Features of tuberous sclerosis

Tuberous sclerosis causes non-cancerous (benign ) tumours to develop in many areas of the body. The condition can lead to a range of different problems, depending on where the tumours grow .

The areas most commonlyaffected are the:

• brain
• skin
• kidneys
• heart
• eyes
• lungs

Problems caused by these tumours can develop at any age, but most often start early in childhood. Theseverity of these problems can vary significantly and some tumours cause no noticeable problems.

The main problems these tumours can cause are described below.

Problems affecting the brain

Tumours that develop in the brain can potentially cause a range of problems.

Epilepsyand spasms

Most people with tuberous sclerosis will have Epilepsy and experience repeated seizures (fits).

Some young children experience a more serious condition, known as infantile spasms, where they have lots of seizures over a short space of time, and brain activity is abnormal all the time. These usually develop during the first year of life.

Infantile spasms tend to disappear as a child gets older, but by then they may have led to some degree of permanent brain damage, which can cause problems such as moderate to severe intellectual disability, epilepsy that doesnt respond to medication, and autism.

It's important for infantile spasms to be identified as early as possible, as early treatment markedly reduces the risk of brain damage.

Learning disabilities

Nearly half of all children with tuberous sclerosis will have a learning disability, whichcan range from mild to severe.

Possibleproblems include:

• poor memory
• poor attention span
• difficulty making plans or organising activities
• learning much more slowly than other people
• in severe cases, being unable to communicate or look after themselves

This is known as hydrocephalus . Symptoms can include:

• headaches
• neck pain
• feeling and being sick
• increasing drowsiness
• changes in your mental state, such as confusion
• blurred vision, double vision or loss of vision
• difficulty walking
• a sudden change in bladder or bowel control, such as urinary incontinence
• worsening epilepsy or challenging behaviour

Brain tumours can bedetected through regular brain scans and treatedbefore they go on to cause hydrocephalus.

Ifhydrocephalus does develop, emergency surgery is required to drain away excess fluid from the brain. If left untreated, it can cause brain damage or, in the most serious cases, death.

Skin problems

Most people with tuberous sclerosis will have abnormal growths or patches on their skin. They usuallyfirst developduring early childhood and can include:

• patches of light-coloured skin
• red acne-like spots and blemishes on the face
• areas of thickened skin
• growths of skin under or around the nails

Kidney problems

Mostpeople with tuberous sclerosis will have multiple growths in their kidneys, including tumours andcysts (small fluid-filled sacs).

These don't alwayscause problems, but can lead to:

• internal bleedingthis can cause bloodin the urine and/or sudden severe pain in the tummy
• high blood pressure (hypertension)
• kidney failure (whereyour kidneys stop working properly), which can cause symptoms suchasweight loss, swollen ankles, feet or hands, shortness of breath , an increased need to urinate, and itchy skin

About4 in every 100 people with kidney growths caused by tuberous sclerosis go on to develop kidney cancer .

Heart tumours

Many children born with tuberous sclerosis will develop one or more tumours inside their heart.

These tumours are usually very small and don't cause any symptoms. Most heart tumours will shrinkas a child gets older.

However, in a small number of cases, the tumours can cause problems such as an irregular heart beat(arrhythmia) or heart failure .

Eye tumours

Most people with tuberous sclerosis will develop one or more tumours inside their eyes. These tumours 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, these tumoursrarely grow large enough to affect a person's vision.

Lung tumours

At least one in every three women with tuberous sclerosis will develop tumours and cysts inside their lungs, usually between the ages of 20 and 40. It's unclear why women are commonly affected and men rarely are.

In many cases, these cysts and tumours do not cause a problem.

However, some womenexperience breathing difficulties similar to chronic obstructive pulmonary disease (COPD) and occasionally the tumours can rupture, causing a serious problem where air leaks out of the lungs and into thesurrounding area.