This information is for people affected by or concerned about Aicardi syndrome.
On this page we talk about how Aicardi syndrome is diagnosed, what causes it, symptoms, treatment options and long-term outlook.
Use this page as a general guide and speak to a health professional for more information and support.
On this page
What is Aicardi syndrome?
Aicardi syndrome is an extremely rare genetic condition which affects the brain and causes seizures. It usually affects only girls.
It is hard to know for sure how many people actually have Aicardi syndrome, as the research and records for it are not very good. However, Aicardi syndrome is thought to affect only about 300 to 500 people worldwide.
Girls affected by Aicardi syndrome will usually be missing, entirely or partly, a structure in their brain called the corpus callosum. This part of the brain contains the fibres that connect the two hemispheres (halves) of the brain together.
What causes Aicardi syndrome?
Aicardi syndrome is likely to be caused by a new change (variant or mutation) in a gene located on the X chromosome (the female gene). This usually happens at the point of conception, in the very early stages of pregnancy. The exact gene that causes Aicardi syndrome is not known.
Although Aicardi syndrome is a genetic condition, it is not thought to be passed down through families (inherited). However, the research on this is not very clear and more research needs to be done to fully understand the causes and whether Aicardi syndrome can be passed from a parent to a child.
What are the signs and symptoms of Aicardi syndrome?
The main symptom linked to Aicardi syndrome is infantile spasms. These usually start to happen within the first four months of life. Over time, seizures may become more frequent and harder to control.
Some children may go on to have focal onset seizures, which come from one lobe (part) of the brain. What happens during a focal onset seizure depends on which part of the brain is affected.
Find out more about the different seizure types.
Other symptoms of Aicardi syndrome may include:
- Defects called ‘choroidal lacunae’ in the retina at the back of the eye – these can appear as very clear, circle-shaped, yellow-white marks
- Gaps or holes called ‘coloboma’ in the optic nerve of the eye
- Microphthalmia – when one or both eyes are a smaller than normal size
- Brain cysts or other brain abnormalities
- Microcephaly – having a smaller than normal sized head
- An asymmetric (lopsided or uneven) face
- A cleft lip
- Curvature of the back – abnormally formed bones in the spine and scoliosis
- Gastrointestinal difficulties – problems in the gut or digestive system.
How is Aicardi syndrome diagnosed?
If you think a child has epilepsy, including Aicardi syndrome, contact a doctor. Children and young people may be referred to a paediatrician (a doctor who specialises in child health). Or they may be referred to a doctor who specialises in diagnosing and treating rare types of epilepsy, such as Aicardi syndrome.
Aicardi syndrome is usually diagnosed using a combination of the following:
- The child’s medical history, including the nature of their seizures
- The results of an MRI (magnetic resonance imaging) scan – a scan that uses magnetic fields and radio waves to produce images from inside the body.
- Results of a brain scan and EEG (electroencephalogram) test – a painless test that uses small sensors attached to the scalp to pick up the electrical signals produced by the brain.
- An eye examination.
Treatment for Aicardi syndrome
Treatment for Aicardi syndrome does not always work very well. Therefore, people with this type of epilepsy may have to try a few different medicines.
Talk to a doctor about treatment options and what might be suitable. They should explain the risks and benefits of each treatment, including any possible side effects.
The anti-seizure medications commonly used to treat the seizures are:
- Vigabatrin (also known as Sabril) – a medication that comes as granules in a sachet, that you mix with water and drink
- Sodium valproate (also known as Epilim) – a medicine that comes as capsules, tablets or a liquid that you swallow. It also comes as granules that you mix with food or drink. It can also be given by injection, but this is usually only done in hospital or in emergencies. However, sodium valproate may not be suitable for everyone. Read more about the process for prescribing sodium valproate below.
Your child’s doctor may also suggest trying steroids. Their doctor will talk to you about steroids, how to take them, and any possible side effects.
Seizures are often hard to control (resistant) with medication, so other treatments such as the ketogenic diet can be tried under the supervision of a ketogenic diet team. This is a special type of diet that is high in fat and protein, but low in carbohydrates. It can work well at reducing the intensity and frequency of seizures.
Sodium valproate
In January 2024, new rules were introduced for prescribing sodium valproate.
Two specialists are now needed to approve:
- New or ongoing valproate treatments for girls and women.
- New valproate treatments for boys and men
The specialists must agree that your epilepsy does not respond to other treatments and the benefits of treatment outweigh the risks.
For girls and women, valproate can seriously harm an unborn baby when taken during pregnancy.
For boys and men, valproate may cause infertility. Some people’s fertility may return when their treatment is stopped or reduced. There is also some evidence that valproate can cause harm in the testicles of animals, but it’s unclear what this means for humans.
Never stop taking valproate before talking to your specialist first. Not taking medication as prescribed can increase the risk of a seizure.
Your epilepsy specialist will let you know when your treatment is due to be reviewed.
If you are planning a pregnancy it is important to speak to your healthcare professional as soon as possible about your treatment options.
If you have any questions or concerns about valproate, please speak to your healthcare professional.
Find out more about sodium valproate in the MHRA’s patient guide.
Find out more about Anti-seizure medications, contraception and pregnancy.
What’s the long-term outlook for people with Aicardi syndrome?
The majority of girls with Aicardi syndrome will have moderate to severe learning difficulties. Because of this, they will need long-term support from others throughout their life.
People with Aicardi syndrome may also need long-term support with the following things:
- Communicating with others
- Their mobility
- Their vision – some girls may have normal vision, while others may be blind or partially blind.
When someone is first diagnosed with Aicardi syndrome, they should be referred for long-term support from a range of different health professionals. These may include:
- Physiotherapist – a specialist who helps to restore movement and function in people who have been affected by injury, illness or disability.
- Occupational therapist – a health professional who improves a person’s ability to do everyday tasks, for example by providing equipment for their home.
- Speech and language therapy – a health professional who helps people communicate.
Living with Aicardi syndrome and getting support
Having a child with any form of epilepsy can be challenging and upsetting. But if the type of epilepsy that they have is very rare, it can be even harder to manage and come to terms with. Talk to the child’s doctor for help on how to support them well. And talk to your own doctor if you need support for yourself. If you’re caring for someone with Aicardi syndrome, it’s important that you look after yourself and get the support you need.
You may find it helpful joining an in-person or online support group, where you can listen to or share experiences with other people who understand what you’re going through.
Other useful organisations
UK Rare Epilepsies Together
Patient advocacy groups representing rare and complex epilepsies
