TSC leads to growths, or noncancerous tumors, called “hamartomas.” Hamartomas can impact the function of the organ they are growing in. This impact will be based on the size of the growth and its location. Cancerous tumors are rare in TSC. TSC is unique for each person. It is difficult to predict who will develop growths and where they will occur. However, growths most commonly appear in a particular set of locations. These locations include: Because of all this variation, the spectrum of clinical features can also range from mild at one end to severe or prominent at the other. For this reason, the age at diagnosis may vary: Most patients with TSC will be diagnosed with other medical problems caused by the condition. Complications can include: TSC can cause serious or life-threating complications depending upon where the tumors grow and how big they are. For example: TSC is diagnosed on the basis of: Diagnosis can be confirmed in two ways. A variety of distinctive features can confirm TSC. These features include: These can appear as: Growths in the brain are detected with imaging studies such as brain MRI. They may include: Some people with TSC have normal development. However, typically, people with TSC have developmental delays or intellectual disability. Developmental delays are often seen in early childhood. They appear as delayed achievement of developmental milestones. Parents and teachers may also notice hyperactivity or behavioral problems in children with TSC. These are another common finding. Benign growths of the kidney include angiomyolipomas and renal cysts. They can cause high blood pressure, back pain, or blood in urine. These are also called cardiac rhabdomyomas. They are most often found in infants. They are diagnosed with an ultrasound of the heart (echocardiogram). They typically shrink as infants get older, or by around age 2. Heart tumors can obstruct blood flow in heart or cause heart rhythm problems. They may also remain silent, not causing any problems. These mostly consist of white growths at the back of the eye called retinal astrocytic hamartomas. They rarely affect vision. Subtle findings in patients with TSC include: Sometimes, signs of TSC are missed. This is true particularly if However, it is usually difficult to miss TSC due to the number of organs that may be involved. TSC is, in fact, often discovered with the use of ultrasound in a fetus during pregnancy. Several types of lab tests are used in TSC. These include: This is helpful in confirming a diagnosis. Most people with TSC have a mutation in the TSC1 or TSC2 genes. However, a negative genetic test does not rule out TSC. In some patients, a TSC diagnosis can only be established clinically. MRI is helpful in taking detailed pictures of the brain. This can help detect abnormal brain growths. It can also be used to detect lung tumors. Ultrasound can scan the kidneys for tumors. An ultrasound of the heart is called an echocardiogram. It can detect rhabdomyoma, a benign tumor of the heart muscle. A CT scan can look at the chest to detect lung tumors. An eye exam performed by an ophthalmologist can detect tumors inside the eye. An EEG reads the electrical activity of the brain. It may be used if a child has seizures. It can help identify the type and location of the seizures. This test uses painless electrodes placed on the surface of the scalp. Tests are typically repeated either every year or every few years: MRI scan of the brain is obtained at least once per year in children who have seizures, neurologic problems, or previous growths seen on imaging. Needed every 1 to 3 years for evaluation of the kidneys. Needed every year until any heart tumors go down in size. Should be performed annually. Should be performed annually. Repeated based on a patient’s seizure activity. Treatment of TSC is based on the type and severity of the symptoms. It therefore varies from patient to patient. Seizures in TSC patients are usually treated with standard antiseizure medications. Some patients have a special type of seizure called infantile spasms. These patients need specific treatments. Sometimes, seizures do not respond to antiseizure medications. In these cases, surgery may be used to remove the brain tubers that may be causing them. In rare cases, cancerous growths can occur in the brain. These growths can block spinal fluid. They may be treated with: Other TSC-related conditions that may require treatment include: The team involved in treating patients with TSC is usually very large. It can include: Treat seizures and monitor brain imaging studies. Do school and IQ testing to ensure children are receiving all the services they need to do their best in school. Can be helpful for managing behavioral problems. May help remove seizure–causing growths or cancerous growths in the brain. Monitor for kidney growths and subsequent issues, such as high blood pressure. Monitor heart function and any growths seen on echocardiogram. Monitor for any lung growths or related complications. Are a primary resource for all children. They can help navigate the services and referrals these children may need. TSC Alliance Infantile Spasms Action Network Pediatric Epilepsy Surgery Alliance In addition, PESA has resources for medical professionals to assist in helping clinicians help the parents of their patients find the resources they need after surgery. Educators and therapists will also find helpful resources and information, including videos, guides, and relevant research. Patients who have undergone surgery are encouraged to register with the Global Pediatric Epilepsy Surgery Registry to help set future research priorities. JCN Podcast on Tuberous Sclerosis Child Neurology Foundation (CNF) solicits resources from the community to be included on this webpage through an application process. CNF reserves the right to remove entities at any time if information is deemed inappropriate or inconsistent with the mission, vision, and values of CNF. 
DESCRIPTION
Variability
Complications
SIGNS AND SYMPTOMS
Skin abnormalities
Brain abnormalities
Developmental delays
Kidney growths
Heart tumors
Eye findings
LAB INVESTIGATIONS
Genetic testing
Magnetic resonance imaging (MRI)
Ultrasound
Echocardiogram
Computerized tomography (CT) scan
Eye exam
Electroencephalogram (EEG)
MRI of brain
MRI of abdomen
Echocardiogram
Skin checks
Eye exam
EEG
TREATMENT AND THERAPIES
Treating Seizures
Treating Cancerous Growths
Treating Other Conditions
Treatment Team
Neurologists
Neuropsychologists
Psychologists
Neurosurgeons
Nephrologists
Cardiologists
Pulmonologists
Primary care pediatricians
Resources
Organizations
The TSC Alliance is dedicated to finding a cure for tuberous sclerosis complex, while improving the lives of those affected. The TSC Alliance was founded on the core belief that community is a sustaining strength in the face of difficult challenges.
The TSC Alliance hosts a private Facebook group, TSC Alliance Tuberous Sclerosis Complex Discussion Group with over 10,000 members. This discussion group is made available for caregivers, family members and other interested parties to discuss the various aspects of dealing with tuberous sclerosis complex.
The Infantile Spasms Action Network (ISAN) is a collaborative network of over 30 national and international entities focused on raising awareness for infantile spasms. To learn more about the group please visit their website.
The Pediatric Epilepsy Surgery Alliance (formerly known as The Brain Recovery Project) enhances the lives of children who need neurosurgery to treat medication-resistant epilepsy. They empower families with research, support services, and impactful programs before, during, and after surgery. PESA’s programs include research-based, reliable information to help parents and caregivers understand when a child’s seizures are drug-resistant; the risks and dangers of seizures; the pros and cons of the various neurosurgeries to treat epilepsy; the medical, cognitive, and behavioral challenges a child may have throughout life; school, financial aid, and life care issues. PESA’s resources include a comprehensive website with downloadable guides, pre-recorded webinars, and virtual workshops; an informative YouTube channel with comprehensive information about epilepsy surgery and its effects; a private Facebook group (Education After Pediatric Epilepsy Surgery) with over 300 members; Power Hour (bi-monthly open forums and live virtual workshops on various topics); and free school training to help your child’s education team understand the impact of their epilepsy surgery in school. Their Peer Support Program will connect you with a parent who has been there. The Pediatric Epilepsy Surgery Alliance also hosts biennial family conferences and regional events that allow families to learn from experts, connect with other families, and form lifelong friendships. They also provide a travel scholarship of up to $1,000 to families in need to fund travel to a level 4 epilepsy center for a surgical evaluation.
Publications
Podcast from SAGE Neuroscience and Neurology/Journal of Child Neurology (JCN). Dr. Alison Christy speaks with Dr. Jurriaan Peters of Boston Children’s Hospital about their article published in JCN “The Evolution of Subclinical Seizures in Children With Tuberous Sclerosis Complex”. Then Dr. Christine Park of Brooke Army Medical Center in San Antonio gives an overview of the disease. Finally, Dr. Alison Christy interviews Dr. Derek Bauer of the University of Virginia on their personal connection with the disease as well as their career path.
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