tuberous sclerosis complex
Pronunciation: too-ber-us skler-OH-sis KOM-pleks
A genetic disorder causing benign tumor growth in multiple organs, commonly associated with epilepsy, autism, and cognitive impairment in children.
Full Definition
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by mutations in either the TSC1 or TSC2 genes, resulting in dysregulation of cell growth and proliferation. The condition affects multiple organ systems, causing benign tumor-like lesions called hamartomas in the brain, heart, kidneys, lungs, and skin. Neurologically, TSC is characterized by cortical tubers, subependymal nodules, and subependymal giant cell astrocytomas. Epilepsy occurs in 85-90% of patients, often beginning in infancy as epileptic spasms. Other common neurological features include autism spectrum disorders, intellectual disability, and behavioral problems. Skin manifestations include hypomelanotic macules, facial angiofibromas, and shagreen patches.
Usage
Usage note: Use 'complex' rather than just 'tuberous sclerosis' to reflect the multi-system nature. Abbreviate as TSC.
In Context
- "The patient's tuberous sclerosis complex was diagnosed following identification of cortical tubers and facial angiofibromas." — Clinical assessment
- "Vigabatrin is the preferred first-line treatment for infantile spasms in tuberous sclerosis complex." — Treatment guideline