Tuberous sclerosis

Symptoms

What are the main symptoms of tuberous sclerosis?

Tuberous sclerosis (TS) is a highly variable disorder. This means how the medical issues affect one person can be very different from how it affects another person. This is true for people in the same family. The potential list of symptoms for tuberous sclerosis is long, but an individual may have many symptoms or only a few.

The main symptom is the formation of benign tumors. Benign tumors are not cancerous; they do not spread (metastasize) to other areas of the body. However, they can grow and damage the surrounding organs and tissue. The skin, brain, eyes, heart, kidneys, and lungs are the most commonly affected organs. However, any organ system can be involved.

Nearly all people have problems affecting the skin. Infants may have white patches or spots on their skin. The affected skin may be lighter than the surrounding skin and can easily be missed on infants with fair skin. Between 3 and 5 years old, some children develop small bumps or red spots called angiofibromas. Angiofibromas most often appear on the face. Some people develop a dimpled, rough skin rash or patch of skin called a shagreen patch. There may be raised, thickened patches of skin called fibrous plaques.

In some people, the central nervous system is affected. Benign tumors in the brain can also push against, or compress, brain tissue causing pressure on the brain or damage to brain tissue. This can cause seizures in infants, although seizures can first occur at any age. In some infants and children, there may be delays in reaching developmental milestones, and can lead to behavioral, psychiatric, sleep disorders, and intellectual difficulties. Some children may have autistic-like behavior, attention deficit hyperactivity disorder (ADHD), and disruptive behaviors or emotional problems. Some will have intellectual disability or experience learning disabilities. Some children have hydrocephalus, a condition where cerebrospinal fluid, the clear fluid that surrounds the brain and spinal cord, abnormally builds up in the brain. This puts pressure on the brain and can cause a variety of symptoms.

Many people with tuberous sclerosis will have tumors form in the kidneys. One type of tumor is called an angiomyolipoma. Over time, these tumors will grow larger and more may form as children age. These tumors may not cause symptoms or they can cause pain and worsening function of the kidneys. They can rupture causing bleeding that potentially can become life-threatening. Some people may develop cysts on the kidneys.

Some adults with tuberous sclerosis will develop a lung disorder called lymphangioleiomyomatosis or LAM. This is more common in women. LAM can cause difficult breathing or coughing, particularly following exercise or other physical activity. The disorder slowly gets worse and can cause a collapsed lung or fluid to accumulation around the lungs. In women, LAM tends to worsen during pregnancy.

Small benign tumors may form on the retina, which is the thin layer of nerve cells lining the back of the eyes. The retina senses light and converts it to nerve signals that travel to the brain along the optic nerve allowing us to see. They usually do not cause symptoms or affect vision.

A tumor in the heart, called a rhabdomyosarcoma, can form. This tumor usually affects infants or young children. This tumor can sometimes be detected before birth. These tumors usually shrink on their own and disappear without causing problems. However, sometimes they can interfere with or obstruct blood flow in the heart. This can cause problems like irregular heartbeats and can require treatment.

These are just some of the issues that tuberous sclerosis can cause. Other organs symptoms can be affected as well. The specific symptoms relate directly to the organ systems that are affected. Support groups offer extensive information about tuberous sclerosis. These groups include: the Tuberous Sclerosis Alliance in the United States, the Tuberous Sclerosis Association in the United Kingdom and the Tuberous Sclerosis Canada Sclerose Tubereuse.

References
  • Tuberous Sclerosis. The National Organization for Rare Disorders website. Accessed June 8, 2017. https://rarediseases.org/rare-diseases/tuberous-sclerosis/
  • Owens J, Bodensteiner JB. Tuberous sclerosis complex: genetics, clinical features and diagnosis. UpToDate Inc. website. Accessed May 24, 2017. www.uptodate.com/contents/tuberous-sclerosis-complex-genetics-clinical-features-and-diagnosis
  • Northrup H, Koenig MK, Pearson DA, et al. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2018 Jul 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1220 Accessed 11JAN2020.
  • What is Tuberous Sclerosis? The Tuberous Sclerosis Alliance website. Accessed June 8, 2017. http://www.tsalliance.org/about-tsc/what-is-tsc/
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What are TAND problems in tuberous sclerosis?

What are TAND problems in tuberous sclerosis?

Some children and adults with tuberous sclerosis (TS) have differences in how their brain functions-- a combination of behavioral, psychiatric, intellectual, academic, neuropsychological, and psychological problems called TS-related neuropsychiatric disorders or TANDs. Such problems may include autistic-like behaviors, attention deficit hyperactivity disorder, sleep problems, disruptive behaviors, emotional problems, and learning and cognitive issues. Not everyone with TS develops these problems. In people who do, the specific problems and their severity can differ greatly. The Tuberous Sclerosis Alliance has information and support for people with tuberous sclerosis. The Arc, is an organization that provides support for people with intellectual and developmental problems.

References
  • Tuberous Sclerosis. The National Organization for Rare Disorders website. Accessed June 8, 2017. https://rarediseases.org/rare-diseases/tuberous-sclerosis/
  • Northrup H, Koenig MK, Pearson DA, et al. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2018 Jul 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1220 Accessed 11JAN2020.

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