Tuberous Sclerosis

The Epilepsy Institute of New Jersey is a team of board-certified neurologists and neurosurgeons who provide expert care for a variety of pediatric neurological conditions, including tuberous sclerosis. Our team uses advanced diagnostic tools and innovative treatment techniques to ensure the best outcomes for your child.

The Physical Impact

Tuberous sclerosis (TSC) is a rare genetic disorder that causes the growth of benign tumors (called tubers) in various organs, including the brain, heart, kidneys, skin, and lungs. The presence of these tumors in the brain can lead to epilepsy, developmental delays, and other neurological issues. Seizures are one of the most common symptoms of tuberous sclerosis and can significantly impact a child's development and quality of life. The severity of the condition varies, but early diagnosis and intervention are crucial in managing symptoms and improving long-term outcomes.

How Common Is This Condition?

Tuberous sclerosis affects approximately 1 in 6,000 live births, making it a rare disorder. It can occur in both males and females and is often diagnosed in infancy or early childhood, especially when seizures or skin abnormalities (such as hypomelanotic macules) are noticed. TSC is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition to their children. However, in about two-thirds of cases, TSC occurs as a spontaneous mutation in a child with no family history.

Signs and Symptoms

Tuberous sclerosis can affect multiple organ systems, and the severity and type of symptoms vary depending on the location of the tumors. Common signs and symptoms include:

• Seizures: The most common neurological symptom of TSC, which can vary in type (focal, generalized, infantile spasms).
• Developmental delays: Cognitive and motor delays, which may be present from infancy and can range from mild to severe.
• Skin abnormalities: Hypomelanotic macules (white patches of skin), facial angiofibromas (small red bumps on the face), and shagreen patches (rough patches of skin).
• Behavioral issues: Children with TSC may experience autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), or other behavioral concerns.
• Cardiac rhabdomyomas: Benign tumors in the heart that are common in infants with TSC but may not cause symptoms.
• Kidney involvement: Renal cysts or angiomyolipomas (benign tumors) can develop in the kidneys, sometimes leading to kidney dysfunction.
• Lung issues: Lymphangioleiomyomatosis (LAM), a rare lung condition, can affect adult women with TSC and cause breathing difficulties.

How We Diagnose

At the Epilepsy Institute of New Jersey, diagnosing tuberous sclerosis begins with a thorough review of your child's medical history, symptoms, and physical examination. Our diagnostic steps often include:

• Genetic Testing: To identify mutations in the TSC1 or TSC2 genes, confirming the diagnosis of tuberous sclerosis.
• EEG (Electroencephalogram): To assess brain activity and identify seizure activity, which is common in TSC.
• MRI or CT Scans: These imaging studies help detect brain tubers and any other structural abnormalities in the brain or other organs.
• Skin Examination: A clinical assessment of the skin for characteristic features such as hypomelanotic macules, facial angiofibromas, and shagreen patches.
• Cardiac and Renal Evaluation: Ultrasound or echocardiogram to assess the heart and kidneys for tumors or other abnormalities.
• Ophthalmologic Examination: To check for retinal hamartomas, which can be present in some children with TSC.

Through this comprehensive diagnostic approach, we can confirm a diagnosis of tuberous sclerosis and develop a personalized treatment plan tailored to your child's specific needs.

Treatment Options

While there is no cure for tuberous sclerosis, treatment focuses on managing symptoms, controlling seizures, and addressing any organ involvement. Early intervention and a multidisciplinary approach are essential for optimizing outcomes. Treatment options include:

• Anti-Seizure Medications: These are the primary treatment for controlling seizures and may include drugs such as anticonvulsants, corticosteroids, or targeted therapies.
• Surgical Intervention: In cases of intractable seizures or large tumors, surgical removal of brain tubers or other tumors may be considered.
• mTOR Inhibitors: Medications such as everolimus or sirolimus, which target the mTOR pathway, have shown promise in reducing tumor size and improving neurological function.
• Behavioral Therapy: Early intervention with therapies for developmental delays, autism spectrum disorder, or ADHD can significantly improve your child's quality of life.
• Cardiac and Renal Monitoring: Regular imaging and check-ups for heart and kidney involvement, to monitor and manage any complications such as tumors or cysts.
• Supportive Care: Physical, occupational, and speech therapies can help your child improve motor skills, communication, and overall functioning.

At the Epilepsy Institute of New Jersey, we provide a comprehensive, collaborative approach to care, working with specialists in neurology, cardiology, nephrology, and other fields to ensure your child receives the best treatment available.