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Tuberous sclerosis complex (TSC) is a rare, autosomal dominant disorder and multisystem genetic disease that causes benign tumors to grow in the brain and all over the body. Autosomal means that both boys and girls are affected. Dominant means that only one copy of the gene is needed to have the condition.
Due to faulty signaling in a key molecular pathway, the benign tumors or abnormal cell growth affects the skin, brain, lungs and heart. It is estimated that TSC is diagnosed in one in 6,000 live births and affects more than one million individuals worldwide.
Often detected during infancy or childhood, TSC can manifest in varying ways depending on the location of the tumors.
- Skin abnormalities: White or very light patches on the skin, small areas of thickened skin or growths under and around the nails may be a symptom of TSC. Facial lesions that resemble acne are also common.
- Seizures: Lesions in the brain may cause a type of seizure called infantile spasms that manifest as repetitive spasms in the head and legs.
- Developmental delays: TSC can be associated with developmental, intellectual or learning delays.
- Behavior problems: Some children with TSC exhibit behavior problems.
- Communication: Some children with TSC may experience difficulties with communication and social interaction or have autism spectrum disorder.
- Kidney problems: One of the most common symptoms of TSC is lesions on the kidneys, damaging kidney function.
- Heart problems: Heart lesions are usually largest at birth and can shrink as the child ages.
- Lung problems: Lesions on the lungs can cause coughing and shortness of breath.
- Eye abnormalities: Lesions can form at the back of eye as white patches, but don’t always effect vision.
A parent with TSC or the gene for TSC has a 50% chance of passing the gene on to a child. Many children born with TSC are the first cases in a family. This is because most cases of TSC are caused by a new gene change (mutation) and are not inherited. But the parents of a child with TSC may have very mild symptoms of the disorder. The parents are believed to have a slightly increased risk of having another child with TS.
- Tuberous sclerosis is a genetic disease caused by mutations in the TSC1 or TSC2 gene.
- When these genes are working normally they are thought to prevent cells from growing too fast, but when either have mutations these genes can cause cells to divide excessively, leading to the numerous lesions throughout the body.
- Approximately one third of people with TSC inherit a mutated TSC1 or TSC2 gene from a parent who has the disease. And, about two thirds of people who have TSC have a new mutation in either the TSC1 or TSC2 gene – meaning neither parent has the disease.
- If you have TSC, you have up to a 50% chance of passing the condition to your biological children.
In many cases the first clue to recognizing TSC is the presence of seizures or delayed development. In infants, TSC may be suspected if the child has cardiac rhabdomyomas or infantile spasms at birth. When a patient seeks treatment for TSC, the health care provider will ask about your child’s symptoms, health history, family health history and developmental milestones. He or she may also ask about your family’s health history. Your child will also receive a physical exam and may have additional tests, such as:
- Genetic tests: These are blood tests. They check for health conditions that tend to run in families.
- MRI: An MRI uses large magnets, radio waves and a computer to make images of the inside of the body.
- CT scan: This test uses a series of X-rays and a computer to create images of the inside of the body. A CT scan shows more detail than a regular X-ray.
- Electroencephalogram (EEG): This test records the brain's electrical activity through sticky pads (electrodes) attached to the scalp.
- Eye exam: This checks for growths on the retina and excess pressure in the eye.
- Biopsy: A small sample of tissue from a tumor or skin lesion may be taken and looked at under a microscope.
There's no cure for TSC, but treatment can help manage symptoms, make the most of your child’s abilities and work to prevent or minimize deformities and delays. Treatment options include:
- Educational therapy
- Occupational therapy
- Psychological therapy
- Neurosurgery: The team at Texas Children’s Hospital has treated more children with TSC surgically than any other center in the world. This field has advanced tremendously over the last 20 years, with exciting new options available for children with TSC suffering with medically refractory epilepsy. Children from across the United States and the world are referred to Texas Children’s for surgical treatment.
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- Tuberous Sclorosis Alliance
- Dr. Howard L. Weiner on The Doctors Show (Graphic)
- Tuberous Sclerosis 101