Tuberous sclerosis Save
ICD-10 code: Q85.1
Chapter: Congenital malformations, deformations and chromosomal abnormalities
Tuberous Sclerosis: Causes, Symptoms, and Treatment
Tuberous sclerosis is a rare genetic disorder that affects the growth of noncancerous tumors in various parts of the body, including the brain, heart, kidneys, skin, and lungs. It is caused by mutations in the TSC1 or TSC2 genes, which normally regulate cell growth and division.
Symptoms of tuberous sclerosis can vary widely depending on the location and size of the tumors. They may include:
- Seizures or epilepsy
- Developmental delays or intellectual disability
- Behavioral problems, such as hyperactivity or aggression
- Skin abnormalities, such as white spots or patches
- Benign tumors in the kidneys or other organs
Diagnosis of tuberous sclerosis typically involves a combination of physical exams, imaging tests, and genetic testing. Treatment options may include medication to control seizures, surgery to remove tumors, or therapy to address behavioral or developmental issues.
Early diagnosis and intervention are key to managing the symptoms of tuberous sclerosis and improving quality of life for those living with the condition. If you or a loved one is experiencing symptoms of tuberous sclerosis, it is important to speak with a healthcare provider and receive a thorough evaluation as soon as possible.