Tuberous sclerosis is a hereditary disorder that causes abnormalities in the brain, changes in the skin and sometimes tumors to develop in vital organs, such as the heart and lungs.
Tumors or other abnormal growths develop in several organs, such as the heart, lungs, kidneys, eyes, and skin. The tumors are usually noncancerous (benign). The disorder is named for the typical long and narrow tumors in the brain, which resemble roots or tubers.
Tuberous sclerosis is usually present at birth, but symptoms may be subtle or take time to develop, making the disorder difficult to recognize early.
Several genes involved in the disorder have been identified. If either parent has the disorder, children have a 50% chance of having it. However, tuberous sclerosis usually results from new mutations in the gene, rather than an inherited abnormal gene.
Tuberous sclerosis may cause seizures, mental retardation/intellectual disability, autism, delayed development of motor or language skills, learning disorders, or behavioral problems (such as hyperactivity and aggression).
The first symptom may be infantile spasms, a type of seizure (see see Infantile Spasms). Some children have kidney tumors, which can cause high blood pressure, abdominal pain, and blood in the urine. Kidney cancer can also occur.
The skin is often affected, sometimes causing disfigurement:
How well affected people do depends on how severe the symptoms are. If symptoms are mild, infants generally do well and grow up to live long, productive lives. If symptoms are severe, infants may have serious disabilities. Nonetheless, most children continue to develop, and life expectancy is not affected. Because tuberous sclerosis is a lifelong disorder, affected people must be closely monitored for the rest of their life.
Doctors may suspect the diagnosis based on symptoms, such as seizures, delayed development, or typical skin growths. An eye examination (with ophthalmoscopy) is done to check for eye abnormalities. Magnetic resonance imaging (MRI) or ultrasonography is done to check for tumors in various organs.
Genetic testing may be done for the following reasons:
Ultrasonography may be done before birth to check for heart or brain tumors in a fetus.
Treatment focuses on relieving symptoms:
Genetic counseling is recommended for affected people and family members when they are considering having children.
Last full review/revision February 2009 by Margaret C. McBride, MD