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Pediatric Epilepsy

What is Tuberous Sclerosis Complex?

Tuberous Sclerosis Complex (TSC) is a genetic disorder caused by a mutation in one of two genes. It can occur spontaneously or be inherited from a parent with the disease. The primary characteristic of TSC is the growth of abnormal tissue, benign tumors or lesions on one or more organs, which may include the brain, heart, lungs, kidneys, skin and eyes.

Approximately 90 percent of individuals with TSC will experience epileptic seizures caused by tumors or lesions on the brain, which can block the flow of spinal fluid or press on vital structures. Additional neurologic complications of TSC may include autism, learning disabilities and cognitive impairment.

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To schedule an appointment with a UH Rainbow pediatric epileptologist, call 216-286-6644.

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A Wide Range of Seizure Types May Occur in Patients with TSC

When TSC-related tumors or lesions form in the brain, seizures are the most common symptom. Depending on the size and location of the growth, patients may experience the following types of seizures:

  • Absence seizures – A seizure that causes a person to experience a brief, trance-like state of decreased responsiveness
  • Atonic seizures – A seizure that causes a sudden loss of muscle strength and may cause the person to fall if they are awake and standing
  • Tonic seizures – A seizure that causes sudden stiffness in the muscles of the arms, legs or torso. They usually last about 20 seconds and are most common during sleep. If they occur when the person is awake and standing, it may cause them to fall.

Advanced Methods to Diagnose TSC-Related Seizures

An early and accurate diagnosis of TSC is essential so that the appropriate treatments can begin. If your child is experiencing seizures, the pediatric epilepsy specialists at UH Rainbow will conduct a thorough physical exam and take a detailed medical and family history. They will ask you to describe your child’s symptoms and may order one or more imaging tests to confirm or rule out TSC-related lesions in the brain. The imaging tests may include:

Additional diagnostic tests may include:

  • Blood and urine tests
  • Genetic testing

Comprehensive Treatment Plans for Optimal Outcomes

When TSC-related seizures are diagnosed early and an appropriate treatment plan is devised and followed, most patients will do well and enjoy a normal life expectancy. However, outcomes are highly variable and will depend on the severity of the symptoms.

Treatment of TSC-related seizures will always include routine monitoring. This may include regular brain MRI exams to monitor existing brain lesions and watch for new ones. Neurodevelopmental and behavioral screenings may also be done as needed, particularly if new symptoms arise.

Additional treatments for TSC-related epilepsy may include dietary therapy, medications and surgery.