Difference between revisions of "Neurofibromatosis"

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==Neurofibromatosis type 2==
==Neurofibromatosis type 2==
*Caused by mutations in the ''NF2 gene'';<ref name=omim101000>{{OMIM|101000}}</ref> this gene is also known as ''merlin''.<ref name=omim607379>{{OMIM|607379}}</ref>
===Diagnosis===
Features (need 1/3 to diagnose):<ref>URL: [http://emedicine.medscape.com/article/1178283-overview http://emedicine.medscape.com/article/1178283-overview]. Accessed on: 3 May 2010.</ref>
Features (need 1/3 to diagnose):<ref>URL: [http://emedicine.medscape.com/article/1178283-overview http://emedicine.medscape.com/article/1178283-overview]. Accessed on: 3 May 2010.</ref>
#Bilateral CNVIII masses on imaging.
#Bilateral CNVIII masses on imaging.
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*[[meningioma|'''M'''eningiomas]].  
*[[meningioma|'''M'''eningiomas]].  
*[[ependymoma|'''E'''pendymomas]].
*[[ependymoma|'''E'''pendymomas]].
Trivia:
*The gene implicated in neurofibromatosis type II is called ''NF2'';<ref name=omim101000>{{OMIM|101000}}</ref>  it is also known as ''merlin''.<ref name=omim607379>{{OMIM|607379}}</ref>


==See also==
==See also==

Revision as of 17:40, 24 March 2012

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

  • Autosomal dominant.

Diagnosis

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).

Possible association

Neurofibromatosis type 2

  • Caused by mutations in the NF2 gene;[4] this gene is also known as merlin.[5]

Diagnosis

Features (need 1/3 to diagnose):[6]

  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).[7]
    2. Glioma.
    3. Schwannoma.
    4. Juvenile cataract.

Mnemonic MISME:[8]

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. ↑ Castoldi, L.; De Rai, P.; Marini, A.; Ferrero, S.; De Luca, V.; Tiberio, G. (2001). "Neurofibromatosis-1 and Ampullary Gangliocytic Paraganglioma Causing Biliary and Pancreatic Obstruction.". Int J Gastrointest Cancer 29 (2): 93-98. PMID 12754392.
  4. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 101000
  5. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 607379
  6. ↑ URL: http://emedicine.medscape.com/article/1178283-overview. Accessed on: 3 May 2010.
  7. ↑ URL: http://moon.ouhsc.edu/kfung/jty1/neurotest/Q13-Ans.htm. Accessed on: 26 October 2010.
  8. ↑ URL: http://emedicine.medscape.com/article/342667-overview. Accessed on: 20 February 2012.
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