What is Tuberous Sclerosis?

What is Tuberous Sclerosis? Tuberous Sclerosis is part of a group of disorders identified as Neurocutaneous Syndromes, primarily affecting the central nervous system and the skin. Tuberous Sclerosis is an uncommon genetic disorder relating to mutations in the genes TSC1 and TSC2, which genetically code for the proteins hamartin and tuberin. These proteins act as tumor growth suppressors that regulate cell proliferation and differentiation. As a result of these mutations, multiple micro-tumours within the central nervous system, skin, heart and kidneys occur.  Excess growth of normal cells occurs in many organs throughout the body and these are seen as micro tumours. As a child grows, these tumours will often calcify (leading to the term sclerosis) and as this occurs, many children affected by Tuberous Sclerosis will lead normal lifestyles after the age of 2 and almost all persons diagnosed with Tuberous Sclerosis will have similar life expectancies as people without Tuberous Sclerosis.

It is estimated that approximately fifty percent of the people born with Tuberous Sclerosis will lead normal lives with no apparent intellectual dysfunction or epilepsy.

Signs and Symptoms of Tuberous Sclerosis

The signs and symptoms of Tuberous Sclerosis include:  white patches on certain areas of the skin as a result of decreased pigmentation; red patches on the face containing many blood vessels, known as an adenoma sebaceum; raised orange-peel patches on the skin (most commonly found on a patient’s back); developmental delays, chronic seizures; and rough non-malignant tumours on the tongue.

Treatment of Tuberous Sclerosis

There is no known treatment for the disorder Tuberous Sclerosis; however, treatment options include managing the symptoms of the disorder, such as anti-epilepsy medications to control seizures.

Paramedic treatment of Tuberous Sclerosis often involves treating the acute symptoms of the disorder, including: managing the patient’s airway and seizure control with the use of benzodiazepines (such as midazolam). Often, parents of children with Tuberous Sclerosis may poorly understand the disorder, because their children may have only recently been diagnosed. Alternatively, some parents will know far more about Tuberous Sclerosis than most doctors. It is important to ask the parents about how the child is normally, and how things have changed today. Reasurance for the parents is just as important as clinical treatments for the child in these circumstances.