tuberous sclerosis

Dayton Children's team of pediatric experts partner with the Tuberous Sclerosis (TS) Alliance to provide multidisciplinary care. TS is cared for in our TS Alliance-designated neurocutaneous clinic. In this clinic providers from neurology, neurosurgery, hematology-oncology, genetics and many other specialities work together to care for patients. Our patients are also able to see an ophthalmologist on the same day of their visit. Our multidisciplinary team provides state-of-the-art care for diagnosis of TSC as well as management of the different symptoms. We also help set up screening for the different signs of TS, as per the standard guidelines.

Our patients and their families are also supported by two social workers and a school nurse liaison. The school nurse liaison works with the child's school system providing seizure education, identifying the academic needs of the child and aligning the medical and educational aspects of the child's care.

Children's Brain Tumor Tissue Consortium

Dayton Children's Hospital has joined with Children's Brain Tumor Tissue Consortium to launch a first-of-its-kind Pediatric Brain Tumor Atlas.

Dayton Children's Hospital is working to further research efforts that may one day lead to better treatment and cures for TS.

Dayton Children's neurosurgeon, Dr. Robert Lober, is one of a very few researchers practicing advanced research technology by operating a live tumor bank. "The tumors that we remove are grown in a dish so that one tumor can become 100 tumors that can be shared with reseachers all over the world."

what is tuberous sclerosis?

Tuberous sclerosis, or tuberous sclerosis complex (TSC), is a rare genetic disease. It is caused by a gene mutation that causes tubers (benign tumors) to grow in different areas of the body, such as the brain, kidneys, heart and skin. Because of the many areas of the body that are affected by this disease, many patients can go misdiagnosed for several years. TSC affects 1 to 2 million people worldwide, and 25,000 - 40,000 within the United States. It is estimated that TSC affects 1 in 6,000 newborns.

what causes tuberous sclerosis complex?

TSC is caused by changes in either the TSC1 or the TSC2 gene. These genes help the body to control cell and tissue growth. The mutations in the gene lead to uncontrolled cell growth, and development of the tubers.

is tuberous sclerosis passed from a parent?

Because TSC is a genetic disease, it is possible that parents with the diease can pass the gene mutations to their children. If one parent has the gene mutation, then there is a 50% chance that their child will have it as well. There is no way to predict how mildly or severely the mutations might affect the child. If someone with TSC wants to have children, it is recommended they meet with a genetic counsellor to talk about their risk and options.

Often in patients diagnosed with TSC, there is no family history of the disease. With the TSC gene, there is a high rate of spontaneous mutation. This means that the gene changes on its own, and the change didn't come from a parent.

what are the signs and symptoms of tuberous sclerosis?

Symptoms depend on what part of the body is affected by the tubers. The most common systems affected by tubers are the brain, heart, kidney, lungs, eyes and skin.

One-half to two thirds of patients with TSC have some form of developmental delays. These can range from mild learning disabilities to severe developmental delays. About one third of children with TSC show characteristics of autism. Many children also have behavioral issues such as:

how will providers diagnose TSC?

Providers diagnose a patient with TSC based on their clinical findings. They often first start to look for TSC in infants and children with seizures, developmental delays, cardiac rhabdomyomas or skin lesions. Genetic testing helps to confirm the diagnosis of TSC. Tests or scans can also help diagnose TSC.

what tests are used to diagnose TSC?

what doctor treats tuberous sclerosis?

Depending on your child's signs and symptoms, he or she may be evaluated by several different specialists. They could include doctors trained to treat problems of the brain (neurologist), heart (cardiologist), eyes (ophthalmologist), skin (dermatologist), kidneys (nephrologist), and others.

what is the life expectancy of someone with tuberous sclerosis?

It can vary based on the patient, and depends on the severity of their disorder. Many patients with TSC live normally and have a normal life expectancy. All patients with TSC should follow up regularly with their providers to watch for any new symptoms or appearance of new tubers of lesions. Untreated and unnoticed tubers can lead to complications and even death.

 

contact us appointments

The neurology department welcomes phone calls to 937- 641-3080 during our normal business hours of 8:00 am to 5:00 pm.

A physician referral is necessary prior to the child’s first outpatient visit. All follow up appointments will be made during your clinic visit or by calling central scheduling 937-641-4000.


Source URL: https://www.childrensdayton.org/patients-visitors/services/neurology/services-and-programs/tuberous-sclerosis