Tuberous Sclerosis

Tuberous Sclerosis (also known as Tuberous Sclerosis Complex, or TSC) is a rare, multi-system 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 usually affects the central nervous system and can result in a combination of symptoms including seizures, developmental delay, behavioral problems, skin abnormalities, and kidney disease.

Symptoms and Signs

TSC is typically diagnosed in infancy or childhood. The most common symptom is seizures, which in some cases begin in the first year of life. Other symptoms can include developmental delay, behavioral problems, skin abnormalities, and kidney disease. The severity of the symptoms can vary widely in different patients, even among individuals in the same family.

Causes

TSC is caused by mutations in one of two genes, TSC1 or TSC2, which encode for the proteins hamartin and tuberin respectively. These proteins act as tumor growth suppressors, and mutations in these genes lead to uncontrolled cell growth and the formation of tumors.

Diagnosis

Diagnosis of TSC is based on a clinical evaluation, a detailed patient history, and a variety of specialized tests. These tests can include magnetic resonance imaging (MRI), computed tomography (CT) scan, ultrasound, and genetic testing.

Treatment

There is currently no cure for TSC, but treatments are available to manage the symptoms. These can include medications to control seizures, special educational programs for developmental delays, and surgery to remove tumors.

See Also

• Genetic disorders
• Benign tumors
• Seizures

References

Tuberous Sclerosis Resources
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