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. In addition to the benign tumors
that frequently occur in TSC, other common symptoms include seizures, mental retardation,
behavior problems, and skin abnormalities. TSC may be present at birth, but signs
of the disorder can be subtle and full symptoms may take some time to develop. 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); and giant-cell astrocytomas,
a type of tumor that can block the flow of fluids within the brain.
There is no cure for TSC, although treatment is available for a number of the symptoms.
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. Impact on your Health
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.