Symptoms of tuberous sclerosis
The non-cancerous (benign) tumours caused by tuberous sclerosis can develop almost anywhere in the body.
However, the areas most commonly affected include the:
Read more information about epilepsy.
Infantile spasms occur when the baby has multiple seizures in a short space of time. Each seizure often lasts only for a few seconds. A baby usually has a ‘run’ or ‘cluster’ of around 20 seizures, although some babies can have up to 100 seizures over a short period of time.
Infantile spasms usually disappear by the time a child is three years old, but the condition often causes permanent brain damage. An estimated 7 out of 10 children who experience infantile spasms will go on to develop some degree of brain damage and impaired intelligence, such as very slow co-ordination or speech.
It is important to diagnose infantile spasms as early as possible because research has shown that early treatment can greatly improve the outlook of the condition.
Possible difficulties include:
A small number of people develop large benign brain tumours. These are known as subependymal giant cell astrocytomas (SEGAs). SEGAs can develop at any age, but they most commonly occur after the teenage years.
In about 1 in 20 people who have SEGAs, the SEGAs grow too big and risk obstructing the flow of cerebrospinal fluid through the brain. Cerebrospinal fluid surrounds and protects the brain and spine.
If the flow of cerebrospinal fluid is blocked, it can cause pressure to build up in the brain. This is known as hydrocephalus. Symptoms can include:
SEGAs can be picked up before they cause hydrocephalus through regular MRI scans. Pre-emptive treatment, such as an mTOR inhibitor or surgery, may be used to prevent problems occurring.
Read more about hydrocephalus.
Kidney tumours bigger than 3cm can rupture (split) and cause internal bleeding. This causes sudden pain and may require surgery. This is the most common kidney problem and occurs in up to 2-3 out of 10 people with tuberous sclerosis.
If the kidney tumours become too large, they can interfere with eating or occasionally with the workings of the kidneys. This can cause symptoms similar to kidney disease, such as:
Polycystic kidneys can cause symptoms of high blood pressure (hypertension) and kidney disease. Polycystic kidneys are also the most common cause of kidney failure in people with tuberous sclerosis, which occurs in 1 in 20 people.
Read more about autosomal dominant polycystic kidney disease.
About 2 or 3 out of 10 children with tuberous sclerosis can also develop multiple simple cysts in their kidneys, but these kidney cysts usually cause no symptoms.
Read more about kidney cancer.
However, in a small number of children, the tumours can block the flow of blood inside the heart, or cause it to beat irregularly (arrhythmia).
Heart problems can also cause associated symptoms, including:
In most cases, these cysts and tumours do not cause a problem. Around half of all women with tuberous sclerosis may have lung tumours that show up when their lungs are scanned, but do not cause any symptoms.
However, around 1 in 20 women experience symptoms from their lung tumours. The tumours can cause shortness of breath and can feel like asthma. In some cases, one or more of the tumours can rupture, resulting in a collapsed lung. A collapsed lung can be life-threatening. It occurs when air leaks out from inside the lung. In the most serious cases, women with tuberous sclerosis and lung tumours can develop progressive lung failure.
However, the areas most commonly affected include the:
- brain – occurring in an estimated 9 out of 10 cases
- skin – occurring in an estimated 9 out of 10 cases
- kidneys – occurring in an estimated 8 out of 10 cases
- heart – occurring in an estimated 7 out of 10 cases
- eyes – occurring in an estimated 8 out of 10 cases
- lungs – occurring in an estimated 4 out of 10 cases in women
Neurological conditions and complications
Tumours that develop in the brain can affect its ability to function normally, and cause a range of neurological conditions and complications. 'Neurological' is a term that is used to describe the nervous system, which includes the brain.Epilepsy
Epilepsy is the most common neurological symptom of tuberous sclerosis, affecting up to 9 out of 10 people with the condition. Epilepsy is a condition that causes repeated seizures (fits) and a temporary loss of consciousness.Read more information about epilepsy.
Infantile spasms
Around a third of children will develop a more severe form of epilepsy known as infantile spasms. They usually develop during the first three months of life.Infantile spasms occur when the baby has multiple seizures in a short space of time. Each seizure often lasts only for a few seconds. A baby usually has a ‘run’ or ‘cluster’ of around 20 seizures, although some babies can have up to 100 seizures over a short period of time.
Infantile spasms usually disappear by the time a child is three years old, but the condition often causes permanent brain damage. An estimated 7 out of 10 children who experience infantile spasms will go on to develop some degree of brain damage and impaired intelligence, such as very slow co-ordination or speech.
It is important to diagnose infantile spasms as early as possible because research has shown that early treatment can greatly improve the outlook of the condition.
Learning disabilities
Nearly half of all children with tuberous sclerosis will have a learning disability. In some cases, the learning disability could be quite mild. In other cases, it could be severe and result in profound disability.Possible difficulties include:
- having a poor memory
- having a low attention span
- finding it difficult to make plans or organise activities
- learning much more slowly than other people
Behavioural and developmental disorders
Around half of all children with tuberous sclerosis may also have behavioural or developmental disorders due to the way the condition affects their brain. These include:- autistic spectrum disorders – a range of related developmental disorders, which can cause problems with language, social interaction and behaviour
- hyperactivity
- impulsive behaviour
- aggression
- anxiety
- extreme shyness
- depression
- schizophrenia – a condition that causes hallucinations and delusions (seeing or believing things that are not real or untrue)
- sleep disorders, such as finding it difficult to get to sleep or frequently waking up during the night are common and often difficult to control; they can also be caused by epileptic seizures at night and may last for many years
Subependymal giant cell astrocytomas (SEGAs)
A small number of children with tuberous sclerosis will develop multiple types of brain tumours during brain development, up until five years old. These tumours then remain stable but are thought to cause the other brain problems described above.A small number of people develop large benign brain tumours. These are known as subependymal giant cell astrocytomas (SEGAs). SEGAs can develop at any age, but they most commonly occur after the teenage years.
In about 1 in 20 people who have SEGAs, the SEGAs grow too big and risk obstructing the flow of cerebrospinal fluid through the brain. Cerebrospinal fluid surrounds and protects the brain and spine.
If the flow of cerebrospinal fluid is blocked, it can cause pressure to build up in the brain. This is known as hydrocephalus. Symptoms can include:
- headache
- nausea and vomiting
- lack of appetite
- increased irritability, lethargy or drowsiness
- personality changes
- disorientation
- visual problems, such as double vision or blurred vision
- fits and seizures
- a sudden change in bladder or bowel control, such as urinary incontinence
SEGAs can be picked up before they cause hydrocephalus through regular MRI scans. Pre-emptive treatment, such as an mTOR inhibitor or surgery, may be used to prevent problems occurring.
Read more about hydrocephalus.
Skin lesions
Around 9 out of 10 of people with tuberous sclerosis will develop skin lesions. They usually occur during early childhood and can take the form of:- patches of light-coloured skin
- areas of thickened skin
- growths of skin under or around the nail
Kidney tumours
Up to 8 out of 10 children with tuberous sclerosis will develop multiple benign tumours inside their kidneys, usually by five years of age. The kidney tumours are called angiomyolipomas (AMLs) and are made up of blood vessels, muscle and fat.Kidney tumours bigger than 3cm can rupture (split) and cause internal bleeding. This causes sudden pain and may require surgery. This is the most common kidney problem and occurs in up to 2-3 out of 10 people with tuberous sclerosis.
If the kidney tumours become too large, they can interfere with eating or occasionally with the workings of the kidneys. This can cause symptoms similar to kidney disease, such as:
- tiredness
- swollen ankles, feet or hands (due to water retention)
- shortness of breath
- blood in the urine
- protein in the urine
- an increased need to urinate (particularly at night)
- itchy skin
- feeling sick
Polycystic kidneys
Some people with tuberous sclerosis are also born with polycystic kidneys. This is when multiple cysts (small fluid-filled sacs) develop in the kidneys.Polycystic kidneys can cause symptoms of high blood pressure (hypertension) and kidney disease. Polycystic kidneys are also the most common cause of kidney failure in people with tuberous sclerosis, which occurs in 1 in 20 people.
Read more about autosomal dominant polycystic kidney disease.
About 2 or 3 out of 10 children with tuberous sclerosis can also develop multiple simple cysts in their kidneys, but these kidney cysts usually cause no symptoms.
Kidney cancer
Less than 3 in 100 people with tuberous sclerosis will develop a type of kidney cancer called renal cell carcinoma.Read more about kidney cancer.
Heart tumours
Up to two thirds of infants born with tuberous sclerosis will develop one or more tumours inside their heart. These tumours are usually very small and do not cause any symptoms. Unlike the other types of tumour caused by tuberous sclerosis, heart tumours will usually shrink and become much more difficult to detect as a child gets older.However, in a small number of children, the tumours can block the flow of blood inside the heart, or cause it to beat irregularly (arrhythmia).
Heart problems can also cause associated symptoms, including:
- palpitations (an irregular heartbeat or the sensation of skipped or extra heartbeats)
- dizziness
- fainting
- breathlessness
- chest pains
Eye tumours
An estimated three quarters of people with tuberous sclerosis will develop one or more tumours inside their eyes. The tumour(s) grow on the surface of the retina, which is the thin layer of nerve cells that line the inside of the back of the eye. However, they rarely grow large enough to affect a person’s vision.Lung tumours
An estimated 40-60% of women with tuberous sclerosis will develop tumours and cysts inside their lungs. This is a condition called lymphangioleiomyomatosis (LAM). The condition usually develops at around 20 to 40 years of age. It is unclear why women are particularly vulnerable to lung tumours while men are rarely affected.In most cases, these cysts and tumours do not cause a problem. Around half of all women with tuberous sclerosis may have lung tumours that show up when their lungs are scanned, but do not cause any symptoms.
However, around 1 in 20 women experience symptoms from their lung tumours. The tumours can cause shortness of breath and can feel like asthma. In some cases, one or more of the tumours can rupture, resulting in a collapsed lung. A collapsed lung can be life-threatening. It occurs when air leaks out from inside the lung. In the most serious cases, women with tuberous sclerosis and lung tumours can develop progressive lung failure.
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