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Tuberous Sclerosis Complex (FAQ)

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Answers to questions families often have about caring for their child with tuberous sclerosis complex (TSC)

What is tuberous sclerosis complex and what causes it?

Tuberous sclerosis complex (TSC) is an inherited condition in which benign tumors grow in the brain and, to a lesser extent, in the kidneys, heart, eyes, lungs, and skin. Although the tumors are generally benign, they may cause major problems due to their location. Skin abnormalities, which may lead to the diagnosis, seizures, developmental delay/intellectual disability, features of autism, and behavior problems are also common in individuals with TSC. Although children are born with TSC, skin signs, developmental delay, and other symptoms may not be apparent until months or years after birth.

What are the symptoms of tuberous sclerosis complex?

Your child's provider may diagnose this condition if your child is born with a tumor in the heart, called a rhabdomyoma. Otherwise, the skin features are easy to miss and your child might not be diagnosed until after behavior problems, features of autism, intellectual disability/developmental delay, and/or seizures are seen.

How is it diagnosed?

The diagnosis of TSC is based on the child having a certain number and combination of major and minor clinical features including skin, eye, heart, kidney, teeth, mouth, and brain features. [Northrup: 2013] and [Krueger: 2013]. For a detailed list, please see Tuberous Sclerosis Complex (TSC), Clinical Assessment.

What is the prognosis?

TSC is a life-long condition. Although most individuals with TSC have normal life expectancy, in rare cases, intractable seizures or tumors in vital areas may cause premature death.

What is the risk for other family members or future babies?

TSC is inherited in an autosomal dominant manner. Systematic evaluation with a skin exam and imaging may be required to confirm the diagnosis. Only approximately 1/3 of children with TSC have a family history; the remaining 2/3 of cases are thought to result from spontaneous mutations.

What treatments/therapies/medications are recommended or available?

There are no specific treatments for TSC. Seizures are treated with anti-epileptic medications. See Seizures/Epilepsy, Treatment & Management. Therapies are available to help children with developmental delays, behavior problems, and features of autism. Your child will generally be followed by a geneticist who will perform routine surveillance for other problems that may arise.

How will my child and our family be impacted?

The extent of how your child and family will be impacted will depend on the severity of the condition in your child. However, even in mildly affected children, there will likely be some medical or developmental problems that will need management. Meeting other families with children with the same condition may be helpful.

Why does my child have tuberous sclerosis complex (TSC) when nobody else in our family has ever had it?

About half the time, TSC appears sporadically, due to a spontaneous mutation, without any family history.

Why does my doctor want to use vigabatrin which may cause vision loss for my baby's seizures?

Your doctor is weighing the potential harms and benefits of many treatments. Vigabatrin seems to be particularly successful for the treatment of infantile spasms due to TSC. You should discuss your concerns with your physician.

My child needs glasses; is this because of TSC?

TSC does cause changes in the physical appearance of the eyes (e.g. retinal hamartomas, which are benign lesions) but does not change eye function. Any need for glasses is most likely unrelated to the TSC.

Resources

Information & Support

Related Portal Content
Tuberous Sclerosis Complex (TSC)
Assessment and management information for the primary care clinician caring for the child with tuberous sclerosis complex (TSC).

Care Notebook
Medical information in one place with fillable templates to help both families and providers. Choose only the pages needed to keep track of the current health care summary, care team, care plan, health coverage, expenses, scheduling, and legal documents. Available in English and Spanish.

For Parents and Patients

Support

Tuberous Sclerosis Alliance Support Community
An online support community for individuals and families affected by TSC; sponsored by Inspire.com - membership required.

TSC Community Alliances (TSAlliance.org)
Locations of volunteer groups who work with the TS Alliance to facilitate local connections for individuals and families affected by TSC.

National Organization of Rare Disorders (NORD)
Information for families that includes synonyms, signs & symptoms, causes, affected populations, related disorders, diagnosis, therapies (both standard and investigational), and support organizations; National Organization of Rare Disorders.

General

Tuberous Sclerosis Alliance
Information about TSC and access to online communities, supports, and research.

Tuberous Sclerosis (Medline Plus)
Overview with links to reliable sources of more detailed information; from the National Library of Medicine.

Tuberous Sclerosis Information Page (NINDS)
Overview of TSC with emphasis on research and inclusion of links to studies and clinical trials; National Institute of Neurological Disorders and Stroke.

Tuberous Sclerosis (GARD)
Includes information about symptoms, inheritance, diagnosis, finding a specialist, related diseases, and support organizations; Genetic and Rare Diseases Information Center of the National Center for Advancing Translational Sciences.

The LAM Foundation
Nonprofit organization that offers information, resources, and grants for research related to lymphangioleiomyomatosis (LAM). The Healthcare Providers tab on the top of the page provides clinical diagnosis and management information. Other tabs provide information and resources for families affected by LAM and TSC.

Patient Education

An Introduction to TSC (Tuberous Sclerosis Alliance) (PDF Document 2.1 MB)
A 32-page online booklet that provides information about diagnosis, features, genetics, and support systems for families affected by TSC.

Services for Patients & Families in Utah (UT)

For services not listed above, browse our Services categories or search our database.

* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.

Studies

Tuberous Sclerosis (clinicaltrials.gov)
Studies looking at better understanding, diagnosing, and treating this condition; from the National Library of Medicine.

Clinical Trials/Studies Related to TSC (TSAlliance.org)
A list compiled and maintained by the Tuberous Sclerosis Alliance with clinical trials and clinical studies that have obtained Institutional Review Board approval.

Authors & Reviewers

Initial publication: November 2012; last update/revision: January 2016
Current Authors and Reviewers:
Author: Lynne M. Kerr, MD, PhD

Page Bibliography

Krueger DA, Northrup H.
Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference.
Pediatr Neurol. 2013;49(4):255-65. PubMed abstract / Full Text
Evidence-based, standardized approach for optimal clinical care provided for individuals with tuberous sclerosis complex.

Northrup H, Krueger DA.
Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference.
Pediatr Neurol. 2013;49(4):243-54. PubMed abstract / Full Text
Key changes compared with 1998 criteria are the new inclusion of genetic testing results and reducing diagnostic classes from three (possible, probable, and definite) to two (possible, definite). Additional minor changes to specific criterion were made for additional clarification and simplification.