Tuberous sclerosis is a hereditary disorder that causes abnormal growths in the brain, changes in the skin, and sometimes tumors in vital organs, such as the heart, kidneys, and lungs.
Tumors or other abnormal growths develop in several organs, such as the brain, 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.
In most cases, the disorder results from mutations in one of two genes. If either parent has the disorder, children have a 50% chance of having it. However, tuberous sclerosis often results from new mutations in the gene, rather than an inherited abnormal gene. This disorder occurs in 1 of 6,000 children.
Symptoms vary greatly in severity.
Tuberous sclerosis may cause seizures, 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 Infantile Spasms).
The skin is often affected, sometimes causing disfigurement:
Before birth, benign heart tumors called myomas may develop. These tumors typically disappear over time and cause no symptoms.
In many children, permanent teeth are pitted. Patches may develop on the retina, located at the back of the eye. If the patches are located near the center of the retina, vision may be affected.
Tumors in the brain may cause delays in development. Affected children may be intellectually impaired and have seizures. These tumors may become cancerous and enlarge, causing headaches or making other symptoms worse.
During adolescence and adulthood, kidney tumors may develop. They may cause high blood pressure, abdominal pain, and blood in the urine.
Tumors may develop in the lungs, particularly in adolescent girls.
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.
Doctors may suspect the diagnosis based on symptoms, such as seizures, delayed development, or typical skin changes. 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:
Tumors in the heart or brain are sometimes detected in a fetus during routine prenatal ultrasonography.
Treatment focuses on relieving symptoms:
Because tuberous sclerosis is a lifelong disorder and new problems can develop, affected people must be closely monitored for the rest of their life.
Genetic counseling is recommended for affected people and family members when they are considering having children.
Last full review/revision May 2014 by Margaret C. McBride, MD