Tuberous Sclerosis

Tuberous sclerosis is a rare genetic disorder that causes tumors to grow in various organs of the body, such as the brain, skin, heart, eyes, kidneys, and lungs. Almost all of these tumors are benign (not cancerous), but they can cause health problems. The condition varies wildly. For some children, the disease will be mild, while for others it may have life-threatening complications.

Click here to learn more about our Tuberous Sclerosis (TSC) Clinic.

Symptoms

Tuberous sclerosis is a result of either a mutation associated with TSC1 or TSC2 gene or inheritance of an altered TSC1 or TSC2 gene from a parent who has the disorder.

Symptoms are different for each person and can range from mild to severe, depending on the size and/or location of the tumor in the body. Symptoms may include:

Skin abnormalities
Seizures
Cognitive disabilities
Behavioral problems
Kidney problems
Heart issues
Lung problems
Eye abnormalities

Diagnosis

To diagnose your child’s condition and determine the severity of the disease, the following exams may be requested:

MRI
Echocardiogram
Ultrasound of the kidneys
Chest X-ray
Genetic testing to look for a TSC-related gene change