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What is tuberous sclerosis?
What are the symptoms of tuberous sclerosis?
How is tuberous sclerosis diagnosed?
How is tuberous sclerosis treated?
What is the prognosis?
Tuberous sclerosis is a rare disease that causes benign tumors to grow in the brain and other vital organs such as the kidneys, heart, eyes, lungs, and skin. This condition is caused by defects in genes that lead to formation of nodules in the brain, which calcify with age and become hard (sclerotic).
In addition to the benign tubers that form, there are other types of brain tumors that are associated with tuberous sclerosis. These include subependymal nodules, which form in the walls of the ventricles (fluid-filled cavities within the brain) and astrocytomas. Growth of these tumors to a large size can block the flow of cerebrospinal fluid (CSF) within the brain and cause hydrocephalus.
What are the symptoms of tuberous sclerosis?
Tuberous sclerosis can affect many different systems of the body, causing a variety of symptoms. In addition, the natural course of the disease varies among individuals, with symptoms ranging from very mild to severe. These symptoms include seizures, mental retardation, behavior problems, and skin abnormalities; as well as kidney and heart failure, among many others.
How is tuberous sclerosis diagnosed?
Diagnosis of this disorder is made based on a careful clinical exam in combination with brain imaging modalities such as computed tomography (CT) or magnetic resonance imaging (MRI), which may show the benign masses in the brain. In addition, an ultrasound of the heart, liver, and kidneys may show tumors in those organs. Careful examination of the skin and eyes may reveal a wide variety of abnormalities that are associated with tuberous sclerosis with regard to these two organs.
Many patients with tuberous sclerosis have evidence of the disorder in the first year of life; however, clinical features can be subtle initially, and many signs and symptoms take years to develop. As a result, tuberous sclerosis can be unrecognized or misdiagnosed for years.
How is tuberous sclerosis treated?
There is no cure for tuberous sclerosis, although treatment is available for a number of the symptoms. Anti-epileptic drugs may be used to control seizures, and medications may be prescribed for behavior problems. Intervention programs including special schooling and occupational therapy may benefit individuals with special needs and developmental issues; and surgery including dermabrasion and laser treatment may be useful for treatment of skin lesions. In addition, for patients who are symptomatic from growth of the brain tumors, surgery may be needed to remove the tumors and relieve the pressure on the brain.
Because this disorder is a lifelong condition, individuals need to be regularly monitored to make sure they are receiving the best possible treatments. Due to the many varied symptoms of tuberous sclerosis, care by a clinician experienced with the disorder is necessary.
The prognosis for individuals with tuberous sclerosis depends on the severity of symptoms, which range from mild skin abnormalities to varying degrees of epilepsy, severe mental retardation, and kidney failure. Those individuals with mild symptoms generally do well and live long productive lives, while individuals with the more severe form may have significant disabilities. In rare cases, seizures, infections, or tumors in vital organs may cause complications that can lead to severe health problems and even death. However, with appropriate medical care, most individuals with the disorder can have a normal life expectancy.
