wiki pageCreated: 2026-04-02T07:20:12By: crosslink-migrationQuality:
50%✓ SciDEXID: wiki-diseases-tuberous-sclerosis
📖 Wiki Page
disease762 wordssynced 2026-04-02
Tuberous Sclerosis Complex
Overview
Tuberous sclerosis complex (TSC), also known as Bourneville disease, is a rare autosomal dominant genetic disorder characterized by the growth of numerous benign tumors throughout the body, including the brain, skin, kidneys, heart, and lungs[@northrup2021]. It affects approximately 1 in 6,000 to 1 in 10,000 live births and has a prevalence of about 1 in 20,000.
TSC results from mutations in the TSC1 or TSC2 genes, leading to dysregulated [mTOR](/mechanisms/mtor-signaling-pathway) (mammalian target of rapamycin) signaling and abnormal cell growth and proliferation[@henske2016].
Mutations in TSC2 account for approximately 70% of cases and typically cause a more severe phenotype. Approximately 15-20% of cases are caused by TSC1 mutations, while 10-15% have no identified mutation.
mTOR Pathway Dysregulation
The TSC1/TSC2 complex normally inhibits mTORC1 (mammalian target of rapamycin complex 1) signaling. Loss-of-function mutations lead to:
Constitutive mTORC1 activation
Uncontrolled cell growth and proliferation
Increased protein synthesis
Enhanced cell survival
Clinical Features
Neurological Manifestations
...
Tuberous Sclerosis Complex
Overview
Tuberous sclerosis complex (TSC), also known as Bourneville disease, is a rare autosomal dominant genetic disorder characterized by the growth of numerous benign tumors throughout the body, including the brain, skin, kidneys, heart, and lungs[@northrup2021]. It affects approximately 1 in 6,000 to 1 in 10,000 live births and has a prevalence of about 1 in 20,000.
TSC results from mutations in the TSC1 or TSC2 genes, leading to dysregulated [mTOR](/mechanisms/mtor-signaling-pathway) (mammalian target of rapamycin) signaling and abnormal cell growth and proliferation[@henske2016].
Mutations in TSC2 account for approximately 70% of cases and typically cause a more severe phenotype. Approximately 15-20% of cases are caused by TSC1 mutations, while 10-15% have no identified mutation.
mTOR Pathway Dysregulation
The TSC1/TSC2 complex normally inhibits mTORC1 (mammalian target of rapamycin complex 1) signaling. Loss-of-function mutations lead to:
Constitutive mTORC1 activation
Uncontrolled cell growth and proliferation
Increased protein synthesis
Enhanced cell survival
Clinical Features
Neurological Manifestations
Epilepsy
Occurs in 80-90% of individuals with TSC
Onset typically in first year of life
Infantile spasms are common
Often refractory to antiepileptic drugs
Consider surgical resection for drug-resistant cases
Cortical Dysplasia
Cortical tubers are hallmark brain lesions
Contribute to epilepsy and cognitive impairment
Number and location correlate with neurological outcomes
Intellectual Disability
Present in approximately 50% of cases
Range from normal intelligence to severe impairment
Correlates with epilepsy severity and number of cortical tubers