Difference between revisions of "Tuberous sclerosis"

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→‎Associations: Tubers moved into separate page
(graphical scheme added)
(→‎Associations: Tubers moved into separate page)
 
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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).<ref>{{Cite journal  | last1 = Cotter | first1 = JA. | title = An update on the central nervous system manifestations of tuberous sclerosis complex. | journal = Acta Neuropathol | volume =  | issue =  | pages =  | month = Apr | year = 2019 | doi = 10.1007/s00401-019-02003-1 | PMID = 30976976 }}</ref>
*[[Cortical tuber]]s (malformative, epilepsy-associated).<ref>{{Cite journal  | last1 = Cotter | first1 = JA. | title = An update on the central nervous system manifestations of tuberous sclerosis complex. | journal = Acta Neuropathol | volume =  | issue =  | pages =  | month = Apr | year = 2019 | doi = 10.1007/s00401-019-02003-1 | PMID = 30976976 }}</ref>
**Seen in 80-90% of the cases.
 
**Gyrus is usu. thickened, raised, and occasionally dimpled.
**Giant cells, dysmorphic neurons, disrupted cortical lamination, gliosis, calcifications.
**Ballon cells are Vim+ve, MAP2+ve, Nestin+ve, GFAP+/-ve, NeuN+/-ve.
**TSC2 has larger and more numerous tubers.<ref>{{Cite journal  | last1 = Overwater | first1 = IE. | last2 = Swenker | first2 = R. | last3 = van der Ende | first3 = EL. | last4 = Hanemaayer | first4 = KB. | last5 = Hoogeveen-Westerveld | first5 = M. | last6 = van Eeghen | first6 = AM. | last7 = Lequin | first7 = MH. | last8 = van den Ouweland | first8 = AM. | last9 = Moll | first9 = HA. | title = Genotype and brain pathology phenotype in children with tuberous sclerosis complex. | journal = Eur J Hum Genet | volume = 24 | issue = 12 | pages = 1688-1695 | month = 12 | year = 2016 | doi = 10.1038/ejhg.2016.85 | PMID = 27406250 }}</ref>
**DD: Focal cortical dysplasia ILAE type IIB (Tubers are usu. multifocal).


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