Tuberous Sclerosis (TSC) Testing and Diagnosis in Children

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A wide variety of symptoms can be caused by tuberous sclerosis complex (TSC). Many of them, such as seizures and developmental delays, also occur in many children who don’t have TSC. So doctors look for a group of symptoms to make the diagnosis. Some of the symptoms are visible from birth, so the diagnosis can often be made when a child is an infant.

In order to determine whether your child has TSC, your child’s medical team will perform a number of different tests:

  • A doctor will perform a careful physical examination of your child and talk in-depth with you about his medical history and family history.
  • The doctor will examine your child’s skin for several different types of skin lesions. One type, white patches called hypomelanotic macules, can be hard to see, especially on infants or children with pale skin, so the doctor may use an ultraviolet light called a Wood’s lamp to find them, which is painless.
  • Your child may have a brain-imaging scan such as magnetic resonance imaging (MRI) to look for benign tumors that often occur in children with TSC.
  • Doctors may use an echocardiogram (ECHO, an ultrasound of the heart) to look for heart tumors.
  • Kidney (renal) ultrasound helps doctors identify any kidney lesions.
  • Genetic testing plays an important role. If your child’s test is positive (if a TSC mutation is found), that is enough to indicate that your child has TSC. However, about 20 percent of people who have TSC don’t have an identifiable mutation, so a negative genetic test result can’t rule out TSC.

Because TSC can involve many different features in different body systems, it’s often important for multiple specialists to help make the diagnosis. At Children’s Hospital Boston, children who may have TSC are evaluated in our Multi-Disciplinary Tuberous Sclerosis Program which includes specialists from many different fields who work closely together.

Prenatal evaluation and evaluation of family members

Sometimes, the heart tumors that are characteristic of TSC are seen before a baby is born, during a routine prenatal ultrasound. These heart tumors can be an early sign that a child may have TSC. If your obstetrician suspects that your baby may have this type of lesion, she may refer you to Children’s Advanced Fetal Care Center for advanced ultrasound screening. Our tuberous sclerosis team can meet with you there, and then once your baby is born, we will evaluate your child in the Multi-Disciplinary Tuberous Sclerosis Program

TSC is caused by genetic (DNA) changes. In most cases, the DNA change is “spontaneous,” meaning that a child with TSC is the first person in his family to have it. But in about a third of cases, the condition was inherited from a parent. Occasionally, a parent has TSC but doesn’t know it because her symptoms have been very mild. So if your child is diagnosed with TSC, you may need to be examined and have genetic testing done, as well.

If you have a child with TSC, there is also an increased likelihood that your other children will have the condition, as well. In some cases, if the family of a child with TSC has another pregnancy, we may refer them to the Advanced Fetal Care Center for advanced ultrasound.

Watching for complications from TSC

Evaluating your child for TSC involves more than just putting a name on your child’s condition: It involves learning exactly what TSC looks like in your child. That’s true for any condition, but TSC is one disease where it’s especially true, since the complications can be so different in each child.

Many of the complications associated with TSC can be managed much more effectively if they’re treated early, so your child’s team will monitor him closely, both when we’re first evaluating him and as he grows up. Additional tests and evaluations your child may need include:

Our team of specialists in the Multi-Disciplinary Tuberous Sclerosis Program will talk with your family about the types of complications they’re going to be on the lookout for and the kinds of testing your child may need. By working together as an integrated team and performing most of your child’s examinations and testing in one place, we work to make your child’s care as well-coordinated as possible.

We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”
- Sandra L. Fenwick, President and CEO

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