Tuberous sclerosis: causes, Symptoms and cure

Since the last few decades, we have heard news reports of well-known stars, bureaucrats and celebrities succumbing to different form of tumors. Deaths arising due to tumors of the vital organs are increasing at alarming rate. Well, tumors are medically termed as ‘Tuberous Sclerosis’ or Tuberous Sclerosis Complex. A rare genetic condition, it is described as growth of tumors in the skin and central nervous system. Tumors affect vital organs such as her vital organs such as kidneys, heart, eyes, lungs and skin. Normally, such tumors are non-cancerous.

Commonly known as Lou Gehrig’s Disease, at least two children are born everyday with signs of tuberous sclerosis. Currently, nearly one million people around the world suffering from this disease. Out of which, United States tops the list with over 50000 people suffering.

CAUSES

Tuberous Sclerosis is a genetic disorder. It is caused by mutations on two genes and its production of protein.

  • TSC1-It produces hamaratin
  • TSC2-It produces protein tuberin

Genetic experts believe that these proteins act as tumor growth suppressors that regulate cell proliferation and differentiation. These genes are transmitted either through genetic inheritance or spontaneous genetic mutation.

SYMPTOMS

Tuberous Sclerosis can affect any part of the body. The symptoms vary from individuals to individuals, ranging from mild to severe. The symptoms may be in the form of

  • Tumors
  • Seizures
  • Mental retardation
  • Behavior problems
  • Skin abnormalities

Tumors develop in the brains, kidneys, heart, lungs and skin.

Kidney problems: Cysts, renal cell carcinoma and angiomyolipoma
Brain tumors: Cortical tubers: Found on the surface and deep within the brain
Subependymal nodules: Found in the walls of the ventricles
Astrocytomas: Blockage of fluids causing headaches and blurred vision.
Heart tumors: Cardiac rhabdomyomas, showing symptoms of blockage of blood circulation
Benign tumors: It is found in the eyes of individuals with white patches on the retina.

DIAGNOSIS

Tuberous sclerosis is detected in the following ways:

  • MRI or CT Scan of the brain
  • Renal ultrasound
  • Echocardiogram of the heart,
  • Eye exam
  • Wood’s Lamp evaluation of the skin.

TREATMENT

So far, there is no permanent cure for patients affected with tuberous sclerosis. However, there are advanced techniques to treat this ailment, which so far have proven to be successful.

Antiepileptic drugs: To control seizures.
Medications and intervention programs: To correct behavior problems through special schooling and occupational therapy.
Laser treatment: For treating skin lesions.

Normally, patients with tuberous sclerosis live a normal life. Barring a few complications and difficulties, patients should be monitored throughout their life to detect further complications and symptoms.

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