"Tuberous" refers to an abnormal growth shaped like a tuber, which is a root vegetable like a potato or yam. "Sclerosis" means hardening of something soft, like growths or organs.
Tuberous sclerosis is a rare genetic disorder in which many hard, tuber-shaped tumors grow in your child's brain and sometimes other organs such as the heart, kidneys, and lungs. Some of the growths are cancerous.
The most common symptoms include seizures (usually infantile spasms), skin growths and colored patches, and learning and behavior problems
Doctors suspect the disorder based on your child's symptoms and confirm it by genetic tests
There's no cure but medicines sometimes help relieve symptoms
Repeat imaging studies help identify new tumors early on, when treatment is more likely to be successful
Tuberous sclerosis is caused by an abnormal gene.
Sometimes, the baby inherits the abnormal gene from a parent. Other times, the baby is the first person in the family to have the abnormal gene.
The symptoms vary and are more severe in some children than in others.
Tumors cause symptoms that vary depending on where the tumor grows:
Brain tumors can cause headaches, seizures, or intellectual disabilities and can slow a child’s development
Kidney tumors can cause high blood pressure, stomach pain, and blood in the urine
Lung tumors (often in teenage girls) can cause breathing problems
Heart tumors form before birth and have no symptoms
Doctors may suspect tuberous sclerosis if your baby has seizures and delayed development along with certain skin changes.
Sometimes, doctors see tumors in a baby’s heart or brain during an ultrasound done before the baby is born.
There's no cure for tuberous sclerosis.
Doctors will recommend treating your child’s symptoms with:
Tuberous sclerosis can't be prevented.
However, if tuberous sclerosis runs in your family and you're planning on having children, you can get genetic tests to see if you carry the gene that can causes tuberous sclerosis. Genetic counseling can help determine the risk of your child having the disorder.