Infants and children with Tuberous Sclerosis Complex are seen in the MUSC Children's Health Neurocutaneous Disorders Clinic, which is a multidisciplinary clinic that provides comprehensive medical care to children with neurologic disorders involving the skin and other organ systems. Our core multidisciplinary team consists of pediatric neurology and epileptology, dermatology, neuro-oncology, nephrology, and genetics, as well as consultative services by cardiology, ophthalmology, physical medicine and rehabilitation, developmental/behavioral pediatrics, and more.
Tuberous sclerosis complex (TSC), also known as tuberous sclerosis, is a rare genetic disorder that causes numerous non-cancerous (benign) tumors to grow in the brain and several areas of the body, including the skin, eyes, heart, kidneys, and lungs.
TSC is caused by genetic mutations on either the TSC1 or TSC2 gene. These genes are involved in regulating cell growth, and the mutations lead to uncontrolled growth and multiple tumors throughout the body.
TSC occurs in all races and, ethnic groups, and in males and females. In the U.S., an estimated 1 in 6,000 children are born each year with this disorder.
TSC is often first diagnosed in infancy or childhood, however, sometimes tuberous sclerosis can have such mild symptoms that the condition is not diagnosed until adulthood. Seizures and delayed development may be the first clues of having TSC.
Diagnosing TSC is based upon clinical criteria which include a thorough physical examination including the skin, heart, and eyes to identify signs and symptoms. Specialized imaging including CT scans or MRI (particularly of the brain), and ultrasound of the heart, liver, and kidneys are often also key parts of the diagnostic evaluation. Genetic testing ultimately confirms the diagnosis of TSC and helps to identify the specific mutation in the TSC genes.
The prognosis for individuals with TSC is highly variable and depends on the severity of symptoms.
The most common conditions in children with TSC requiring specialist evaluation and treatment include the following:
Currently, there is no cure for TSC, but treatment is available for a number of symptoms. Treatment is symptomatic and supportive, and often includes the following:
Since TSC is unique to each person, we offer an individualized treatment approach to provide the best possible management.
