TUBEROUS SCLEROSIS

Tuberous sclerosis, likewise called tuberous sclerosis complex, is a rare genetic condition that causes noncancerous or benign tumors in many parts of the body. Signs and symptoms shift generally, contingent upon where the tumors are located and how seriously an individual is affected.

Tuberous sclerosis is usually identified during infancy or youth. A few people with tuberous sclerosis have such mild signs and symptoms that the condition isn’t found out until adulthood, or it goes undiscovered. Others experience disabilities.

In spite of the fact that there is no treatment for tuberous sclerosis, and the course or seriousness of the disease can’t be predicted, treatments are there to relieve symptoms.

SYMPTOMS

Tuberous sclerosis symptoms are brought about by benign tumors in parts of the body, such as in the brain, eyes, kidneys, heart, lungs and skin, though other parts of the body can be affected. Symptoms can go from mild to extreme, depending on the the size of the rumor or area of occurrence.

In spite of the fact that the signs and symptoms differ in every individual with tuberous sclerosis, these can include:

Skin problems

Many people with tuberous sclerosis have light colored patches in the skin, or they may grow little, innocuous regions of thickened and smooth skin or red bumps under or around the nails. Facial lumps that start in youth and are similar to acne may also occur.

Seizures

Brain tumors might be related to seizures, which can be the primary symptoms of tuberous sclerosis. In little children, a typical kind of seizure called infantile spasm appears as tedious fits of the head and legs.

Cognitive Problems

Tuberous sclerosis can be related to delays in development or intellectual incapacity or learning inabilities. Psychological problems such as autism spectrum disorder or attention-deficit/hyperactivity disorder (ADHD), also can occur.

Behavioral issues

Usual behavioral problems may include hyperactivity, self-injury or hostility, or social problems.

Kidney problems

Many people with tuberous sclerosis may have benign tumors on their kidneys, and they may grow more tumors as they age.

Heart problems

Tumors in the heart, if present, are generally huge at birth and may diminish as the child grows older.

Lung problems

Tumors in the lungs may cause cough or breathing difficulty, particularly with physical movement or exercise. These benign lung tumors happen usually more in women than in men.

Eye problems

Eye growths can show up as white patches on the retina. These noncancerous lumps don’t generally obscure vision.

DIAGNOSIS

The physician will do a physical exam, examine symptoms and family history, and search for the typical lesions of tuberous sclerosis. The doctor will likewise request for tests such as genetic tests to diagnose tuberous sclerosis and distinguish related issues.

To identify tumors in the body, testing will probably include:

  • Magnetic resonance imaging (MRI)
  • Computerized tomography (CT) scan
  • Ultrasound
  • Echocardiogram
  • Electrocardiogram (ECG or EKG)
  • Eye exam

Developmental or psychiatric evaluation may also be done.

TREATMENT

In spite of the fact that there is no treatment for tuberous sclerosis, some therapies can help manage symptoms such as:

  • Anti-seizure medications may be prescribed to control seizures
  • Medications for heart arrhythmias
  • Medicines for behavior problems
  • Surgery
  • Occupational, physical or speech therapy
  • Educational and vocational services
  • Psychiatric and behavior management

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