of sphenoid dysplasia, a rare component of NF-1. Plain skull radiograph and cranial CT scan are two important radiological imaging modalities for investigating patients with such presentation.

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