Constellation of Imaging Findings in Neurofibromatosis Type 2- A Case Report

نویسندگان

چکیده

Neurofibromatosis type 2 (NF2), earlier known as bilateral acoustic neurofibromatosis, is an autosomal dominant disorder considered by the development of multiple tumours. It caused mutations in NF2 gene present at long arm chromosome number 22 (22q12.2) which encodes for merlin protein (tumour suppressor gene), found schwann cells involved interaction cell with extracellular matrix after binding actin or a transmembrane CD44 receptor. commonly acronym MISME syndrome that stands Multiple Inherited Schwannomas (MIS), Meningiomas (M) and Ependymomas (E). The diagnosis usually made help Magnetic Resonance Imaging (MRI) second third decade life, peak 20s. Along all these, there should be first degree relative suffering from NF2. authors presented case 18-year-old boy who was diagnosed MRI played major role diagnosis. patient managed symptomatic treatment on regular follow-up.

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ژورنال

عنوان ژورنال: International journal of anatomy radiology and surgery

سال: 2022

ISSN: ['2277-8543', '2455-6874']

DOI: https://doi.org/10.7860/ijars/2022/53436.2836