Sanyukta Chakravorty¹*, Sumit Sharma², Rashmi Nambiar¹ and Mahesh Mishra¹

¹Postgraduate Junior Resident Second Year, Department of E.N.T., Mayo Institute of Medical Sciences, Barabanki, UP, India
²Professor and Head, Department of E.N.T., Mayo Institute of Medical Sciences, Barabanki, UP, India

*Corresponding Author: Sanyukta Chakravorty, Postgraduate Junior Resident Second Year, Department of E.N.T., Mayo Institute of Medical Sciences, Barabanki, UP, India.

Received: June 14, 2022; Published: June 28, 2022

Abstract

Background: Neurofibromatosis (NF1) is an autosomal dominant, multisystem disorder. Trials are ongoing to discover and test medical treatments for the various manifestations of NF1, primarily plexiform neurofibromas, learning disabilities, and optic pathway gliomas, which are a significant cause of morbidity in these patients. Penetrance approaches 100% by age 20; if the patient has the mutation, he or she will exhibit manifestations, although expressivity is highly variable.

Objective: This case highlights the importance of early diagnosis and management in case of plexiform neurofibromatosis, to rectify conductive hearing loss and for aesthetic corrections.

Methods: Here we report a case of 22 year old female with right side conductive hearing loss with growth present over right external auditory canal.

Result: Computed tomography and histopathology revealed that this is case of plexiform neurofibromatosis which was managed by surgical excision.

Conclusion: By the help of this study, we emphasized the role of early intervention and treatment in case of plexiform neurofibromatosis to control its further growth and spread.

Keywords: Plexiform Neurofibromatosis, Cafe-au-lait Spots; Axillary Freckling; Mustarde’s Suture

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Citation

Citation: Sanyukta Chakravorty., et al. “Neurofibromatosis with Conductive Hearing Loss - A Rare Presentation".Acta Scientific Otolaryngology 4.7 (2022): 89-92.

Copyright

Copyright: © 2022 Sanyukta Chakravorty., 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.