Tuberous Sclerosis

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, as well as adult patients who were previously asymptomatic.

Frequently Asked Questions

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 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.

How is tuberous sclerosis diagnosed?

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

What are the treatment options for tuberous sclerosis?

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

Our Multidisciplinary Tuberous Sclerosis Team

At the UChicago 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.

Mohan S. Gundeti, MD

Pediatric Urology

Arieh L. Shalhav, MD

Urologic Oncology (Urologic Cancer)

Sarah Stein, MD

Pediatric Dermatology

Darrel J. Waggoner, MD

Genetics

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