Tuberous sclerosis Health Article

Treatment

There is no specific treatment for tuberous sclerosis. Because the disease can differ from person to person, treatment is based on the symptoms.

Medications are needed to control seizures, which is often difficult. Depending on the severity of the menal retardation, the child may need special education.

Small growths (adenoma sebaceum) on the face may be removed by laser treatment. These growths tend to come back, and repeat treatments will be necessary.

Rhabdomyomas commonly disappear after puberty, so surgery is usually not necessary.

Support Groups

For additional information and resources, contact the Tuberous Sclerosis Alliance at 800-225-6872.

Expectations (prognosis)

Children with mild tuberous sclerosis usually do well. However, children with severe retardation or uncontrollable seizures usually do poorly. Occasionally when a severely affected child is born, the parents are examined, and one of them is found to have had a mild case of tuberous sclerosis that was not diagnosed.

The tumors in this disease tend to be non-cancerous (benign). However, some tumors (such as kidney or brain tumors) can become cancerous.

Complications

• Brain tumors (astrocytoma)
• Heart tumors (rhabdomyoma)
• Severe mental retardation
• Uncontrollable seizures

Calling your health care provider

Call your health care provider if:

• Either side of your family has a history of tuberous sclerosis
• You notice symptoms of tuberous sclerosis in your child

Call a genetic specialist if your child is diagnosed with cardiac rhabdomyoma. Tuberous sclerosis is the leading cause of this tumor.

Prevention

Genetic counseling is recommended for prospective parents with a family history of tuberous sclerosis. Prenatal diagnosis is available for families with a known DNA mutation. However, tuberous sclerosis often appears as a new mutation, and these cases are not preventable.

References

Haslam RHA. Neurocutaneous Syndromes. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 596.