Neurofibromatosis

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Neurofibromatosis is a genetic conditions, also known as von Recklinghausen's disease. It is abbreviated as NF.

It comes in two flavours:

  1. Neurofibromatosis type 1 - NF1 (peripheral).
  2. Neurofibromatosis type 2 - NF2 (central).

Neurofibromatosis type 1

Features (need 2/7 to diagnose):[1]

  1. Two or more neurofibromas or one plexiform neurofibroma.
  2. Café-au-lait spots.
  3. Freckles in axilla or inguinal area.
  4. Optic nerve glioma.
  5. Iris hamartomas (Lisch nodules).
  6. Sphenoid dysplasia or typical long-bone abnormalities (e.g. bowing).
  7. First-degree relative with NF1.

Mnemonic

CAFE SPOT:[2]

  • Café-au-lait spots.
  • Axillary or inguinal freckling.
  • neuroFibroma (two or more) or plexiform neurofibroma (one).
  • Eye hamartomas (Lisch nodules).
  • Skeletal abnormalities, e.g. sphenoid dysplasia, leg bowing.
  • Positive family history.
  • Optic Tumour (optic nerve glioma).

Neurofibromatosis type 2

Features (need 1/3 to diagnose):[3]

  1. Bilateral CNVIII masses on imaging.
  2. Unilateral CNVIII mass + first-degree relative with NF2.
  3. First-degree relative with NF2 and 2/4 of the following:
    1. Meningioma (meningothelial meningioma).[4]
    2. Glioma.
    3. Schwannoma.
    4. Juvenile cataract.

See also

References

  1. ↑ URL: http://emedicine.medscape.com/article/1177266-overview. Accessed on: 3 May 2010.
  2. ↑ URL: http://www.paeds.co.uk/wiki/index.php?title=Mnemonics#Neurofibromatosis_Type_1_diagnostic_criteria. Accessed on: 30 May 2011.
  3. ↑ URL: http://emedicine.medscape.com/article/1178283-overview. Accessed on: 3 May 2010.
  4. ↑ URL: http://moon.ouhsc.edu/kfung/jty1/neurotest/Q13-Ans.htm. Accessed on: 26 October 2010.
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