DESCRIPTION
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.
Variability
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:
- Brain
- Kidneys
- Heart
- Lungs
- Skin
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:
- Mild cases can result in a late diagnosis in older children and young adults
- Severe cases can result in an early diagnosis in infancy
Complications
Most patients with TSC will be diagnosed with other medical problems caused by the condition. Complications can include:
- Seizures
- Cognitive or learning difficulties
- Behavioral problems
- Skin abnormalities
- Kidney problems
- Lung lesions
TSC can cause serious or life-threating complications depending upon where the tumors grow and how big they are. For example:
- If growths occur in the heart, they can affect blood flow
- If growths occur in the brain, they can cause increased pressure inside the skull, or block flow of fluid around the brain
- If growths occur in the kidneys, they can lead to high blood pressure
SIGNS AND SYMPTOMS
TSC is diagnosed on the basis of:
- Clinical history
- Findings on physical examination
- Special scans with magnetic resonance imaging (MRI), ultrasound, and computerized tomography (CT)
Diagnosis can be confirmed in two ways.
- TSC is confirmed when patients have two or more of the distinctive features described below.
- TSC can also be confirmed if genetic testing shows mutations in the TSC1 or TSC2 genes.
A variety of distinctive features can confirm TSC.
These features include:
Skin abnormalities
These can appear as:
- Small areas of thickened, smooth skin called shagreen patches
- Bumps under the nails that look like extra skin
- Patches of light-colored skin called ash leaf spots
- In childhood, there are often small bumps on the face that resemble acne and are called facial angiofibromas
Brain abnormalities
Growths in the brain are detected with imaging studies such as brain MRI.
They may include:
- Cortical tubers. Cortical tubers are typically found throughout the brain. They are very common in patients with TSC. Cortical tubers can cause seizures. These seizures are, in many patients, the first symptom that leads to investigation of TSC.
- Giant cell astrocytomas. Giant cell astrocytomas are less-common cancerous tumors. They can cause problems with the flow of spinal fluid. This can result in increased pressure in the brain and enlargement of head size.
- Subependymal nodules. Subependymal nodules are very common. They are growths that occur along the walls of the fluid-filled pockets of brain known as ventricles.
Developmental delays
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.
Kidney growths
Heart tumors
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.
Eye findings
Subtle findings in patients with TSC include:
- Enamel pits in the teeth
- Growths in liver
- Growths along the gum lines
Sometimes, signs of TSC are missed. This is true particularly if
- There are very few hamartomas (growths), and they are not confined to major organs such as the brain
- A child has relatively normal or slight developmental delay
- A child does not show many other signs, such as seizures
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.
LAB INVESTIGATIONS
Several types of lab tests are used in TSC.
These include:
Genetic testing
Magnetic resonance imaging (MRI)
Computerized tomography (CT) scan
Eye exam
Tests are typically repeated either every year or every few years:
MRI of brain
TREATMENT AND THERAPIES
Treatment of TSC is based on the type and severity of the symptoms. It therefore varies from patient to patient.
Treating Seizures
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.
Treating Cancerous Growths
In rare cases, cancerous growths can occur in the brain. These growths can block spinal fluid. They may be treated with:
- Surgery.
- Everolimus. Everolimus is a special medication with anticancer and immunity suppression properties. It can also help reduce the size of the tubers/growths, in addition to helping reduce seizures.
Treating Other Conditions
Other TSC-related conditions that may require treatment include:
- ADHD: Medication can help improve focus.
- Developmental delay and intellectual disability: Therapies and special assistance in school can help.
- Growths in kidneys and lungs: Medical and surgical treatments may be needed. Everolimus is also used to reduce the size of the growths in the kidneys.
- Vision problems: Regular eye checkups and medical or surgical interventions may be needed.
Treatment Team
The team involved in treating patients with TSC is usually very large.
It can include:
Neuropsychologists
Nephrologists
Resources
Organizations
TSC Alliance
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.
Infantile Spasms Action Network
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.
Pediatric Epilepsy Surgery Alliance
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.
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.
Publications
JCN Podcast on Tuberous Sclerosis
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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