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Difference between revisions of "Tuberous sclerosis"
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link to consensus criteria, cortical tuber added
Jensflorian (talk | contribs) (link to consensus criteria, cortical tuber added) |
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#Mental retardation. | #Mental retardation. | ||
#Adenoma sebaceum ([[angiofibroma]]s). | #Adenoma sebaceum ([[angiofibroma]]s). | ||
Diagnostic consensus criteria [http://www.pedneur.com/article/S0887-8994%2813%2900490-6/pdf published] (2012, OpenAcess). | |||
Also called ''Bourneville-Pringle disease''. | |||
==General== | ==General== | ||
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*[[Tuberous sclerosis-associated renal cell carcinoma]] - an evolving entity.<ref name=pmid25093518/> | *[[Tuberous sclerosis-associated renal cell carcinoma]] - an evolving entity.<ref name=pmid25093518/> | ||
*[[Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis|Multifocal micronodular pneumocyte hyperplasia]]<ref name=pmid15841738>{{Cite journal | last1 = Kobayashi | first1 = T. | last2 = Satoh | first2 = K. | last3 = Ohkawa | first3 = M. | title = Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis. | journal = Acta Radiol | volume = 46 | issue = 1 | pages = 37-40 | month = Feb | year = 2005 | doi = | PMID = 15841738 }}</ref> - may mimic [[atypical adenomatous hyperplasia of the lung|atypical adenomatous hyperplasia]].<ref name=pmid18535095>{{Cite journal | last1 = Kobashi | first1 = Y. | last2 = Sugiu | first2 = T. | last3 = Mouri | first3 = K. | last4 = Irei | first4 = T. | last5 = Nakata | first5 = M. | last6 = Oka | first6 = M. | title = Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis: differentiation from multiple atypical adenomatous hyperplasia. | journal = Jpn J Clin Oncol | volume = 38 | issue = 6 | pages = 451-4 | month = Jun | year = 2008 | doi = 10.1093/jjco/hyn042 | PMID = 18535095 }}</ref> | *[[Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis|Multifocal micronodular pneumocyte hyperplasia]]<ref name=pmid15841738>{{Cite journal | last1 = Kobayashi | first1 = T. | last2 = Satoh | first2 = K. | last3 = Ohkawa | first3 = M. | title = Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis. | journal = Acta Radiol | volume = 46 | issue = 1 | pages = 37-40 | month = Feb | year = 2005 | doi = | PMID = 15841738 }}</ref> - may mimic [[atypical adenomatous hyperplasia of the lung|atypical adenomatous hyperplasia]].<ref name=pmid18535095>{{Cite journal | last1 = Kobashi | first1 = Y. | last2 = Sugiu | first2 = T. | last3 = Mouri | first3 = K. | last4 = Irei | first4 = T. | last5 = Nakata | first5 = M. | last6 = Oka | first6 = M. | title = Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis: differentiation from multiple atypical adenomatous hyperplasia. | journal = Jpn J Clin Oncol | volume = 38 | issue = 6 | pages = 451-4 | month = Jun | year = 2008 | doi = 10.1093/jjco/hyn042 | PMID = 18535095 }}</ref> | ||
*Cortical tubers (malformative, epilepsy-associated). | |||
** Seen in 90-100% of the cases. | |||
**Giant cells, dysmorphic neurons, disrupted cortical lamination, gliosis. | |||
Note: | Note: | ||
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[[Category:Syndromes]] | [[Category:Syndromes]] | ||
[[Category:Neuropathology]] | |||