Tuberous sclerosis is a genetic disorder marked by the presence of lesions and seizures. Children affected with this disorder will have moderate mental retardation. Lesions are formed on the bones.
Symptoms :
The symptoms of tuberous sclerosis may range from mild to severe. Tumors can form in any part of the body like heart, brain and even kidneys. For some children lesions can grow in the nervous system or in the lungs or in the retina of the eyes. Tumors can form on the skin causing scaly raised patches. For many people skin abnormalities are seen around the nails.
It can affect the nervous system if lesions are formed in the brain. It can cause symptoms like seizures, learning disability and impaired intellectual ability. Such children may be hyperactive and can behavioral problems affecting their communication. Lesions can form in the kidneys causing life threatening problems. In severe cases tumors grow in the lungs causing problems in breathing. If your child has suddenly developed lesions on his face with pink colored rashes on the skin along with neurological problems you need to visit your doctor immediately.
Causes :
Tuberous sclerosis is caused by genetic problem or by defective gene mutation. There can be abnormality in the TSC1 and TSC2 gene causing overcrowding of cells which eventually develop into tumor or lesions in the body.
Risk Factors :
Children with history of parents having tuberous sclerosis can develop this disorder or they can be carriers of defective genes. A person with this disorder has 50% chances to pass on the disorder to his/her child. Lesions in vital organs like heart, kidney and brain can be potentially dangerous and should be treated without delay.
Tests :
Your doctor will collect the family history of the affected child and look for the symptoms. He may order for series of tests like EEG to check any abnormality in the brain or nervous system, CT scan or MRI scan to get clear picture of the brain.