Tuesday, Jul 29, 2014 | 11:00 PM

Madisons Foundation - Moms And Dads In Search Of Needed Support

Tuberous Sclerosis
Saturday, 26 July 2003
Tuesday, 17 February 2004

What

Tuberous Sclerosis is a genetic developmental disorder associated with a disorganized growth of body tissue (tubers) in the various organs of the body such as the skin, nervous system, heart, kidneys, lungs, eyes, and muscles. Tubers cause problems by interfering with the normal functioning of the affected organs. Tubers grow as the child grows.

Who

Males and females are equally likely to get tuberous sclerosis, and it can be found in all races. It affects approximately 1 in 5,800 live births. This disorder can be inherited from a parent who carries the gene that causes the disorder. Tuberous Sclerosis is autosomal dominant, meaning that the child needs to receive only one copy of the TS gene from a one parent in order inherit the disorder. With each pregnancy, these parents will have a 50% chance of having a child with Tuberous Sclerosis disorder. The expression of the disorder is variable, meaning that the child who inherits the disorder may have only certain skin findings which help identify the disease, or the child may exhibit severe symptoms such as seizures and mental impairment.

Signs and Symptoms

Individuals with TS may have few or most of the following symptoms of findings on physical examination. Tubers when filled with blood are named hamartomas and appear in any body organ or structure. - white patches on the skin, mainly on the trunk and extremities, known as ash-leaf spots; which are present at birth or shortly after - red progressive rash - pink-yellow plaques (adenoma sebaceum) on the face - orange peel patch (shagren patch) on small of back - seizure disorders or infantile spasms caused by calcium deposits in the brain, often associated with mental impairment and autism like symptoms - hamartomas especially affecting the kidneys, heart, lungs, liver, retina, - fleshy growth around finger and toenails

Possible Causes

Changes in two genes TSC1 and TSC2, which are on chromosomes 9 and 16 respectively, have been found to be the cause of TS.

Diagnosis

The diagnosis of TS is based on clinical findings. Having ash-leaf spots is highly suggestive that an individual has inherited the disorder. However, a family history and various types of studies such as ultrasound of the kidneys, imaging of the brain, and heart assessment must be done to confirm the diagnosis. Molecular DNA genetic testing is available and can detect approximately 30% of the cases.

Treatment

Treatment depends on the location and severity of the above symptoms. Regular check ups are recommended to monitor any tumor growth affecting the body functions. Blood and urine tests can detect deviations from normal in liver, heart and kidney functions. Vision and hearing tests ensure normal ability to see and hear or deterioration over time. Growth of the tumors can cause pain and discomfort. Enlarged tumors can also cause such conditions as liver failure, abnormal heart beats, blindness, kidney failure, hydrocephalus (fluid collection in the brain), seizures and mental deterioration. Medical specialists are needed for the specific difficulties experienced by the child. A variety of medications is available to preserve body functioning and surgical removal of the tumors is possible if the organs have not been too involved.

Prognosis

With slow growth of the tumors, children can live and function quite normally with a normal life span. Most children have normal intelligence while some children may have a learning disability. With numerous, large and invasive tumors, the quality of life can be difficult and life expectancy might be reduced.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

The Tuberous Sclerosis Association
A site based out of the U.K. dedicated to providing information and support to families affected by the disease. There is also information on ongoing research.

Tuberous Sclerosis Alliance 
A well organized website aimed at providing information about the disease as well as available support. There are also links to ongoing support.

National Institute of Neurological Disorders and Stroke
A well written summary of the disease with links to ongoing clinical trials.

Google Search for Tuberous Sclerosis

References and Sources

Color Atlas and Synopsis of Clinical Dermatology- 4th ed. (2001) Part II- Dermatology and Internal Medicine Section 13. Genetic, Metabolic, Endocrine, and Nutritional Diseases Tuberous Sclerosis. www.online.statref.com Current Pediatric Diagnosis and Treatment- 16th ed. (2002) 23. Neurologic and Muscular Disorders- Paul G. Moe M.D., Alan R. Seay M.D. Disorders Affecting the Nervous System in Infants and Children www.online.statref.com Griffith’s 5 Minute Clinical Consult 11th ed. (2003) www.online.statref.com