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Tuberous Sclerosis

Medically Reviewed by The Medindia Medical Review Team on Jul 26, 2013


About

Tuberous Sclerosis is genetic disorder characterized by growth of benign tumors in many parts of the body, including brain, skin, lungs, kidney and heart.


Tuberous sclerosis is a rare genetic disorder caused either by mutation or inherited as an autosomal dominant trait. The disease is characterized by growth of multiple benign tumors in many parts of the body, such as brain, skin, lungs, kidney and heart. These tumors may calcify and become hard and sclerotic with age.

Tuberous sclerosis affects individuals irrespective of age, sex and gender. Affected individuals especially children experience significant health problems like intellectual disability, seizures, mental retardation, autism or developmental delay. Skin changes are common in these individuals.

Mutations in 2 genes - TSC1 and TSC2 are responsible for the development of tuberous sclerosis. These genes code for two proteins, tuberin and hamartin, respectively, which act as tumor suppressors.

Symptoms and Signs of Tuberous Sclerosis

Skin Manifestations:

Individuals affected with tuberous sclerosis develop characteristic skin lesions:


Nervous system-related Symptoms:

Cardiac Symptoms:

Individuals with tuberous sclerosis may develop heart-related symptoms during early infancy. Heart tumors are responsible for the abnormalities like abnormal heart rhythm. The tumors often decrease in size with age.

Lung Symptoms:

Some individuals with tuberous sclerosis may develop benign lung tumors and present with symptoms like shortness of breath, coughing, and difficulty in breathing especially after exertion or exercise. Progression of disease with age may lead to lung failure.


Kidney Symptoms:

Kidney manifestations are the second common clinical feature of tuberous sclerosis. Kidney cysts and tumors affect the normal function of the kidney; if untreated, it could progress to kidney failure. Some patients develop kidney cancer.

Dental Symptoms:

Individuals with tuberous sclerosis may present the dental abnormalities like multiple dental pits and thickenings in the gums. Around 50% of children may show mixed dentition i.e., both milk teeth and permanent teeth are present. Some show the presence of only milk teeth.

Others:

Other manifestations include:

Diagnosis of Tuberous Sclerosis

Tuberous sclerosis is diagnosed based on family history and physical examination.

Laboratory tests and imaging studies are used to confirm the diagnosis.

Laboratory Studies:

Laboratory studies are indicated:

Imaging studies:

Imaging studies are used to identify abnormal growths in various parts of the body.

Magnetic resonance imaging (MRI) studies and Computed tomography (CT) are most sensitive screening imaging studies especially for brain tumors. Ultrasound is used to detect kidney lesions.

Echocardiography and Electrocardiography (ECG): These are tests done to check for cardiac structure and function.

Electroencephalography: This test is performed in patients with tuberous sclerosis in whom seizures are suspected.

Treatment of Tuberous Sclerosis

Currently, there is no cure for the disease; however, surgical intervention and symptomatic treatment with antiseizure medications may help affected individuals.

Medication:

Surgical Therapy:

It is necessary to undergo regular dental check up and kidney ultrasounds to detect for new lesions.

Genetic counseling is useful for patients and their families and also helps to diagnose the disease during prenatal period.

Tuberous Sclerosis is a lifelong condition; therefore individuals should be regularly monitored by an experienced physician.

References:

  1. Syed KN. Tuberous Sclerosis. J Pak Med Assoc 2010; 60:8: 683-5.
  2. Tuberous Sclerosis - (http://emedicine.medscape.com/article/1177711-overview)
  3. About Tuberous sclerosis - (http://www.mayoclinic.com/health/tuberous-sclerosis/DS01032/DSECTION=risk-factors)
  4. Hurst JS, Wilcoski S. Recognizing an Index Case of Tuberous Sclerosis. Am Fam Physician. 2000;61(3):703-708.

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