What is tuberous sclerosis?
"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 What is a genetic disorder? Your genes are the chemical codes that control everything about how your body works, how it's made, and what it looks like. People have over 20,000 different genes. Every cell in your body has... read more 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 Seizures in Children Seizures are changes in the brain's electrical signals. The brain is made up of nerve cells Nerve cells talk to each other through electrical signals Seizures happen if too many nerve cells... read more (usually infantile spasms Infantile Spasms "Infantile" refers to babies under 1 year old. A "spasm" is a sudden uncontrolled movement. Infantile spasms are a type of seizure. A seizure is caused by an abnormal burst of electrical activity... read more ), 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
What causes tuberous sclerosis?
Tuberous sclerosis is caused by an abnormal gene Genes and Chromosomes Your genes are the chemical codes that control everything about how your body works, how it's made, and what it looks like. People have over 20,000 different genes. Every cell in your body has... read more .
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.
What are the symptoms of tuberous sclerosis?
The symptoms vary and are more severe in some children than in others.
The first symptom may be seizures Seizures in Children Seizures are changes in the brain's electrical signals. The brain is made up of nerve cells Nerve cells talk to each other through electrical signals Seizures happen if too many nerve cells... read more , particularly the type of seizures called infantile spasms Infantile Spasms "Infantile" refers to babies under 1 year old. A "spasm" is a sudden uncontrolled movement. Infantile spasms are a type of seizure. A seizure is caused by an abnormal burst of electrical activity... read more
Often your child's skin has colored patches, flat spots, lumps, and bumps
Patches may form at the back of your child's eye (retina), which can affect vision
Often in children, the surfaces of the permanent teeth are pitted
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
This photo shows an ash-leaf–shaped patch. These patches appear on many people who have tuberous sclerosis complex.
By permission of the publisher. From Puduvalli V: Atlas of Cancer. Edited by M Markman and R Gilbert. Philadelphia, Current Medicine, 2002.
This photo shows red bumps consisting of blood vessels and fibrous tissue (angiofibromas) across the middle of the face of a person with tuberous sclerosis complex.
Photo courtesy of Karen McKoy, MD.
This photo shows a medium-brown, flat spot that is the color of coffee with milk (café-au-lait spot).
DR P. MARAZZI/SCIENCE PHOTO LIBRARY
This photo shows small fleshy bumps (fibromas) that grow around and under the toenails and fingernails (Koenen tumors) in people who have tuberous sclerosis complex.
© Springer Science+Business Media
How do doctors know my baby has tuberous sclerosis?
Doctors may suspect tuberous sclerosis if your baby has seizures and delayed development along with certain skin changes.
Your child’s doctor will do an eye exam to check for eye problems
The doctor will order an MRI Magnetic Resonance Imaging (MRI) MRI is a test that uses a machine with a powerful magnet to make pictures of the inside of your body. A computer records changes in the magnetic field around your body. The computer then uses... read more
or ultrasound Ultrasonography Ultrasonography is a safe imaging test that uses sound waves to create a moving picture of the insides of your body. Ultrasonography doesn't use radiation (x-rays). Ultrasonography is also called... read more 
(scans showing detailed pictures of the inside of your body) to check for tumorsA genetic test to check for the damaged gene may be done to confirm the diagnosis
Sometimes, doctors see tumors in a baby’s heart or brain during an ultrasound done before the baby is born.
How do doctors treat tuberous sclerosis?
There's no cure for tuberous sclerosis.
Doctors will recommend treating your child’s symptoms with:
Drugs to treat seizures or high blood pressure
Sometimes surgery to remove tumors
Sometimes a drug to shrink the tumors
Special schooling and physical therapy, occupational therapy, and speech and language therapy for developmental difficulties
Procedures to remove skin growths
How can I prevent tuberous sclerosis in my baby?
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.
