Neurofibromatosis type 1 (NF1): neurological features

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

Neurofibromatosis type 1 (NF1): neurological features. ≥ 6 cafe au lait spots >1.5cm. Fully referenced neurology checklist.

Diagnostic criteria

  • ≥ 6 cafe au lait spots >1.5cm
  • ≥2 neurofibromas or 1 plexiform neurofibroma
  • Axillary or groin freckles
  • Optic pathway glioma
  • Bony dysplasia
  • First degree relative with NF1
  • The criteria are fulfilled with any two of the above

Central neurological features

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Peripheral neuropathy (PN): types

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Mosaic neurofibromatosis type 1 (MNF1)

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References

  1. Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol 2007; 6:340-351.
  2. Neurofibromatosis. Conference Statement. National Institutes of Health Consensus Development. Conference. Arch Neurol 1988; 45:575-578.
  3. Ferner RE, Huson SM, Thomas N, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007; 44:81-88.
  4. Ferner RE. The neurofibromatoses. Pract Neurol 2010; 10:82-93.
  5. Habib J, Porter M, Payne JM, et al. Accelerated long-term forgetting in children with neurofibromatosis type 1. Dev Med Child Neurol 2026 (Online ahead of print).
  6. And 12 more. Subscribe to see the full list

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