Tuberous Sclerosis Complex (TSC) is a genetic condition with a spectrum of clinical expressions. It commonly presents with epilepsy, autism or developmental delay, and skin birthmarks in early childhood. Sometimes, during adolescent years, skin lesions resembling severe acne may be the presenting feature.
Other organs like the heart and lungs may be involved during early or late life, presenting as heart failure, conduction abnormalities, palpitations and breathlessness. Later in life, TSC can make its mark with kidney tumors and kidney failure. Patients with a mild form of the disease may remain undiagnosed - and family members unaware of their genetic risks – until later in life when TSC may attack vital organs.
Epilepsy is usually the first and most common symptom of brain involvement in patients with TSC. Early and aggressive treatment of the epilepsy is essential to improving the cognitive outcome, as well as the quality of life, as has been shown in various studies from our and other centers. When medical treatment fails, evaluation for the possibility of epilepsy surgery should be considered early in every patient with TSC.
Multiple tubers appear as "cold" on Brain PET. This technique is useful for evaluation for epilepsy surgery.
The challenges of epilepsy surgery in a patient with TSC are more complex, but not insurmountable, in the hands of experienced epilepsy specialists and surgeons working as a team. At the Cleveland Clinic Epilepsy Center, we have established a multi-disciplinary team of dedicated pediatric and adult epilepsy specialists, neurosurgeons, neuropsychologists, neuroradiologists, functional neuroimaging experts, cognitive and behavior experts, health psychologists and bioethicists to administer epilepsy care to TSC patients. The team meets on a weekly basis to discuss the best individualized plan of care for patients with complex epilepsy.
Outside of a focused TSC program, fragmented care could come from all directions. Managing a multi-organ dysfunction, follow up screening, early intervention, treatment, and counseling is challenging for the patient as well as the individual physicians seeing patients in different settings.
Instead, these responsibilities can be delegated to the TSC program, where a dedicated team of specialized physicians in one tertiary care center share the medical information of a patient through electronic medical records, and provide individualized care through a specialized team approach. With this coordination, the program delivers seamless care to patients and their families.
There is no cure for TSC. But when we deliver care to patients via our TSC Program, we coordinate services that accommodate their ongoing needs from a staff of professionals who understand the condition. The Cleveland Clinic TSC Program will collaborate with the referring physicians, depending on the patient and family needs, and can serve as an expert and consultative arm while ongoing care is continued locally.
Continuing care from experts who understand Tuberous Sclerosis is the key to successfully managing the condition, mitigating its complications, and providing the best life possible to each individual and family with TSC.
Patients referred to the Cleveland Clinic TSC Program are in skilled hands with professionals who focus on:
Physicians in the Tuberous Sclerosis program are at the leading edge of TSC treatment and are committed to research and education to improve the lives of patients and families with TSC. But many questions about the disorder are still unexplained. What determines epileptogenicity in tubers? What are the best medical or surgical approaches to treat brain, eye, and kidney disease? What is the cause of the spontaneous genetic mutation that produces TSC?
The Cleveland Clinic TSC Program is charged with finding these answers through research initiatives.
Toll free: 800.CCF.CARE, extension 5TSC6 (58726)
Direct line: 216.445.8726
New appointments with various specialties related to TSC clinic could be coordinated through this phone number. If you are traveling from long distance, our team will arrange for all of your visits to take place over a 1–2 day period for your convenience.
Our team will collaborate with your local physician and keep them updated on you or your family members.
For Referring Physicians
For questions about the TSC program contact:
Ajay Gupta, MD
216.445.7728 or toll free at 1.800.223.2273 X57728