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Difference between revisions of "Tuberous sclerosis"
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→Associations: IHC tuber
Jensflorian (talk | contribs) (→Associations: TSC2 and tubers) |
Jensflorian (talk | contribs) (→Associations: IHC tuber) |
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**Gyrus is usu. thickened, raised, and occasionally dimpled. | **Gyrus is usu. thickened, raised, and occasionally dimpled. | ||
**Giant cells, dysmorphic neurons, disrupted cortical lamination, gliosis, calcifications. | **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> | **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). | **DD: Focal cortical dysplasia ILAE type IIB (Tubers are usu. multifocal). | ||