Expert diagnosis
Because symptoms can be mild and the condition itself is rare, tuberous sclerosis can go undetected or misdiagnosed for many years. For this reason, it is important to see clinicians who are experts in tuberous sclerosis, also known as tuberous sclerosis complex (TSC).
The Tuberous Sclerosis Clinic provides a comprehensive diagnostic evaluation for TSC, including history, physical exam, laboratory testing, and radiographic studies.
Dedicated focus
Our clinic is one of about 50 tuberous sclerosis complex clinics in the U.S. dedicated to the care of individuals with TSC. Because tuberous sclerosis is a complex disease, focused health care management and treatment is essential.
Team approach
Because of the variety of symptoms and organs involved with tuberous sclerosis, the Tuberous Sclerosis Clinic uses a multidisciplinary, team approach. Our center includes:
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Cardiology, for noncancerous tumors (such as rhabdomyoma) that grow in the heart
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Dermatology, for skin changes such as ash leaf spots, Shagreen patch or angiofibromas
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Nephrology, for symptoms related to the kidneys, including kidney disease, renal cysts and renal angiomyolipoma
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Neurology, to address seizures, developmental delays and autism
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Ophthalmology, for eye issues such as noncancerous tumors of the retina or optic nerve known as hamartomas
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Psychology, including neuropsychology for behavioral testing
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Pulmonology, for lymphangioleiomyomatosis (LAM) and pulmonary cysts
Genetic counseling
Since tuberous sclerosis is a genetic disease, meeting with a genetic counselor can be helpful. Many children born with tuberous sclerosis are the first cases in a family. Still, parents of a child with TSC may have subtle symptoms of the disorder and should be carefully examined. Even if no symptoms are present, parents are at a slightly increased risk to have another child with TSC
Ongoing care management
We coordinate follow-up care for ongoing medical issues, involving multiple medical specialties. We also follow recommended guidelines for scheduled radiographic screening for TSC-related tumors to ensure that we are closely monitoring for potential growth or other changes.
Seizure management
Early treatment to decrease seizures is critical in young children. Seizure control can help children overcome some developmental delays. Our clinic works with epilepsy specialists at St. Louis Children’s Hospital. Our seizure specialists offer the latest therapies for monitoring seizures (including digital video-EEG) and treating intractable epilepsy and infantile spasms.
Education and support
Our team understands the importance of developing social support when living with TSC. We partner with the TS Alliance to help patients and families connect. In addition, we provide children with behavioral management and other techniques to help them succeed in school settings.
Clinical trials and other research
Through the Washington University Tuberous Sclerosis Center, the clinic participates in basic (lab) research on what causes TSC and how symptoms show up in patients in order to develop better therapies. The clinic also offers patients the option of participating in clinical trials of potential new therapies for tuberous sclerosis.
