Difference between revisions of "Neurofibromatosis"

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Neurofibromatosis (view source)

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[[Category:Neuropathology]]
[[Category:Neuropathology]]
[[Category:Syndromes]]
Features (need 2/7 to diagnose):<ref>URL: [http://emedicine.medscape.com/article/1177266-overview http://emedicine.medscape.com/article/1177266-overview]. Accessed on: 3 May 2010.</ref>
#Two or more [[neurofibroma]]s 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====
Diagnostic criteria ''CAFE SPOT'':<ref>URL: [http://www.paeds.co.uk/wiki/index.php?title=Mnemonics#Neurofibromatosis_Type_1_diagnostic_criteria http://www.paeds.co.uk/wiki/index.php?title=Mnemonics#Neurofibromatosis_Type_1_diagnostic_criteria]. Accessed on: 30 May 2011.</ref>
* '''C'''afé-au-lait spots.
* '''A'''xillary or inguinal freckling.
* neuro'''F'''ibroma (two or more) ''or'' plexiform neurofibroma (one).
* '''E'''ye hamartomas (Lisch nodules).
* '''S'''keletal abnormalities, e.g. ''s''phenoid dysplasia, leg bowing.
* '''P'''ositive family history. †
* '''O'''ptic '''T'''umour (optic nerve glioma).
Note:
* † One could include ''paraganglioma'' here.
===Images===
<gallery>
File:Early_neurofibromatosis.jpg | Café-au-lait spot (WC/Haymanj)
File:NF-1-Tache_cafe-au-lait.jpg | Café-au-lait spot (WC/Accrochoc)
File:Lisch_nodules.gif | Lisch nodule (iris hamartoma) in the eye (WC/filip em)
File:Neurofibroma03.jpg | Multiple neurofibromas of the skin in NF1 (WC/Enigma51)
File:Neurofibroma02.jpg | Multiple neurofibromas of the skin in NF1 (WC/Enigma51)
File:Neurofibroma_large_NF1.jpg | Large neurofibroma in a NF1 case (WC/jensflorian)
File:Neurofibromatosis,_bowel.jpg | Neurofibromatosis in the bowel (WC/Dr. Robertson)
File:MPNST Pathology gross.jpg | Malignant peripheral nerve sheath tumor of the forearm (WC/drbloodmoney)
</gallery>
===Others===
*[[Pancreatic neuroendocrine tumour]].<ref name=pmid15249710>{{Cite journal  | last1 = Alexakis | first1 = N. | last2 = Connor | first2 = S. | last3 = Ghaneh | first3 = P. | last4 = Lombard | first4 = M. | last5 = Smart | first5 = HL. | last6 = Evans | first6 = J. | last7 = Hughes | first7 = M. | last8 = Garvey | first8 = CJ. | last9 = Vora | first9 = J. | title = Hereditary pancreatic endocrine tumours. | journal = Pancreatology | volume = 4 | issue = 5 | pages = 417-33; discussion 434-5 | month =  | year = 2004 | doi = 10.1159/000079616 | PMID = 15249710 }}</ref>
*[[Gastrointestinal stromal tumour]].<ref name=pmid20848108>{{cite journal |author=Agaimy A, Hartmann A |title=[Hereditary and non-hereditary syndromic gastointestinal stromal tumours] |language=German |journal=Pathologe |volume=31 |issue=6 |pages=430–7 |year=2010 |month=October |pmid=20848108 |doi=10.1007/s00292-010-1354-6 |url=}}</ref>
===Possible association===
*[[Gangliocytic paraganglioma]].<ref name=pmid12754392>{{Cite journal  | last1 = Castoldi | first1 = L. | last2 = De Rai | first2 = P. | last3 = Marini | first3 = A. | last4 = Ferrero | first4 = S. | last5 = De Luca | first5 = V. | last6 = Tiberio | first6 = G. | title = Neurofibromatosis-1 and Ampullary Gangliocytic Paraganglioma Causing Biliary and Pancreatic Obstruction. | journal = Int J Gastrointest Cancer | volume = 29 | issue = 2 | pages = 93-98 | month =  | year = 2001 | doi =  | PMID = 12754392 }}</ref>
==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>
#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).<ref>URL: [http://moon.ouhsc.edu/kfung/jty1/neurotest/Q13-Ans.htm http://moon.ouhsc.edu/kfung/jty1/neurotest/Q13-Ans.htm]. Accessed on: 26 October 2010.</ref>
## Glioma.
## [[Schwannoma]].
## Juvenile cataract.
Mnemonic ''MISME'':<ref>URL: [http://emedicine.medscape.com/article/342667-overview http://emedicine.medscape.com/article/342667-overview]. Accessed on: 20 February 2012.</ref>
*'''M'''ultiple '''I'''nherited [[schwannoma|'''S'''chwannomas]].
*[[meningioma|'''M'''eningiomas]].
*[[ependymoma|'''E'''pendymomas]].
Other:
*Cerebral microhamartomas.
*Schwannosis (Schwann cell proliferations).
*Peripheral neuropathy.
===Meningioangiomatosis===
*Cortical proliferations of meningeothelial cells around small vessels.
*May occur within NF2 and sporadic.
*Associated with seizures and/or headaches.
**Often asymptomatic.
<gallery>
File:Meningoangiomatosis low mag.jpg | Meningioangiomatosis, low mag. (WC/jensflorian)
File:Meningoangiomatosis higher mag.jpg | Meningioangiomatosis, higher mag.(WC/jensflorian)
</gallery>
==See also==
*[[Soft tissue lesions]].
*[[Neurocutaneous syndromes]].
*[[Berry aneurysm]].
==References==
{{reflist|2}}
[[Category:Weird stuff]]
[[Category:Syndromes]]
[[Category:Syndromes]]
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