Tuberous sclerosis (TSC) is a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It commonly affects the central nervous system.
TSC may be present at birth, but signs of the disorder can be subtle and full symptoms may take some time to develop.
In addition to the benign tumors that frequently occur in TSC, other common symptoms include:
- Mental retardation
- Behavior problems
- Skin abnormalities
Three types of brain tumors are associated with TSC:
- Cortical tubers – which generally form on the surface of the brain
- Subependymal nodules – which form in the walls of the ventricles (the fluid-filled cavities of the brain)
- Giant-cell astrocytomas – a type of tumor that can block the flow of fluids within the brain
The prognosis for individuals with TSC depends on the severity of symptoms. Individuals with mild symptoms generally do well and live long productive lives, while individuals with the more severe form may have serious disabilities. In rare cases, seizures, infections, or tumors in vital organs such as the kidneys and brain can lead to severe complications and even death. However, with appropriate medical care, most individuals with the disorder can look forward to normal life expectancy.
There is no cure for TSC, although treatment is available for a number of the symptoms. The generic drug everolimus is approved to treat benign tumors called subependymal giant cell astrocytomas (SEGA) in individuals with tuberous sclerosis who require treatment but are not candidates for surgery. Antiepileptic drugs may be used to control seizures and medications may be prescribed for behavior problems. Intervention programs, including special schooling and occupational therapy, may benefit individuals with special needs and developmental issues. Surgery, including dermabrasion and laser treatment, may be useful for treatment of skin lesions. Because TSC is a lifelong condition, individuals need to be regularly monitored by a doctor. Due to the many varied symptoms of TSC, care by a clinician experienced with the disorder is recommended.