The Australasian Tuberous Sclerosis Society

Updated November 2009: Clinical Guidelines now available.

Tuberous Sclerosis Complex (TSC) is a genetic disorder that affects people in many different ways. It is a complex genetic disorder, affecting individuals with different degrees of severity. Some people with the disorder are totally unaffected and may go through life without the diagnosis ever having been made; others are only diagnosed when their child is found to have the condition.

Tuberous Sclerosis Complex (often referred to simply as Tuberous Sclerosis) derives its name from the tuber-like growths on the brain, which calcify with age and become hard or ‘sclerotic’. These tubers are detected using Magnetic Resonance Imaging (MRI). Abnormal TSC growths can affect almost any other organ of the body (including the skin, eyes, heart, kidneys and lungs).

Symptoms of Tuberous Sclerosis

There are a number of different signs of TSC, although not all are necessary to make the diagnosis. A combination of one or more of these various signs may suggest TSC.

Skin

The earliest sign may be white skin patches (de-pigmented patches), especially on the limbs and body,  which can sometimes be seen from birth. They donot cause any problems and often disappear later in life.
As a child grows older other skin signs may develop, including a characteristic facial rash (correctly termed
facial angiofibroma) across the nose and cheeks. At first this rash starts as red pin-point spots, but later these spots can become small bumps and the redness fades. During adolescence or even later, small fibromas or nodules of skin may form around finger or toenails.

Developmental delay

Approximately 1 in 2 people with TSC will show signs of learning difficulty, although the degree of difficulty
will vary tremendously. By the age of two years it is usually clear whether or not a child with TSC will have
developmental problems.

Epilepsy

Because the brain may have some abnormal TSC cells, there is a tendency for children with TSC to develop
various forms of epileptic seizures. These often start with infantile spasms. As the child grows older the seizures may change and sometimes cease altogether.

Behaviour

Sometimes people with TSC may show autistic and hyperactive tendencies or attention problems.

 How common is Tuberous Sclerosis?

Tuberous Sclerosis is more common than generally realised. It is thought to affect approximately 1 in 6,000 people.

What is the Outlook?

The effects of TSC vary greatly. Over 50% of people with TSC are intellectually normal and lead perfectly normal lives, but others have learning difficulties to a greater or lesser extent. There are rarely problems with mobility in TSC.

Contrary to what has been believed for many years, the prognosis for patients with the condition is very
good. The life expectancy for the great majority of people with TSC is normal, even for those with severe learning difficulties and epilepsy.

What is the treatment? Is there a cure?

Unfortunately there is no cure for TSC, but there is treatment available for a number of symptoms. It is
important to get expert advice on antiepileptic drugs for those with epilepsy so that the best possible control can be achieved without over-sedating the patient. There are various treatments possible for the facial rash, and the advice of a dermatologist should be sought if the rash causes the patient concern. Many people with TSC have normal intelligence, but some children begin to show developmental delay when seizures start.

As the child grows older it sometimes becomes clear that they are not keeping up with other children of their age in certain areas of development. Speech and communication are particular areas which may need help as early as possible. Home teachers, play groups, toy libraries, speech therapy and physiotherapy can all help children achieve their full potential.
Social workers, occupational therapists and health visitors may give advice and information, and the
Australasian Tuberous Sclerosis Society Inc. (ATSS) can be a source of help, support and encouragement.

A great resource to help manage TSC is the Clinical Guidelines offered by ATSS.

Could other family members or future children be at risk?

Once someone has been diagnosed as having TSC it is important that the immediate family is investigated to
determine whether or not this is the first family member with TSC. In about 70% of cases TSC has come
as a ‘bolt from the blue’, the result of a new genetic mutation, and no-one else in the family is affected.
People can have TSC without any symptoms, and it is most important for the parents and siblings to find
out whether or not they also carry the TSC gene because anyone with this gene has a 1 in 2 chance of passing it on to any child they might have.

Can my unborn child be tested for TSC?

Gene mistakes or mutations in one of two genes are responsible for TSC. An affected individual has a faulty copy and a normal copy of one of the TSC genes. TSC is usually diagnosed through assessment of symptoms rather than gentic testing. The current genetic test is costly and difficult, so it is not widely available. The result does not provide information about the severity of the condition if a mutation is present.

Genetic counselling is recommended for all families affected by TSC.