Tuberous Sclerosis Complex is caused by an alteration in one of the two genes which regulate cell growth. As a result extra growth of normal tissue develops in organs of the body. For some people these growths may not cause any problems but for others they can result in specifc problems in the functioning of one or more of the organs.

Heart

Cardiac rhabdomyomas (benign heart tumours) may be an early sign of TSC. They may develop in the unborn baby and be picked up during routine antenatal scanning. They rarely cause a problem and frequently regress so that they seem to disappear as the child grows.

Brain

People with TSC may have growths in their brain (cortical tubers and supendendymal nodules). Some may have both types of growth while others may have none. Very rarely people can have a growth in their brain which continues to grow slowly and can block the drainage of fluid in the brain (hydrocephalus). This tumour is called a subependymal giant cell tumour or SGCT for short (sometimes it is also called a subependymal giant cell astrocytoma or SEGA for short). It occurs in less than 5 per cent of people with TSC and usually when they are children or young adults. If it blocks the drainage of the fluid of the brain, it may cause any of the following, and requires urgent medical treatment: severe headaches, muscle weakess and vomiting.

Epilepsy

Not everyone with TSC has epilepsy but it occurs in approximately 70 per cent of people. It is likley that the cortical tubers are the cause of epilepsy. Epilepsy in TSC can start at any age, but most people who have TSC and epilepsy start seizures in childhood. They often start as infantile spasms (salaam fits) in the first two years of life. These only last a few minutes and involve a sudden jerk of the trunk and limbs followed by a stiffening of the muscles. Sometimes infantile spasms are mistaken for colic. Drugs are available now which are better at controlling infantile spasms. It is much less likely that someone will develop epilepsy for the first time in adulthood. There are lots of different types of seizure and over time seizures may change, become more or less frequent or even stop. It is not always possible to control all the seizures that someone with TSC has. There are many anti-epileptic drugs available and sometimes different drugs and different doses need to be tried to find the ones which work best. For a small number of people non-drug treatments such as special diets, surgery or an electrical stimulator positioned under the skin (vagal nerve stimulator or VNS for short) may be of benefit.

Developmental Delay and Behavioural issues

Whilst 40-50% of people with TSC have normal inteligence, the remainder have learning and developmental problems ranging from mild areas of difficulty to 25% with severe disabilities. Early intervention is recommended.

About 25% of people with TSC have austic spectrum disorder (ASD) and another 25% show aspects of ASD, including higher functioning autism or Asperger’s Syndrome. Attention deficit and hyperactivity are often found in children, and anxiety, paranoia and depression are commoner in adults. Sleep disturbance can also be a problem and is usually associated with epilepsy.

Skin

There a number of skin signs associated with TSC:

• White skin patches (depigmented patches called hypomalenic macules), especially on the limbs and body, can sometimes be seen from birth. They do not cause any problems.
• A facial rash (called angiofibromas) may start to develop in childhood as small red spots across the nose. It is sometimes more noticable during teenage years as puberty can make it worse.
• Raised patches of skin on the forehead (called forehead plaques)
• Areas of thickened leathery skin particularly on the lower back (called shagreen patch)
• Small growths around the fingernails and toenails (called ungual fibromas).

Different types of treatment are available that can remove or minimise the appearance of skin sign. If you or your child are worried about your/their appearance ask your doctor to refer you to a dermatologist. If you live in the UK your doctor can also refer you to the local Red Cross Camouflage Service who can advise and supply special camouflague cream.

Kidneys

About 70-80% of people with TSC develop growths in their kidneys; angiomyolipomas (called AMLs for short) or cysts. They usually don’t cause any problems or symptoms. AMLs may grow very slowly during childhood but if they continue to grow there is a risk of bleeding. If symptoms do occur it is likely to be in the teenage or early adult years. Once kidney growths have been found in someones kidneys, their doctor will do regular checks (scans, blood tests, urine tests) to see if any treatment is needed. Very occasionally (5 % of people with TSC), a baby presents with polycystic kidneys which are picked up antenatally or shortly after birth, and further investigation leads to a diagnosis of TSC.

Lungs

Very rarely will some women with TSC (1-2 %) have symptoms of a cystic lung disease called Lymphangioleiomyomatosis (or LAM for short). However recent studies have shown that many women with TSC have growths in their lungs that do not cause any problems or symtoms.

Other parts of the body

TSC growths may be present in many other organs of the body where they usually don’t cause problems. For example there may be growths in the liver, spleen, pancreas, gastrointestinal system and the bones. Growths in the eyes are also comon and there can be small growths on the gums and dental pits that cause small holes in teeth enamel.

Page created by TSA staff and reviewed by Dr Chris Kingswood FRCP, Royal Sussex County Hospital, May 2008