Anna Gkountelia*, Richard Scawn and Wessam Mina

Chelsea and Westminster Craniofacial Department, London, United Kingdom

*Corresponding Author: Anna Gkountelia, Chelsea and Westminster Craniofacial Department, London, United Kingdom.

Received: May 16, 2022; Published: July 13, 2022

Abstract

Introduction: Neurofibromatosis type I (NFI) is a fairly frequent (1 in 3000 live births), autosomal dominant, neurocutaneous disorder that has considerable clinical variability. In orbitocranio NFI (OCNF), which occurs in 1–22% of patients, NFs may cause progressive, disfiguring tumours of the orbital, facial, and temporal areas [1,2,4-8]. In this presentation, we report the experience with clinical observation and surgical management of rare bilateral OCNF, in two patients (2:162) seen at Chelsea and Westminster Hospital.

Method: Patients diagnosed with NFI were identified and medical records reviewed for demographic data, ophthalmologic examinations, surgical interventions and procedure outcome to create a retrospective, non-comparative case series of patients with bilateral OCNF seen at one medical centre over a 10-year period.

Result: Two patients with bilateral OCNF have been identified in a total of 162 cases with NFI. A 33yo man with extensive soft tissue infiltration (mass lesions) involving the face and anterior-superior scalp and neck, ovoid mass posterior to the spinous process of C2, infiltration of the para pharyngeal spaces partially compressing the oropharynx, bilateral orbital involvement with small calcified globe on the left side and sphenoid wing dysplasia, asymmetry of the skull vault with relative thinning on the left hemisphere. He had several previous surgeries on both his eyelids, as far as cataract surgery and NF debulking from forehead and orbits. His current visual acuity is 6/18 in the right eye and no perception of light in the left.

Keywords: OCNF; Neurofibromatosis Type I (NFI); Tumour

References

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Citation

Citation: Anna Gkountelia., et al. “Bilateral Orbital-cranio NF Type I: 2 Rare Cases Presentation".Acta Scientific Ophthalmology 5.8 (2022): 15-17.

Copyright

Copyright: © 2022 Anna Gkountelia., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.