Neurofibromatosis type 2 (NF2): clinical features

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Neurofibromatosis type 2 (NF2): clinical features. NF2 is a tumour predisposition syndrome. Fully referenced neurology checklist.

Pathology

  • NF2 is a tumour predisposition syndrome
  • It is defined by vestibular schwannomas
  • There is also an association with other tumours

Features of vestibular schwannomas

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Ophthalmic features

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Other features

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Differential diagnosis: of unilateral vestibular schwannomas

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Differential diagnoss: of bilateral vestibular schwannomas

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Synonym

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References

  1. Ferner RE. The neurofibromatoses. Pract Neurol 2010; 10:82-93.
  2. Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol 2007; 6:340-351.
  3. Gregory GE, Islim AI, Hannan CJ, et al. The clinical, genetic, and immune landscape of meningioma in patients with NF2-schwannomatosis. Neurooncol Adv 2023; 5(Suppl 1):i94-i104.
  4. Gareth D, Evans R. Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis 2009; 4:16.
  5. Afridi SK, Thomson S, Connor SEJ, Walsh DC, Ferner RE. Aneurysms in neurofibromatosis type 2: evidence for vasculopathy? Am J Med Genet A 2017; 173:1562-1565.
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