Tuberous Sclerosis Symptoms

Tuberous sclerosis can cause various symptoms that depend greatly on which area of the body is affected by the related tumors. Each individual may note different signs of the condition that differ greatly in presentation and severity.

The benign tumors characteristic of tuberous sclerosis commonly grow in the brain, kidneys, heart, eyes, lungs, and skin. The symptoms that result from these tumors are tied to the location they affect and the bodily functions that are reliant on that organ.

Tuberous Sclerosis: Benign Tumors that Develop in Organs of Children and Adults

Brain involvement

The most commonly reported symptom of tuberous sclerosis is a change in the function of the brain as a result of benign tumors that affect this major organ. There are three types of brain tumors that are often reported in tuberous sclerosis, which include cortical tubers on the surface of the brain, subependymal nodules (SEN) in the walls of ventricles, and subependymal giant-call astrocytomas (SEGA).

The majority of individuals affected by tuberous sclerosis will experience seizures at some point due to the presence of tumors in the brain. Various types of seizures can present, including tonic-clonic, tonic, akinetic, atypical absence, and myoclonic seizures. Infantile spasms are also common among infants with the condition and are often the first symptom to be noted.

Approximately 60% of children with tuberous sclerosis have a developmental delay that can vary greatly in severity, from a mild learning disability to mental retardation. Some behavioral problems may also present, such as aggression, attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and self-harming tendencies. About 1 in 3 of affected children meet the diagnostic criteria for autism spectrum disorder.

Kidney involvement

About 75% of individuals with tuberous sclerosis report problems in kidney function due to benign cysts that affect the organ. These are usually present between the late teen years up to the age of 30. The kidney tumors that arise due to tuberous sclerosis are usually small in size and cause limited inconvenience.

In some cases, the cysts may be larger in size or develop in bountiful quantities, similarly to polycystic kidney disease. Kidney function can be severely compromised in these cases, thus increasing the risk of kidney failure.

Angiomyolipoma is a benign growth of muscle and fatty tissue, which is the most common type of tumor found in the kidney. Although these tumors are common in people with tuberous sclerosis, they are also seen in people without the disease; therefore, this is a non-specific sign for tuberous sclerosis. Angiomyolipomas do not usually cause symptoms; however, in some cases where the tumors are particularly large, pain, weakness, and bleeding can occur.

Heart involvement

Infants with tuberous sclerosis are often found to have cardiac rhabdomyomas, which are typically detected before birth upon ultrasound examination of the prenatal fetus. The severity of these tumors depends on the size and number of the tumors. In some cases, cardiac rhabdomyomas can obstruct blood circulation from the heart and cause death.

However, if the tumors do not pose a major threat at birth, they are likely to shrink over time and do not usually affect adult individuals.

Eye involvement

Phakomas are benign tumors that can be found in the eyes of patients with tuberous sclerosis. In most cases, these tumors do not cause symptoms related to vision; however, their characteristic appearance with white patches on the retina can be used as a diagnostic indicator.

Lung involvement

Women with tuberous sclerosis are more likely to have lesions in the lungs as compared to men. Whilst many individuals with benign tumors are not symptomatic, some may suffer from breathlessness and other breathing difficulties.

Skin involvement

There are various skin abnormalities that affect people with tuberous sclerosis, which may include:

  • Hypomelanic macules – white patches on the skin
  • Facial angiofibromas – reddish bumps on face
  • Ungual fibromas – fleshy tumors around or under nails

These do not typically cause major problems. However, these skin abnormalities have a distinctive appearance that can help in the diagnosis of tuberous sclerosis.

References

Further Reading

Last Updated: May 23, 2021

Yolanda Smith

Written by

Yolanda Smith

Yolanda graduated with a Bachelor of Pharmacy at the University of South Australia and has experience working in both Australia and Italy. She is passionate about how medicine, diet and lifestyle affect our health and enjoys helping people understand this. In her spare time she loves to explore the world and learn about new cultures and languages.

Citations

Please use one of the following formats to cite this article in your essay, paper or report:

  • APA

    Smith, Yolanda. (2021, May 23). Tuberous Sclerosis Symptoms. News-Medical. Retrieved on September 20, 2021 from https://www.news-medical.net/health/Tuberous-Sclerosis-Symptoms.aspx.

  • MLA

    Smith, Yolanda. "Tuberous Sclerosis Symptoms". News-Medical. 20 September 2021. <https://www.news-medical.net/health/Tuberous-Sclerosis-Symptoms.aspx>.

  • Chicago

    Smith, Yolanda. "Tuberous Sclerosis Symptoms". News-Medical. https://www.news-medical.net/health/Tuberous-Sclerosis-Symptoms.aspx. (accessed September 20, 2021).

  • Harvard

    Smith, Yolanda. 2021. Tuberous Sclerosis Symptoms. News-Medical, viewed 20 September 2021, https://www.news-medical.net/health/Tuberous-Sclerosis-Symptoms.aspx.

Comments

The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of News Medical.