Tuberous Sclerosis Complex

  • Tarik Tihan
  • Adekunle M. Adesina


Tuberous Sclerosis Complex is an autosomal dominant dysgenetic disorder characterized by hamartomas and neoplasms involving the CNS, as well as various other tissues. The causative mutations involve TSC 1 and TSC 2 genes located on 9q and 16p, respectively. The definitive diagnosis of TSC is established if at least one major and two minor criteria are present (see below).


Bourneville disease Hamartin Subependymal nodule TSC Tuberin Tuberous sclerosis Hamartia Subependymal giant cell astrocytoma 

Suggested Reading

  1. Short MP, Richardson EP Jr, Haines JL, Kwiatkowski DJ (1995) Clinical, neuropathological and genetic aspects of the tuberous sclerosis complex. Brain Pathol 5(2):173–179PubMedCrossRefGoogle Scholar
  2. Roach ES, Gomez MR, Northrup H (1998) Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 13(12):624–628PubMedCrossRefGoogle Scholar
  3. Christophe C, Sekhara T, Rypens F et al (2000) MRI spectrum of cortical malformations in tuberous sclerosis complex. Brain Dev 22(8):487–493PubMedCrossRefGoogle Scholar
  4. Hyman MH, Whittemore VH (2000) National Institutes of Health consensus conference: tuberous sclerosis complex. Arch Neurol 57(5):662–665PubMedCrossRefGoogle Scholar
  5. Marcotte L, Crino PB (2006) The neurobiology of the tuberous sclerosis complex. Neuromolecular Med 8(4):531–546PubMedCrossRefGoogle Scholar
  6. Schwartz RA, Fernandez G, Kotulska K, Jozwiak S (2007) Tuberous sclerosis complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol 57(2):189–202PubMedCrossRefGoogle Scholar
  7. Datta AN, Hahn CD, Sahin M (2008) Clinical presentation and diagnosis of tuberous sclerosis complex in infancy. J Child Neurol 23(3):268–273PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Tarik Tihan
    • 1
  • Adekunle M. Adesina
    • 2
  1. 1.Department of PathologyNeuropathology UnitSan FranciscoUSA
  2. 2.Section of Neuropathology and Molecular Neuropathology Laboratory, Department of PathologyTexas Children’s Hospital, Baylor College of MedicineHoustonUSA

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