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Aicardi syndrome

What is a syndrome?

A syndrome is a group of signs and symptoms that, added together, suggest a particular medical condition. In epilepsy, examples of these signs and symptoms would be things like the age at which seizures begin, the type of seizures, whether the child is male or female and whether they have physical or learning disabilities, or both. The results of an electroencephalogram (EEG) are also used to help identify epilepsy syndromes.

Epilepsy Action has more information about seizure types, learning disabilities, and the EEG.

If you would like to know more about an epilepsy syndrome, please speak to your doctor. If you would like to know more about epilepsy in general, please contact Epilepsy Action.

Aicardi syndrome

This is a very rare syndrome which only occurs in girls. It is thought the syndrome causes a male unborn baby to be lost as a miscarriage. Affected girls have developmental delay and seizures. They also have structural brain abnormalities, including a partially or completely absent corpus callosum (the structure that links the two halves of the brain together).

Girls with Aicardi syndrome have very typical eye abnormalities, which often help to make the diagnosis. The abnormalities on the retina at the back of the eye are called choroidal lacunae. They appear as distinctive, round footprint shaped yellow-white lesions (marks). These are visible with a special piece of equipment called an ophthalmoscope.

As well as an absent corpus callosum, some babies may have brain cysts or other brain abnormalities. These can be detected with a magnetic resonance imaging (MRI) scan. Other features of Aicardi syndrome include cleft lip and palate, asymmetry of the face (lopsided, uneven), microcephaly (a small head), abnormally formed bones in the backbone and scoliosis (curvature of the back).

Aicardi syndrome does not appear to run in families. It is thought to be caused by a spontaneous mutation (random change) in the X chromosome (gene) which happens at conception. The precise genetic abnormality is still unknown. 

Symptoms

Seizures often happen before three months of age and take the form of infantile spasms (West syndrome). Less commonly, babies have other seizure types, including focal (partial) motor seizures, and focal seizures that affect their awareness. Seizures are often resistant to epilepsy medicines. The electroencephalogram (EEG) will often show the pattern found in West syndrome, which is known as hypsarrhythmia. Rarely the EEG may show abnormal discharges, or spikes and waves alternating with periods of flatness, coming independently from each side of the brain (independent burst suppression pattern).

Epilepsy Action has more information on infantile spasms (West syndrome).

Diagnosis

The diagnosis may not be made until seizures develop, and investigations such as an MRI scan and a special eye exam are carried out.

Epilepsy Action has more information about diagnosing epilepsy.

Treatment

The choice of epilepsy medicine is difficult, as seizures are often resistant to treatment. Depending on the type of seizures, medicines that may be effective include vigabatrin (Sabril), a course of corticosteroids or sodium valproate (Epilim).

Information about treatments for children can be found on the Medicines for Children website.

There may be research studies open that are relevant to this epilepsy syndrome. Your child’s doctor will be able to discuss this with you.

If your child has this syndrome they may have prolonged or repeated seizures. Your child’s doctor will discuss a ‘rescue’ or emergency care plan with you to treat any prolonged or repeated seizures.

Outlook

The majority of girls with Aicardi syndrome will have moderate or severe learning difficulties. There are reports of girls who are less severely disabled, but most girls with Aicardi syndrome will remain dependent on others for all of their life. They may have problems with feeding, and may develop stiffness (spasticity) in their arms and legs. Rarely some girls may learn to walk and develop some limited speech. They frequently have complications such as chest infections, which may shorten their life.

Support 

Contact a Family
Freephone helpline (UK only): 0808 808 3555
Website: cafamily.org.uk
Email: info@cafamily.org.uk 

Code: 
S002.02

Epilepsy Action would like to thank

  • Dr Richard Appleton, and Dr Rachel Kneen, consultant paediatric neurologists at Alder Hey Children’s Hospital, Liverpool, UK and
  •  Dr Stewart Macleod, consultant paediatric neurologist at Royal Hospital for Sick Children, Glasgow, UK.
    They have kindly prepared the information on this page. It is based on their own research, experience and expertise.

This information is exempt under the terms of The Information Standard.

  • Updated August 2013
    To be reviewed August 2016

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