Neurofibromatosis Type 2: A Pandora’s Box of Variable Presentations
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 ch...
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| Format: | Article |
| Language: | English |
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Thieme Medical Publishers, Inc.
2022-03-01
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| Series: | Indian Journal of Neurosurgery |
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| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1722832 |
| _version_ | 1817988429558841344 |
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| author | Ashok Gandhi Swarup Sohan Gandhi Surendra Jain Shashikant Jain Paresh Sukhani |
| author_facet | Ashok Gandhi Swarup Sohan Gandhi Surendra Jain Shashikant Jain Paresh Sukhani |
| author_sort | Ashok Gandhi |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-14T00:34:05Z |
| format | Article |
| id | doaj.art-7d7cf37db08c4be2b0d88f1bd3908956 |
| institution | Directory Open Access Journal |
| issn | 2277-954X 2277-9167 |
| language | English |
| last_indexed | 2024-04-14T00:34:05Z |
| publishDate | 2022-03-01 |
| publisher | Thieme Medical Publishers, Inc. |
| record_format | Article |
| series | Indian Journal of Neurosurgery |
| spelling | doaj.art-7d7cf37db08c4be2b0d88f1bd39089562022-12-22T02:22:26ZengThieme Medical Publishers, Inc.Indian Journal of Neurosurgery2277-954X2277-91672022-03-01110103303810.1055/s-0041-1722832Neurofibromatosis Type 2: A Pandora’s Box of Variable PresentationsAshok Gandhi0Swarup Sohan Gandhi1Surendra Jain2Shashikant Jain3Paresh Sukhani4Department of Neurosurgery, Sawai Man Singh Medical College, Jaipur, Rajasthan, IndiaDepartment of Neurosurgery, Sawai Man Singh Medical College, Jaipur, Rajasthan, IndiaDepartment of Neurosurgery, Sawai Man Singh Medical College, Jaipur, Rajasthan, IndiaDepartment of Neurosurgery, Sawai Man Singh Medical College, Jaipur, Rajasthan, IndiaDepartment of Neurosurgery, Sawai Man Singh Medical College, Jaipur, Rajasthan, IndiaIntroduction 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.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1722832neurofibromatosis type 2misme syndromeschwannoma |
| spellingShingle | Ashok Gandhi Swarup Sohan Gandhi Surendra Jain Shashikant Jain Paresh Sukhani Neurofibromatosis Type 2: A Pandora’s Box of Variable Presentations Indian Journal of Neurosurgery neurofibromatosis type 2 misme syndrome schwannoma |
| title | Neurofibromatosis Type 2: A Pandora’s Box of Variable Presentations |
| title_full | Neurofibromatosis Type 2: A Pandora’s Box of Variable Presentations |
| title_fullStr | Neurofibromatosis Type 2: A Pandora’s Box of Variable Presentations |
| title_full_unstemmed | Neurofibromatosis Type 2: A Pandora’s Box of Variable Presentations |
| title_short | Neurofibromatosis Type 2: A Pandora’s Box of Variable Presentations |
| title_sort | neurofibromatosis type 2 a pandora s box of variable presentations |
| topic | neurofibromatosis type 2 misme syndrome schwannoma |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1722832 |
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