Tuberous Sclerosis - Sydney Cognitive Development Centre

What is Tuberous Sclerosis?
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.

Is there any treatment?
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.

What is the prognosis?
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.