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

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.

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.

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).

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.

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.

There are no specific treatments for TSC. Seizures are treated with anti-epileptic medications. See Seizures/Epilepsy. 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.

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.

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

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.

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.