Tuberous Sclerosis Complex
Make Appointments & Get Care
What Is Tuberous Sclerosis Complex?
Tuberous Sclerosis Complex (TSC) is a genetic disorder that causes non-cancerous tumors to grow in different parts of the body, including the brain, eyes, heart, kidney, skin, and lungs. TSC can affect children and adults, and symptoms can range from mild to serious. Because TSC can impact several body systems, coordinated care and monitoring are important for long-term health.
What Are the Symptoms of Tuberous Sclerosis Complex?
Tuberous Sclerosis symptoms in children and adults will vary based on the location of the tumors, which can damage nearby body parts.
Many individuals with TSC are impacted by epilepsy and TSC-associated neuropsychiatric disorders (also referred to as TAND). TAND may include:
- Developmental delay
- Learning differences
- Anxiety
- Depression
- Attention-Deficit/Hyperactivity Disorder (ADHD)
- Autism Spectrum Disorder
What Causes Tuberous Sclerosis Complex?
TSC is caused by a change in either the TSC1 gene on chromosome 9 or the TSC2 gene on chromosome 16.
TSC is an autosomal dominant genetic disorder. An autosomal dominant condition means that a change in just one copy of the gene can cause TSC, meaning a child of a TSC-adult has a 50% chance of having TSC.
The change in the gene can be:
- Sporadic—it happens randomly
- Inherited—it is passed on from a mother or father to the child
UR Medicine's Treatments for Tuberous Sclerosis Complex
The University of Rochester Tuberous Sclerosis Clinic offers comprehensive and multi-system care for children and adults with TSC. We strive to provide coordinated care for families with multiple individuals affected by TSC.
We offer the following services:
- Clinical consultation and long-term care for TSC
- Genetic testing and genetic counseling
- Epilepsy management, including evaluations for epilepsy surgery
- TAND management
- Coordination of surveillance imaging
- Education about TSC
In addition to Neurology, the following departments offer TSC-related specialty care:
What Sets Us Apart?
UR Medicine offers the only formally recognized Tuberous Sclerosis Complex (TSC) Clinic in Western New York. We provide coordinated lifelong care for children and adults with TSC.
We offer:
- Care across the lifespan, including prenatal consultations, pediatric care, and long-term support for adults.
- Coordinated visits for families, when more than one person is affected by TSC.
- Access to leading research and new treatments through our academic medical center.
Because this condition can affect many parts of the body, we bring together specialists in neurology, nephrology, dermatology, cardiology, pulmonology, ophthalmology, developmental pediatrics, and neuropsychology—all working closely to support your health.
Contact Us
We offer Tuberous Sclerosis Complex care to patients of all ages. All TSC referrals, including pediatric and adult, are handled through the pediatric neurology office. Connect with our clinic regardless of your age.
Note: The e-mail address above is intended for communication regarding referrals and is not routinely monitored. It should NOT be used for medical concerns.
Providers
- Daniel Brennsteiner, MS, MPH
Genetic Counselor - Jared Hammond, PsyD
Neuropsychologist - Marianna Pereira-Freitas, BA
Research Coordinator - Mandy Thompson, RN
Nurse Navigator
Locations
View All LocationsWe serve you in the Rochester metropolitan area and surrounding region.
View All Locations2 locations
Clinton Crossings, Building D
4901 Lac De Ville Boulevard, Suite 120
Rochester, NY 14618
200 East River Road, 3rd Floor
Rochester, NY 14623
Patient Education & Support
New Patients Referral Process
- Patients and Families of individuals diagnosed with Tuberous Sclerosis who would like to be followed in our Tuberous Sclerosis Clinic can request a referral from their primary care doctor and have their information faxed to the Pediatric Neurology office at (585) 275-3683. In addition, the patient or family member may call our office at (585) 275-2808 to let us know that a referral is being requested so we can follow-up in a timely manner.
- Healthcare Providers may fax referral information to the Pediatric Neurology office at (585) 275-3683. Please note on the referral that the evaluation is being requested for Tuberous Sclerosis. The age of the patient will determine which provider they get scheduled with. If there are urgent concerns about a patient in your care, please call our office at (585) 275-2808.
Current Patients
Please contact our Nurse Navigator (Mandy Thompson) at (585) 275-0589 with questions about scheduling.