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🧠 Neurofibromatosis type 2

πŸ–Š Neurofibromatosis type 2 is an autosomal-dominant multiple neoplasia syndrome that results from mutations in the NF2 tumour suppressor gene located on chromosome 22q.
πŸ–Š It has a frequency of one in 25,000 livebirths and nearly 100% penetrance by 60 years of age.
πŸ–Š Half of patients inherit a germline mutation from an affected parent and the remainder acquire a de novo mutation for neurofibromatosis type 2.
πŸ–Š Patients develop nervous system tumours (schwannomas, meningiomas, ependymomas, astrocytomas, and neurofibromas), peripheral neuropathy, ophthalmological lesions (cataracts, epiretinal membranes, and retinal hamartomas), and cutaneous lesions (skin tumours).

πŸ”ŽSource:
- Neurosurgery Board Review, Third Edition
- Neurofibromatosis type 2: A Review study


#MCQ #Neuroradiology
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πŸ“ Join us in BRAINet
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β˜‘οΈ Email: brainet.neuroscience@gmail.com
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🧠 Neurofibromatosis type 2

πŸ–Š Neurofibromatosis type 2 is an autosomal-dominant multiple neoplasia syndrome that results from mutations in the NF2 tumour suppressor gene located on chromosome 22q.
πŸ–Š It has a frequency of one in 25,000 livebirths and nearly 100% penetrance by 60 years of age.
πŸ–Š Half of patients inherit a germline mutation from an affected parent and the remainder acquire a de novo mutation for neurofibromatosis type 2.
πŸ–Š Patients develop nervous system tumours (schwannomas, meningiomas, ependymomas, astrocytomas, and neurofibromas), peripheral neuropathy, ophthalmological lesions (cataracts, epiretinal membranes, and retinal hamartomas), and cutaneous lesions (skin tumours).

πŸ”ŽSource:
- Neurosurgery Board Review, Third Edition
- Neurofibromatosis type 2: A Review study


#MCQ #Neuroradiology
β€”β€”β€”β€”β€”β€”β€”β€”β€”β€”β€”β€”β€”
πŸ“ Join us in BRAINet
β˜‘οΈ Telegram: @theBRAINet
β˜‘οΈ Instagram: @theBRAINet
β˜‘οΈ Email: brainet.neuroscience@gmail.com
β˜‘οΈ Website: theBRAINet.org

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