Difference between revisions of "Cortical tuber"

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[[Image:Tuber HE 20191014 011.jpg|thumb|right|[[Micrograph]] showing a cortical tuber. [[H&E stain]]. (WC/~~KGH)~~]]

[[Image:Tuber HE 20191014 011.jpg|thumb|right|[[Micrograph]] showing a cortical tuber. [[H&E stain]]. (WC/jensflorian]]

'''Cortical tubers''' are malformative lesions in the CNS observed in '''tuberous sclerosis complex''' (abbreviated '''TSC'''), an autosomal dominant [[syndrome]].

==General==

*Cortical tubers are 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 TSC 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>

==~~Associations~~==

==DDx==

* Focal cortical dysplasia ILAE type IIB (Tubers are usu. multifocal).

~~==Incidence==~~

~~~1 in 10,000 population.<ref name=emed_ts>URL: [http://emedicine.medscape.com/article/1177711-overview http://emedicine.medscape~~.~~com/article/1177711-overview]~~. ~~Accessed~~

==See also==

*

[[Tuberous sclerosis]]

==References==

[[Category:~~Syndromes~~]]

[[Category:Malformation]]

[[Category:Neuropathology]]

Difference between revisions of "Cortical tuber"

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@@ Line 1: / Line 1: @@
-[[Image:Tuber HE 20191014 011.jpg|thumb|right|[[Micrograph]] showing a cortical tuber. [[H&E stain]]. (WC/KGH)]]
+[[Image:Tuber HE 20191014 011.jpg|thumb|right|[[Micrograph]] showing a cortical tuber. [[H&E stain]]. (WC/jensflorian]]
 '''Cortical tubers''' are malformative lesions in the CNS observed in '''tuberous sclerosis complex''' (abbreviated '''TSC'''), an autosomal dominant [[syndrome]].
 ==General==
+*Cortical tubers are 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 TSC 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>
-==Associations==
+==DDx==
+* Focal cortical dysplasia ILAE type IIB (Tubers are usu. multifocal).
-==Incidence==
-~1 in 10,000 population.<ref name=emed_ts>URL: [http://emedicine.medscape.com/article/1177711-overview http://emedicine.medscape.com/article/1177711-overview]. Accessed
 ==See also==
-*
+[[Tuberous sclerosis]]
 ==References==
 {{reflist|2}}
-[[Category:Syndromes]]
+[[Category:Malformation]]
 [[Category:Neuropathology]]