NF2 — SCE Neurology MCQ

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EasyNeuro-oncologyNF2SCE Neurology

A 35-year-old woman with NF2 has bilateral vestibular schwannomas, multiple meningiomas, and a spinal ependymoma. What is the underlying genetic condition?

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Correct answer: B — NF2

NF2 (NF2/merlin gene, chromosome 22) is characterised by bilateral vestibular schwannomas (hallmark), multiple meningiomas, spinal ependymomas, and juvenile posterior subcapsular cataracts. NF1 has café-au-lait spots, neurofibromas, optic gliomas. A: NF1 has different features. C: TSC has tubers and SEGAs. D: VHL has haemangioblastomas. E: Li-Fraumeni has multiple malignancies.

Reference: NICE NG99; NF2 Manchester Criteria