Tuberous sclerosis: signs and symptoms

The genetic changes that cause Tuberous Sclerosis can lead to signs of TSC in many different organs of the body.

This section proviudes in-depth information about the different signs and symptoms of TSC. This information should not be used as a substitute for medical advice. Readers are warned not to take any action without first seeking medical advice.

  • Skin
  • Brain
  • Epilepsy
  • Behavioural, intellectual, learning and psychiatric challenges
  • Kidneys
  • Heart
  • Lungs
  • Eyes

Skin

Nearly all people with Tuberous Sclerosis will have at least one of the signs of TSC on their skin. For many people these are one of the first signs of TSC. Signs of TSC on the skin are important for diagnosis of TSC as they comprise many of the minor and major features in the diagnostic criteria (link).

Although the signs of TSC on the skin are benign (non-cancerous) they can be a major concern for individuals with TSC and impact on self-esteem and social interactions.

A term used by health professionals for things to do with the skin is ‘dermatology’ and skin doctors are called dermatologists. Some treatments for the TSC skin signs can also be performed by a cosmetic surgeon.

Some TSC skin signs appear at birth, others develop later in childhood or even adulthood. Currently there is no way to predict how many TSC skin signs will develop during childhood, but they tend to remain stable during adulthood.

The skin signs of TSC are highly variable from one individual with TSC to the next, even within the same family. Some people have TSC skin signs that are hardly noticeable. Others may have larger TSC skin signs that cause pain or bleed easily.

The different signs of TSC on the skin are:

  • Hypomelanotic macules (White spots)
  • Facial Angiofibromas
  • Fibrous Plaques
  • Shagreen Patch
  • Nail Lesions
  • Other skin signs

Brain

Almost all people with TSC have some signs of TSC in their brain. These signs may cause only mild symptoms in some people and severe symptoms in others.

A term used by health professionals for things to do with the brain is neurology. Doctors who specialize in the brain are called neurologists. Epileptologists are a special kind of neurologist who specialises in treating Epilepsy. A neurosurgeon may be involved to determine if brain surgery is a possible treatment for an individual with TSC.

TSC can cause the following changes in the brain:

  • Cortical and subcortical tubers
  • Subpendymal nodules (SENs)
  • Subpendymal giant cell astrocytomas (SEGAs)

Although these changes can be called tumours, they are not cancerous.

The following topics are covered separately:

  • Epilepsy
  • Behavioural, intellectual, learning and psychiatric challenges
  • Cortical and subcortical tubers
  • Subpendymal nodules (SENs)
  • Subpendymal giant cell astrocytomas (SEGAs)

Epilepsy

Epilepsy is a neurological condition that makes people susceptible to seizures. A seizure is a change in sensation, awareness or behaviour brought about by a brief electrical disturbance in the brain. Seizures are sometimes also called convulsions or fits. Another word for epilepsy is a seizure disorder.

Approximately 75% – 90% of individuals with TSC will have Epilepsy at some point in their life. Epilepsy can start at any age but many babies with TSC have a seizure during the first year of life.

A term used by health professionals for things to do with the brain is neurology. Doctors who specialize in the brain are called neurologists. Epileptologists are a special kind of neurologist who specialises in treating Epilepsy. An epilepsy nurse may also assist with epilepsy treatment and education

A neurosurgeon may be involved to determine if brain surgery is a possible treatment for an individual with TSC.

Epilepsy occurs in TSC is because the areas of abnormal brain development contain abnormal nerve cells. These nerve cells have abnormal bursts of electrical activity which cause the seizures.

Researchers are not sure which changes in the brain lead to seizures and why. The number and size of cortical tubers is thought to play a big part. The exact gene change that has caused TSC in the individual may also play a part. Because this is unknown, it is not possible to predict whether an individual with TSC will have seizures, what type they will be and how they should be treated.

Types of seizures may also change throughout the life of someone with TSC and epilepsy.

The different changes that occur in the brain due to TSC are covered on a separate page. Impacts of TSC and epilepsy on learning, behaviour and mental health is covered on a separate page.

  • Focal, partial, generalised – what is the difference?
  • Infantile spasms
  • Other types of seizures
  • Epilepsy syndromes
  • The link between seizures and developmental delay
  • Status epilepticus

Behavioural, Intellectual, Learning and Psychiatric challenges

The impacts of TSC on behavior, learning and mental health are often the most difficult symptoms of TSC for families to cope with. It is important that families, carers, educators and health professionals are aware of these challenges; look for them in the TSC affected person at regular intervals; and implement appropriate strategies to deal with them.

The aim of understanding the different areas where a person with TSC may have difficulties is to identify the areas of strength and weakness in each individual. This is done through regular assessment and testing. After these strengths and weaknesses are identified the team of professionals can work with the family to work out what additional help may be needed to help the individual achieve their potential.

  • Behavioural difficulties
  • Developmental delay
  • Autism Spectrum Disorders
  • Attention Deficit Hyperactivity Disorder (ADHD)
  • Mood and Anxiety Disorders
  • Other Psychiatric Disorders
  • Sleep difficulties
  • Intellectual ability, learning and academic skills
  • What causes these symptoms of TSC?
  • Kidneys

    Most people with TSC will develop some signs of TSC in their kidneys during their lifetime. However, with proper surveillance and care, most people with TSC will not have major problems with their kidneys.

    Doctors who specialize in kidneys are called nephrologists. Another term used by health professionals for things to do with the kidneys is ‘renal’ and kidney doctors are also called renal physicians. Surgeons who operate on kidneys are called urologists.

    Kidneys can be affected by TSC in a number of ways:

    • Kidney Cysts and Polycystic Kidney Disease
    • Angiomyolipomas (AMLs)
    • Kidney Cancer
    • Impaired kidney function

    Heart

    At birth or in infancy, approximately 50% of individuals with TSC have at least one tumour in their heart. These benign (non-cancerous) tumours are called a cardiac rhabdomyoma do not usually cause any symptoms. Most rhabdomyomas decrease in size or disappear within the first 1-2 years of life.

    The term used by health professionals for things to do with the heart is cardiac. Doctors who specialise in children’s hearts are called paediatric cardiologists.

    • Rhabdomyoma
    • Symptoms
    • Other

    Lungs

    Some people with TSC, especially women, may have signs of TSC in their lungs. The most common sign is lymphangioleiomyomatosis (LAM). Most of these people will not have any symptoms but it is still recommended for all women to have a scan of their chest to look for signs of TSC in their lungs.

    Terms used by health professionals for things to do with the lungs are respiratory and pulmonary. Doctors who specialize in lungs and lung disease can be called respiratory physicians.

    Signs of TSC in the lungs are much more commonly found in women, usually only in adulthood. There have only been a small number of cases of TSC affecting the lungs in men.

    The lungs can be affected by TSC in two different ways:

    • Lymphangioleiomyomatosis (LAM)
    • Multifocal micronodular pneumocyte hyperplasia (MMPH)

    People with TSC can be affected with many other lung diseases, just like everyone else in the community. These include infections such as influenza and pneumonia as well as asthma.

    Eyes

    There are a variety of signs of TSC that can involve the eyes and approximately 50% of people with TSC have some signs of TSC in their eyes. Loss of vision is not common in TSC.

    Terms used by health professionals for things to do with the eyes are ophthalmic and ocular. An ophthalmologist is a medical doctor who specializes in the eyes. The retina is the part of the eye that transmits what is seen by the eye to the brain via the optic nerve.

    There are many different signs of TSC that can occur in and around the eyes. Many of these do not cause major problems but can be helpful when trying to diagnose TSC.

    Even for a doctor, it can be very difficult to tell if an abnormality in the eyes is caused by TSC or some other cause.

    • Retinal Harmatomas
    • Retinal Hypopigmented Lesions
    • Angiofibromas around the eyes
    • Vision problems caused by intellectual impairment
    • Vision problems caused by epilepsy treatment
    • Other signs
Last Reviewed: 21 January 2013
Reproduced with kind permission from the Australasian Tuberous Sclerosis Society.

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Australasian Tuberous Sclerosis Society (ATSS)

Australasian Tuberous Sclerosis Society (ATSS)

As the only organisation for Tuberous Sclerosis in Australia, Tuberous Sclerosis Australia (formerly ATSS) undertakes a wide variety of activities to benefit the individuals living with TSC and their families in Australia. These include education, support services, advocacy and research.