Tuberous Sclerosis

1 What is Tuberous Sclerosis?

Tuberous sclerosis is a rare genetic disorder that results in growth of non-cancerous (benign) tumors to grow in many parts of the body.

Signs and symptoms depend mostly on the location of the tumor and the severity of the tumor growth. It is often detected during infancy but there are some cases that go undiagnosed.

There is no cure for this disease but symptomatic relief can be provided by various medications and surgical procedures. The disease can be kept in control with proper care.

2 Symptoms

Symptoms of tuberous sclerosis may range from mild to severe. The benign tumors grow in many parts of the body including brain, kidney, heart, lungs and skin. 

Following are the typical lesions in tuberous sclerosis:

  • Skin abnormalities - having patches of light-colored skin, some areas of thickened skin, growths around nails and facial lesions that resemble acne are some of the examples.
  • Seizures - this is often the first symptom to be associated with tuberous sclerosis and it occurs due to tumorous growth in the brain. Infantile spasms are common in children which manifests itself as repetitive spasms of head and leg.
  • Developmental delay - intellectual disabilities, learning disabilities or developmental delays may arise in this disease in children.
  • Behavior problems - some common behavior problems may occur like hyperactivity, raging outbursts, aggression, social or emotional withdrawal. Some children may have problems in communicating with others.
  • Kidney disorders - Tuberous sclerosis may lead to lesions in the kidney and it takes a chronic course.
  • Heart problems - Such lesions are larger at birth and shrink with age.
  • Lung problems - Coughing, shortness of breath especially with light physical activity may develop with lesions in the lung. They are also called pulmonary leiomyoma.
  • Eye abnormality - It includes white patches on the retina. They do not interfere with vision always.
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3 Causes

Tuberous sclerosis is a genetic disease caused by mutations in TSC1 or TSC2 gene. These genes prevent cells from uncontrolled mitosis (cell division). Therefore, mutation in these genes lead to the development of tuberous sclerosis.

4 Making a Diagnosis

Diagnosis of tuberous sclerosis mainly includes physical examination of the lesions present on skin.

Since the lesions are similar to other diseases, therefore, some medical screening tests are required such as biopsy (a small scrape is taken from lesion and sent for laboratory investigation), MRI (for brain lesions mostly), CT or X-ray might be the choice of doctors in case of heart and pulmonary lesions.

5 Treatment

Although there is no cure for tuberous sclerosis, symptomatic treatment can improve the quality of life. Treatments include:

  • Medications - Anti-epileptic drugs are prescribed to control seizures. The topical ointment called Sirolimus can be applied to treat the skin lesions occurring in tuberous sclerosis. Everolimus may be used to treat certain types of brain growths and kidney tumors.
  • Educational therapy - early intervention can help children cope up with developmental delays.
  • Occupational therapy - the ability to handle certain tasks are improved in this therapy.
  • Psychological therapy - Talking with a mental health therapist may improve the acceptance of the condition.
  • Surgery - Some lesions in kidney and heart can be removed surgically to improve healing. Some parts of the brain are removed to reduce seizures.

6 Prevention

Since tuberous sclerosis is genetic disorder, it is difficult to prevent. Therefore, it is advisable to have genetic counselling before having a child.

7 Alternative and Homeopathic Remedies

There are no alternative or home remedies for tuberous sclerosis.

8 Lifestyle and Coping

Lifestyle modifications are necessary in order to cope with tuberous sclerosis.

Tuberous sclerosis is a long term condition. It takes several years to develop and support may be required for whole lifetime.

Careful monitoring of the child’s health time to time and consulting a pediatrician who can help with the situation. 

Proper schedule must be established to perform screening. Continuous monitoring of this disease can be helpful.

Consulting psychiatrist to cope with mental problems caused by this disease.

Love and support must be given to the child and socialization with other families having similar situation will help to cope up better.

9 Risks and Complications

There are several risks and complications associated with tuberous sclerosis.

Risk factor for development of tuberous sclerosis include people with inherited gene responsible for uncontrolled cell growth. These genes are inherited from parents. 2/3rds of people with this disease acquire new mutations in TSC1 or TSC2 gene.

Severity of the condition depends on individual’s reactivity. Depending on the location, size and shape of the tumor, complications may vary from mild to life-threatening situations. Complications include:

  • Sub-ependymal giant cell astrocytoma (SEGA) - These lesions are found in brain and can block the flow of CSF leading to the development of hydrocephalus. Signs and symptoms include nausea, headache and behavior changes.
  • Lesion in the heart - blockage of blood flow or problems with rhythms may occur. Lesions in the kidney- hemorrhage and kidney failure can occur.
  • Lesions in the lungs - tuberous sclerosis can lead to pulmonary failure.
  • Eye - although blindness can happen, but it is rare.
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