Not all people with TSC will have all of these features.
Characteristic brain issues include cortical brain tubers and subependymal nodules.
- Cortical brain tubers can be found in different parts of the brain and may act as a seizure focus.
- Subependymal nodules occur in 90% of people with TSC and most remain dormant throughout life, but can cause problems if they obstruct the flow of the fluid around the brain.
- Subependymal nodules develop into subependymal giant cell astrocytomas (SEGA) in 6-14% of people with TSC and are one of the leading causes of medical problems and death.
- Cortical brain tubers and subependymal nodules are thought to cause seizures, or affect learning, mood, or behavior.
- Seizures occur in 60-90% of people who have TSC. Young children may have infantile spasms which are clusters of seizures that resemble a startle reflex. Medications can help treat these seizures and help reduce impact on function.
- About 80% of children with TSC have a renal lesion by 10.5 years.
- Kidney growths are common in people with TSC.
- These growths can cause problems with kidney function. They may be life threatening in some cases.
- An increase in blood pressure, back pain, or blood in urine can be a sign of kidney tumor growth.
- Benign tumors (known as rhabdomyomas) that are usually present at birth and do not cause a problem unless they are in a spot that obstructs the flow of blood or causes a problem with the pacemaker. These benign tumors do not grow and may become smaller over time and may not be detectable by ultrasound as an adult.
- Arrhythmias (irregular heartbeats) are usually present early in life and are treatable. Rarely, the irregular heartbeat may persist.
- Tumors may occur in lungs (Lymphangioleimyomatosis (LAM)). Mean age of diagnosis of LAM is 28 years. However, these can occur in teenagers.
- More common in females than males (40% of women have LAM0
- Shortness of breath after mild exercise
- Lung collapse
Benign eye tumors (Hamaratomas):
- Don't usually cause symptoms
- Don't typically cause visual loss or problems
- Gum tumors and dental pits can be extensive in the adult teeth.
- Intellectual disability/developmental delay occurs in roughly 50% of individuals with TS.
- Early diagnosis and intervention is key.
- Attention deficit hyperactivity disorder (ADHD)\
- Behavioral and psychiatric disorders, often part of the autism spectrum disorders (ASD)
- About 25-60% are diagnosed with ASD