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 delays, 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. 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 UChicago Medicine, 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.

Our neurologists use a variety of tools to diagnose this complex condition, including:

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

Although there currently is no cure for tuberous sclerosis, early intervention and comprehensive care can help patients 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, UChicago Medicine neurologists assess each individual's needs and create a detailed care plan. Some strategies that our physicians may suggest include:

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

In the University of Chicago Medicine Tuberous Sclerosis Program, expert neurologists work with physicians in various specialities including dermatology, genetics and urology. Our team provides personalized, compassionate care for individuals with tuberous sclerosis. In addition to treating individuals diagnosed during infancy, our team sees adult patients who have recently started experiencing signs and symptoms of tuberous sclerosis.