Epilepsy Tuberous Sclerosis Clinic

Tuberous sclerosis complex (TSC) is a genetic disorder that can lead to the formation of benign tumor-like lesions in organs throughout the body. These primarily include the brain, eyes, heart, kidneys, lungs, oral cavity and skin. TSC affects each person differently with some people having more manifestations than others. Some manifestations of TSC may appear at birth while others may not appear until a child is older.

TSC affects about 1 million people worldwide and occurs in about 1 in every 6,000 births. TSC can occur in any individual regardless of their background or gender. 

TSC is a genetic disease that can be inherited from one parent with TSC or can result from a spontaneous genetic mutation. TSC is an autosomal dominant genetic condition, which means that children have a 50% chance of inheriting TSC if one of their parents has the condition. Researchers estimate that only one-third of TSC cases are known to be inherited while the other two-thirds result from a random and unpredictable mutation. 

TSC can be diagnosed at various points in a person’s life.  

Prenatal diagnosis is possible through fetal ultrasound, especially if benign heart tumors are detected.  

Many cases are diagnosed within the first year of life, often due to the presence of skin lesions, such as hypomelanotic macules or facial angiofibromas. Sometimes seizures are the first noted symptom. 

The diagnosis can occur later in childhood if the symptoms develop more gradually, such as developmental delays or learning disabilities. 

Finally, in some milder cases, TSC may not be diagnosed until adolescence or even adulthood. 

Every child’s TSC clinical findings can vary and present differently. Several organ systems can be affected to varying degrees.

Seizures & Epilepsy

Seizures are reported in up to 80% of patients with TSC, with focal seizures being the most common seizure type. Epilepsy in tuberous sclerosis is due to structural (tubers) and genetic etiology. 

Infantile Spasms

Infantile spasms are a specific type of seizure seen in infancy and is seen in 30% of patients with TSC. 

Brain Findings

Brain abnormalities seen in TSC on MRI include cortical tubers, subependymal nodules, and subependymal giant cell astrocytoma (SEGA). 

Renal (Kidney) Symptoms

Kidney cysts are the most common renal manifestation of TSC, and renal angiomyolipomas which are fat containing non-cancerous tumors are seen specifically in this condition.

Skin Symptoms

• Hypopigmented macules - white "birthmarks” on the face and body 
• Shagreen patch - patch of skin that is tough or dimpled similar to that of an orange peel
• Facial angiofibroma - small red bumps or spot noted across nose, cheeks, chin

Heart Symptoms

• Cardiac rhabdomyomas - Benign tumors that grows in clusters in the heart; these are seen usually in the newborn period and regress thereafter

Eye Symptoms

• Retinal hamartomas - Nearly 50% of TSC patients have this involvement in one or both eyes, but vision loss is uncommon

Development & Behavioral Symptoms

TSC-Associated Neuropsychiatric Disorders (TAND) includes a range of behavioral, intellectual, academic and psychiatric difficulties associated with TSC. 

• Autism Spectrum disorder (ASD) is a common neuropsychiatric manifestation of TSC. 
• Neuropsychiatric conditions: TSC is also associated with attention deficit hyperactivity disorder (ADHD), tic disorder, obsessive-compulsive disorder (OCD) and anxiety. 
• Behavioral dysregulation, sleep dysregulation and aggressive behavior is also seen in some patients. 
• Intellectual: TSC can impact intellectual functioning and can be a cause of a range of disabilities affecting academic performance including specific learning disabilities, reasoning and problem-solving, and deficits with social communication and executive functions, such as planning and organization and memory. 

Currently, there is no known cure for TSC. Surveillance guidelines published by the TSC alliance and standard of care treatments are reviewed and tailored for each individual patent. Some treatment options for children with seizures include medications (anti-seizure medications, mTOR inhibitors), the ketogenic diet, epilepsy surgery, and neuromodulation.

Diagnostic Tests & Surveillance Imaging/Procedures

• Electroencephalogram (EEG) to record electrical activity in the brain. 
• Magnetic resonance imaging (MRI), a computerized tomography (CT) scan and/or ultrasound to locate any abnormal growths. 
• Echocardiogram to view images of the heart and an Electrocardiogram (ECG or EKG) to monitor electrical activity of the heart. 
• Blood work for genetic testing to identify gene mutations linked with tuberous sclerosis. 

Lurie Children’s is a clinical trial site for the TSC-STEPS study to learn more about a drug known as Sirolimus. Learn more about the study. 

Our Recent Publications 

• Dr. Joyce Wu’s list of recent publications
• Dr. Priyamvada Tatachar’s list of recent publications

• Tuberous Sclerosis Alliance
• Danny Did Foundation 
• Make-A-Wish Foundation