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CC BY-NC-ND 4.0 · Indian Journal of Neurosurgery 2022; 11(01): 033-038
DOI: 10.1055/s-0041-1722832
Original Article

Neurofibromatosis Type 2: A Pandora’s Box of Variable Presentations

Ashok Gandhi
1   Department of Neurosurgery, Sawai Man Singh Medical College, Jaipur, Rajasthan, India
,
Swarup Sohan Gandhi
1   Department of Neurosurgery, Sawai Man Singh Medical College, Jaipur, Rajasthan, India
,
Surendra Jain
1   Department of Neurosurgery, Sawai Man Singh Medical College, Jaipur, Rajasthan, India
,
Shashikant Jain
1   Department of Neurosurgery, Sawai Man Singh Medical College, Jaipur, Rajasthan, India
,
Paresh Sukhani
1   Department of Neurosurgery, Sawai Man Singh Medical College, Jaipur, Rajasthan, India
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Abstract

Introduction Neurofibromatosis type 2 (NF2) also known as MISME syndrome stands for multiple inherited schwannomas, meningiomas, and ependymomas in the peripheral and central nervous system. It is a rare disorder of autosomal dominant inheritance due to mutations of a tumor-suppressor gene on the chromosome 22q12. Clinically, it is characterized by multiple benign tumors arising in both the central and peripheral nervous system, particularly from the bilateral vestibular nerve, in more than 90% of the patients, with more than two thirds of them developing spinal tumors.

Materials and Methods Here, we studied the variable presentations of cases of NF2, and thorough evaluation of patients was done by contrast MRI of brain and spine. Also, evaluation of ocular manifestations and cutaneous features was done in cases of NF2, and a follow-up was done for a period of 18 months with monitoring of cranial and spinal lesions.

Conclusion We studied the various presentations of NF2 and found that a significant proportion of the patients presented with nonvestibular tumors as the initial presentation, with bilateral cerebellopontine angle lesions being an incidental finding; also, the age of presentation in half of the patients was less than 30 years, and so we can conclude that in young patients with spinal tumors or multiple meningiomas, a thorough evaluation regarding family history and various features of NF2 should be done, so that early identification of the disease could be done and patients can be benefitted from timely interventions.

Keywords

neurofibromatosis type 2 - MISME syndrome - schwannoma


Publication History

Article published online:
29 April 2021

© 2021. Neurological Surgeons’ Society of India. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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