Neurofibromatosis type 1 (NF1): neurological features

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

Peripheral neuropathy (PN): types

Mosaic neurofibromatosis type 1 (MNF1)

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. Giannantoni NM, Broccolini A, Frisullo G, et al. Neurofibromatosis type 1 associated with vertebrobasilar dolichoectasia and pontine ischemic stroke. J Neuroimaging 2015; 25:505-506. 
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Related checklists

• Neurofibromatosis type 1 (NF1): systemic features
• Neurofibromatosis type 1 (NF1): tumours
• Malignant peripheral nerve sheath tumours (MPNST)
• Neurofibromatosis type 1 (NF1): surveillance
• Neurofibromatosis type 1 (NF1): treatment