Difference between revisions of "Neurofibromatosis"
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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 17:38, 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:
- Neurofibromatosis type 1 - NF1 (peripheral).
- Neurofibromatosis type 2 - NF2 (central).
Neurofibromatosis type 1
- Autosomal dominant.
Diagnosis
Features (need 2/7 to diagnose):[1]
- Two or more neurofibromas or one plexiform neurofibroma.
- May give rise to a malignant peripheral nerve sheath tumour.
- Café-au-lait spots.
- Freckles in axilla or inguinal area.
- Optic nerve glioma.
- Iris hamartomas (Lisch nodules).
- Sphenoid dysplasia or typical long-bone abnormalities (e.g. bowing).
- 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
Features (need 1/3 to diagnose):[4]
- Bilateral CNVIII masses on imaging.
- Unilateral CNVIII mass + first-degree relative with NF2.
- First-degree relative with NF2 and 2/4 of the following:
- Meningioma (meningothelial meningioma).[5]
- Glioma.
- Schwannoma.
- Juvenile cataract.
Mnemonic MISME:[6]
- Multiple Inherited Schwannomas.
- Meningiomas.
- Ependymomas.
Trivia:
See also
References
- ↑ URL: http://emedicine.medscape.com/article/1177266-overview. Accessed on: 3 May 2010.
- ↑ URL: http://www.paeds.co.uk/wiki/index.php?title=Mnemonics#Neurofibromatosis_Type_1_diagnostic_criteria. Accessed on: 30 May 2011.
- ↑ 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.
- ↑ URL: http://emedicine.medscape.com/article/1178283-overview. Accessed on: 3 May 2010.
- ↑ URL: http://moon.ouhsc.edu/kfung/jty1/neurotest/Q13-Ans.htm. Accessed on: 26 October 2010.
- ↑ URL: http://emedicine.medscape.com/article/342667-overview. Accessed on: 20 February 2012.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 101000
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 607379