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- W4283751569 abstract "Neurofibromatosis Type II ( NF2 ) is a neurocutaneous syndrome with autosomal dominant inheritance caused by mutation in NF2 gene that codes for protein merlin. It is associated with various tumours such as vestibular schwannoma, meningiomas, ependymomas, etc. in central and peripheral nervous system. The Manchester criteria is used for its diagnosis. We report a case of a 9 year old girl with café au lait spots and plexiform neurofibromas who presented with gradual onset UMN type of progressive quadriparesis over 20 days. Magnetic resonance imaging brain and spine revealed bilateral vestibular schwannomas and multiple spinal neurofibromas which were confirmed on histopathologic examination, thereby confirming diagnosis of NF Type 2." @default.
- W4283751569 created "2022-07-02" @default.
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- W4283751569 date "2022-07-01" @default.
- W4283751569 modified "2023-10-07" @default.
- W4283751569 title "Spinal neurofibromas presenting as quadriparesis in a case of neurofibromatosis Type 2" @default.
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- W4283751569 doi "https://doi.org/10.25259/wjwch_2022_08" @default.
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