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Year :2022
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Month :
October
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Volume :
11
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Issue :
4
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Page :
RC03 - RC05
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Constellation of Imaging Findings in Neurofibromatosis Type 2- A Case Report
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Correspondence Address :
Amandeep Singh, Guneet Awal, Parmeet Kaur,
Amandeep Singh,
469, East Mohan Nagar, Sultanwind Road, Amritsar, Punjab, India.
E-mail: dr.amancs@gmail.com
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Introduction: Neurofibromatosis type 2 (NF2), earlier known as bilateral acoustic neurofibromatosis, is an autosomal dominant disorder considered by the development of multiple tumours. It is caused by mutations in NF2 gene present at the long arm of chromosome number 22 (22q12.2) which encodes for merlin protein (tumour suppressor gene), found in the schwann cells involved in interaction of cell with extracellular matrix after binding with actin or a transmembrane CD44 receptor. NF2 is commonly known by acronym MISME syndrome that stands for Multiple Inherited Schwannomas (MIS), Meningiomas (M) and Ependymomas (E). The diagnosis of NF2 is usually made with the help of Magnetic Resonance Imaging (MRI) in the second or third decade of life, with a peak in the 20s. Along with all these, there should be a first degree relative suffering from NF2. The authors presented a case of 18-year-old boy who was diagnosed with NF2. MRI played a major role in the diagnosis. The patient was managed with symptomatic treatment and is on regular follow-up.
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