Tuberous Sclerosis Complex | Diagnosis & Treatments

How is tuberous sclerosis complex diagnosed?

Tuberous sclerosis complex (TSC) can cause a wide variety of symptoms. Many of them, such as seizures and developmental delays, are common in children who do not have TSC. Therefore, in order to diagnose the condition, doctors look for a group of symptoms. Some of the symptoms are present at birth, such as tumors on the heart and white patches on the skin.

Your child’s medical team may run a number of different tests to diagnose TSC, including:

  • magnetic resonance imaging (MRI) of the brain to look for tumors in the brain and renal system that often occur in children with TSC
  • echocardiogram (an ultrasound of the heart) to look for tumors on the heart
  • ultrasound to identify any kidney lesions
  • genetic testing to look for a TSC-related gene change. About 20 percent of people who have TSC do not have an identifiable gene change. Therefore a negative genetic test result cannot rule out a child having the condition.

Prenatal diagnosis

Sometimes heart tumors are seen during a routine prenatal ultrasound. These heart tumors can be an early sign of TSC. If your clinician sees this type of tumor, he or she may refer you for advanced ultrasound screening.

What are the treatment options for tuberous sclerosis complex?

Unfortunately, there is no cure for tuberous sclerosis complex yet. But there are many effective treatment options for most symptoms.

  • Antiepileptic medications can help treat and control infantile spasms and other types of seizures associated with TSC.
  • Laser surgery and topical creams can reduce the appearance of some of the skin lesions associated with TSC. This is especially true for facial lesions. Treating the lesions early, while they are still small, can make them easier to manage.
  • Surgical procedures are sometimes necessary to remove tumors and help preserve the function of affected organs.
  • Many behavioral therapies and educational approaches can be effective for children with developmental disorders, such as autism spectrum disorders.

Many of the complications of TSC can be managed more effectively if they are treated early. Early diagnosis, behavioral therapy, and alternative educational approaches can be very helpful to children with developmental disorders. Therefore, it is important to monitor your child closely for any symptoms related to TSC.

Expert care for tuberous sclerosis complex

The Boston Children’s Hospital Multidisciplinary Tuberous Sclerosis Complex Program brings together pediatric specialists from epilepsy, neurosurgery, psychiatry, psychology, cardiology, nephrology, ophthalmology, dermatology, and genetics. Each member of our team has special expertise in treating children with TSC.

Our team consists of experts in many of the specialized fields related to TSC who all have experience providing care to children with complex conditions and their family members. Together, with our knowledge and background, we believe we can provide the best possible care for your child.

Frequently asked questions

How common is tuberous sclerosis complex?

It is estimated that about 50,000 people in the United States and 1 million worldwide have TSC. About one in 6,000 children are born with the disease each year.

How can one condition cause so many different complications?

TSC is caused by a change (pathogenic variant) in either the TSC1 or TSC2 gene. Scientists believe that these genes work together to suppress abnormal growth of cells. When a copy of one of the genes is altered, tumors and other abnormal tissues can grow in a number of different organs. Researchers have found that these genes also affect how brain cells grow, migrate, and connect with each other, which may be why children with the condition may have developmental and behavioral difficulties and seizures.

What is the long-term outlook for a child with TSC?

Most children with TSC live active, productive lives and have a normal life expectancy. Many of the complications associated with TSC can be managed effectively if caught and treated early. This makes it important for your child to be followed by a physician throughout his or her life.

Will my child have developmental problems or an intellectual disability?

There’s no simple answer, since each child is affected very differently by TSC. Many children do have some type of developmental delay, learning disability or behavioral problems. Autism spectrum disorder (ASD) is one of the most common developmental disorders seen in children with TSC, affecting about 50 percent of patients.

Early diagnosis and therapy can be very helpful to children with developmental difficulties. Therefore, your child’s medical team will watch his or her development closely. Talk with your doctor if you have any concerns about your child’s development or behavior.

How will this condition affect my child as an adult?

TSC can affect people in different ways at different times in their lives. Some of the symptoms may get better as your child grows. For example, epilepsy often resolves or is well-controlled, and heart tumors usually shrink or disappear completely as children get older. However, kidney or brain tumors can often grow into adulthood and they can sometimes cause serious problems that require treatment. TSC can affect individuals at any point in their lives, which makes it important for your child to be monitored closely throughout his or her life.