Neurofibromatosis type 1 (NF1): surveillance

Evidence-based neurology checklist on neurofibromatosis type 1 (nf1): surveillance: Physical examination: 6-monthly from birth Nervous system Visual acuity and fundoscopy: for optic pathway glioma Skin Spine: annually in children for scoliosis Magnetic resonance imaging (MRI) Emerging investigations

Physical examination: 6-monthly from birth

  • Nervous system
  • Visual acuity and fundoscopy: for optic pathway glioma
  • Skin
  • Spine: annually in children for scoliosis

Magnetic resonance imaging (MRI)

Emerging investigations

References

  1. Ferner RE. The neurofibromatoses. Pract Neurol 2010; 10:82-93.
  2. 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.
  3. Evans DGR, Salvador H, Chang VY, et al. Cancer and central nervous system tumor surveillance in pediatric neurofibromatosis 1. Clin Cancer Res 2017; 23:e46-e53. 
  4. Tucker T, Friedman JM, Friedrich RE, Wenzel R, Funsterer C, Mautner VF. Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas. J Med Genet 2009; 46:81-85.
  5. Ahlawat S, Fayad LM, Khan MS, et al; Whole Body MRI Committee for the REiNS International Collaboration; REiNS International Collaboration Members 2016. Current whole-body MRI applications in the neurofibromatosis: NF1, NF2, and schwannomatosis. Neurology 2016; 87(7 Suppl 1):S31-S39.
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