Tuberous sclerosis (TSC) is a genetic condition that causes benign (noncancerous) tumors to grow in the brain and on other parts of the body, such as the skin, brain and kidneys.
What is Pediatric Tuberous Sclerosis (TSC)?
Also called tuberous sclerosis complex, tuberous sclerosis causes benign (noncancerous) tumors to grow in many parts of the body. This is a rare, genetic (present at birth) condition. In most cases, tuberous sclerosis is diagnosed shortly after birth or during childhood. In very mild cases, however, the condition can go undiagnosed until the individual is an adult.
The signs and symptoms of tuberous sclerosis vary — from patches of light-colored skin to seizures or behavior problems — depending on where the lesions develop. If lesions are in the brain, seizures are common. While there is no way too predict the course or severity of the disease, with appropriate treatment, many children who have tuberous sclerosis lead full, productive lives.
The Epilepsy Center at Children’s Health is the first program in the country to be certified by the Joint Commission, the nation’s preeminent standard-setting accrediting and certifying regulatory body in healthcare. We are also a Level 4 Epilepsy Center, providing the highest level of treatment for children with epilepsy. That means we have experience identifying Tuberous Sclerosis, and in researching the latest advances in treatment for the condition.
Our interdisciplinary medical team, which includes genetic counselors, has the experience to not only comprehensively diagnose children with this condition, but we remain the area’s only center to perform the most advanced procedures and therapies for the treatment of epilepsy.
Because this condition affects your child and your family, you will be glad to know we provide care for the whole family, including education and support. In addition, the Epilepsy Center works with referring physicians and area Emergency Departments to:
- Provide seizure safety education programs
- Expedite appointments in order to get your child evaluated quickly
What are the signs and symptoms of Pediatric Tuberous Sclerosis (TSC)?
The signs and symptoms that a child with this condition experience vary widely, based on where the tumors are and how severe the condition is. The hallmark of this condition is non-cancerous tumors or other lesions that grow throughout the body – most commonly in the brain, kidneys, heart, lungs and skin.
Other symptoms include:
- Behavior problems, such as hyperactivity, rage outburst or aggression
- Developmental delays, including intellectual disability or learning disabilities
- Eye problems, such as lesions on the retina (tissue at the back of the eye)
- Heart problems, such as lesions that usually shrink over time
- Kidney problems, such as lesions that eventually affect kidney function
- Lung problems, such as lesions that can cause shortness of breath or coughing
- Skin abnormalities, such as patches of light-colored skin, areas of thickened skin, or growths under or around the nails
How is Pediatric Tuberous Sclerosis (TSC) diagnosed?
To diagnose Tuberous Sclerosis, your child will likely be evaluated by several different specialists, including those trained to diagnose and treat problems of the brain (neurologist), heart (cardiologist), eyes (ophthalmologist), skin (dermatologist) and kidneys (nephrologist). These doctors will likely order a number of tests to diagnose tuberous sclerosis.
If your child has had seizures, testing may include an electroencephalogram (EEG) to determine where in the brain the seizures are coming from. An EEG is performed by placing electrodes on the scalp and recording the electrical activity of the brain.
What are the causes of Pediatric Tuberous Sclerosis (TSC)?
Tuberous Sclerosis is a rare genetic condition that happens before a child is born, and there is no known cause.
How is Pediatric Tuberous Sclerosis (TSC) treated?
Tuberous sclerosis is a lifelong condition that requires careful monitoring and follow-up. There is no cure for TSC, although treatment is available for a number of the symptoms, including medication management, intervention programs, school services, occupational therapy, and surgery for skin lesions. With appropriate treatment, many children can lead productive lives and enjoy a normal life expectancy.
If your child has seizures, it is important to begin the right treatment, as quickly as possible. Untreated epilepsy can increase your child’s risk of serious injury from seizures. Seizures can also put your child at social and academic disadvantage.
For most children with Tuberous Sclerosis, medication can control seizures. If seizures happen so often that they reduce your child’s quality of life, surgery may be necessary. Surgery can include removing the section of brain where seizures originate or implanting a small device that regulates electrical brain activity.