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Tuberous Sclerosis Program

The University of Chicago Medicine is home to a unique tuberous sclerosis program, where pediatric neurologists and neurosurgeons diagnose and manage this condition in patients of all ages. By including adults and children in one comprehensive clinic, our specialists are able to provide continuity of care as patients born with tuberous sclerosis transition into adulthood. In addition, our pediatric neurosurgeons have the knowledge and skill to treat children of all ages and also adult patients who were previously asymptomatic.

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What is Tuberous Sclerosis?

Tuberous sclerosis is a neurological disorder that can cause growths (called tubers) and tumors to develop inside vital organs, including the brain, kidneys, lungs, heart and skin. While the tumors typically are non-cancerous, they can cause serious health complications if left untreated. Some individuals with tuberous sclerosis experience developmental delay, mental retardation and/or seizures. Other individuals have milder symptoms, such as unusual patches of light-colored skin, red patches, and/or rough growths around the nails.

Tuberous sclerosis is caused by a genetic mutation that either is inherited from a parent or acquired during development before a children is born. A congenital condition, tuberous sclerosis is present at birth and often diagnosed during infancy, but also can remain undiagnosed in individuals with mild forms. It is a life-long disease that requires ongoing monitoring and management. At the University of Chicago, our physicians understand that symptoms and health concerns change as patients grow. We provide personalized care for patients in all stages of life and with varying courses of tuberous sclerosis.

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Advanced Diagnostics

Our neurologists use a variety of tools to diagnose this complex condition. The tools may include:

  • Eye examination to look for abnormal growths in the retina
  • Skin examination to look for abnormal lesions, or light or red patches
  • Magnetic resonance imaging (MRI), which provides information about brain and kidney lesions
  • Electroencephalogram (EEG), which records electrical activity in the brain
  • Computed tomography scan (CT scan), which produces detailed images of bones, muscles, fat and organs
  • Genetic testing to determine if the genetic mutation associated with tuberous sclerosis is present. Genetic counseling also can determine if tuberous sclerosis affects other members of the patient's family.

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Understanding Treatment Options

Although there currently is no cure for tuberous sclerosis, early intervention and comprehensive care can help patients to manage their symptoms. The exact course of treatment will depend on a variety of factors, such as the patient's age, medical history and tolerance for certain medications, as well as the severity and projected course of the disease. Before recommending treatment, University of Chicago Medicine neurologists assess each individual's needs and create a detailed care plan. Some strategies that our expert physicians may suggest include:

  • Medication to treat tumors, control seizures or manage related behavioral problems
  • Surgery to treat skin lesions or remove any tumors that affect vital organs
  • Educational and/or occupational therapy to maximize the individuals' ability to perform everyday tasks
  • Vagus nerve stimulation, a minimally invasive surgical alternative for patients experiencing seizures

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