Tuberous Sclerosis: Causes, Symptoms, Diagnosis, Treatment

Tuberous Sclerosis is a rare genetic disorder in which there is growth of benign lesions in various parts of the body like skin, brain, and kidneys etc. The symptoms of Tuberous Sclerosis are significantly variable and may vary from light colored skin patches to potentially serious seizures or behavioral disorder, which depends on where the lesions grow in the body. This disease is usually not diagnosed in infancy or early childhood. In some instances, this condition may be unable to be diagnosed till the child becomes an adult even though the child may be having minimal symptoms of the disease for a significantly prolonged period of time. There is no definitive cure for Tuberous Sclerosis; however, with proper care and treatment affected individual lead more or less a normal healthy lives.

Tuberous Sclerosis as stated is a genetic disorder which is caused by mutations in TSC1/TSC2 gene. Usually, the function of these genes are to ensure that the cells do not grow at an abnormally fast pace, but mutations in these genes cause the cells to grow abnormally fast resulting in numerous benign lesions throughout the body. The reason for the mutations in these genes is still a matter of ongoing research.

Some of the symptoms of Tuberous Sclerosis are:

• Skin Abnormalities: Many individuals with this disease develop light colored patches in the skin or abnormal growth around the nail. There may also be facial lesions which may be similar to that in acne.
• Neurological Symptoms: If the lesions develop in the brain, then it may lead to seizures, learning disabilities and developmental delays. Some children may become hyperactive or abnormally aggressive. There may also be problems with adequate communication and interaction with peers. Autism is also a symptom of Tuberous Sclerosis affecting the brain.
• Kidney Dysfunction: If there is development of lesions in the kidney then it may cause potentially serious complications.
• Lung Disorders: If lesions develop in the lungs then it may cause frequent coughing or shortness of breath.

To diagnose Tuberous Sclerosis, a multidisciplinary approach is required where the child suspected of having Tuberous Sclerosis will be evaluated by multiple specialists across all specialties. Your child will likely be evaluated by several different specialists, including Neurology, Cardiology, Ophthalmology, Dermatology, and Nephrology. A battery of tests may be ordered to confirm the diagnosis of Tuberous Sclerosis.

In case if the brain is affected by Tuberous Sclerosis resulting in seizures, then an EEG will be performed to look at the electrical activity of the brain and identify the cause of the seizures

To identify growths in the kidneys, the following studies will be ordered:

• MRI scan
• CT scan
• Renal ultrasound.

To identify a cardiac dysfunction due to Tuberous Sclerosis, an EKG will likely be performed.

There is no definitive cure for Tuberous Sclerosis but treatment is aimed at controlling symptoms and minimizing complications resulting from Tuberous Sclerosis.

• Medication For Tuberous Sclerosis: Antiepileptic medications may be given for control of seizures. Medications for controlling behavior problems can also be given. A medication called Zortress is sometimes given to treat certain growths in the brain which cannot be removed surgically. Another medication useful for growths due to Tuberous Sclerosis in the brain or other areas of the body is Rapamune. When used in its topical form it helps with the skin lesions that develop due to Tuberous Sclerosis.
• Occupational Therapy For Tuberous Sclerosis: It is a reasonably good modality to improve an individual’s ability to handle day to day affairs more easily.
• Surgery For Tuberous Sclerosis: A surgical procedure may be required to remove the lesion in case if the lesion starts affecting the function of a vital organ of the body like the kidneys and Lungs.