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Difference between revisions of "Cortical tuber"
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→General: Cell loss
Jensflorian (talk | contribs) (→General: IHC) |
Jensflorian (talk | contribs) (→General: Cell loss) |
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*Seen in 80-90% of the TSC cases. | *Seen in 80-90% of the TSC cases. | ||
*Gyrus is usu. thickened, raised, and occasionally dimpled. | *Gyrus is usu. thickened, raised, and occasionally dimpled. | ||
*Giant cells, dysmorphic neurons | *Giant cells, dysmorphic neurons, gliosis, calcifications. | ||
*Prominent cell loss in all cortical layers.<ref>{{Cite journal | last1 = Mühlebner | first1 = A. | last2 = Iyer | first2 = AM. | last3 = van Scheppingen | first3 = J. | last4 = Anink | first4 = JJ. | last5 = Jansen | first5 = FE. | last6 = Veersema | first6 = TJ. | last7 = Braun | first7 = KP. | last8 = Spliet | first8 = WG. | last9 = van Hecke | first9 = W. | title = Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis omplex (TSC): evidence from layer-specific marker expression. | journal = J Neurodev Disord | volume = 8 | issue = | pages = 9 | month = | year = 2016 | doi = 10.1186/s11689-016-9142-0 | PMID = 27042238 }}</ref> | |||
*Normal cortical lamination is lost in the lesion. | *Normal cortical lamination is lost in the lesion. | ||
*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> | *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> | ||