Cortical tuber

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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.[1]
  • Seen in 80-90% of the TSC cases.
  • Gyrus is usu. thickened, raised, and occasionally dimpled.
  • Giant cells, dysmorphic neurons, gliosis, calcifications.
  • Prominent cell loss in all cortical layers.[2]
  • Normal cortical lamination is lost in the lesion.
  • TSC2 has larger and more numerous tubers.[3]

IHC

  • Ballon cells are Vim+ve, MAP2+ve, Nestin+ve, GFAP+/-ve, NeuN+/-ve.

Imaging

Examples on Radiopedia [[1]]

DDx

See also

Tuberous sclerosis

References

  1. Cotter, JA. (Apr 2019). "An update on the central nervous system manifestations of tuberous sclerosis complex.". Acta Neuropathol. doi:10.1007/s00401-019-02003-1. PMID 30976976.
  2. Mühlebner, A.; Iyer, AM.; van Scheppingen, J.; Anink, JJ.; Jansen, FE.; Veersema, TJ.; Braun, KP.; Spliet, WG. et al. (2016). "Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis omplex (TSC): evidence from layer-specific marker expression.". J Neurodev Disord 8: 9. doi:10.1186/s11689-016-9142-0. PMID 27042238.
  3. Overwater, IE.; Swenker, R.; van der Ende, EL.; Hanemaayer, KB.; Hoogeveen-Westerveld, M.; van Eeghen, AM.; Lequin, MH.; van den Ouweland, AM. et al. (12 2016). "Genotype and brain pathology phenotype in children with tuberous sclerosis complex.". Eur J Hum Genet 24 (12): 1688-1695. doi:10.1038/ejhg.2016.85. PMID 27406250.