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Aicardi syndrome

This is a very rare syndrome which nearly always happens in girls; it only very rarely affects boys. This is because 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, or ‘hemispheres’ of the brain together).

Girls with Aicardi syndrome have very typical eye abnormalities, which often help to make the diagnosis. The abnormalities seen in the retina at the back of the eye are called ‘choroidal lacunae’. They appear as very clear, round footprint or circle-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 seen with a magnetic resonance imaging (MRI) brain scan. Other features of Aicardi syndrome include cleft lip and palate, asymmetry of the face (lopsided, uneven), microcephaly (a small head), microphthalmia (one or two small eyes) and 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 not known. 

Symptoms

Seizures often happen before 3 months of age. The usual seizure type is infantile spasms. The combination of infantile spasms and an EEG pattern called ‘hypsarrhythmia’ is known as West syndrome. Less commonly, babies have other seizure types, including focal (partial) motor seizures, and focal seizures that affect their awareness. 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).

Seizures may not respond to epilepsy medicines.

Diagnosis

The diagnosis may not be made until seizures develop, and investigations such as an MRI (magnetic resonance imaging) brain scan and a special eye examination are carried out.

Treatment

The choice of epilepsy medicine is difficult, because the seizures are often resistant to treatment. Depending on the type of seizures, medicines that may be effective include vigabatrin (Sabril), sodium valproate (Epilim) and a short course of corticosteroids (called prednisolone). However, other medicines may also be useful, including clobazam (Frisium), levetiracetam (Keppra) and topiramate (Topamax).

The ketogenic diet is a treatment that might be very helpful. This is a special diet and its use will need to be supervised very carefully.

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

There may be research studies open that your child might be able to take part in. Your child’s paediatric neurologist will be able to discuss this with you.

Your child is very likely to have prolonged or repeated seizures as part of Aicardi syndrome. This may include status epilepticus. Your child’s hospital doctor (paediatrician or paediatric neurologist) will discuss a ‘rescue’ or emergency care plan with you to treat any prolonged or repeated seizures that may happen at home. This rescue or emergency care plan is important for your child.

Outlook

The majority of girls with Aicardi syndrome will have moderate or severe learning disabilities. 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.  This is particularly true for the very few boys who have this syndrome. All children with Aicardi syndrome may have problems with feeding, and may develop stiffness (spasticity) in their arms and legs. They may also have difficulties with their vision and be registered as being ‘partially-sighted’ or ‘blind’. 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
Freephone helpline (UK only): 0808 808 3555
Website: cafamily.org.uk
Email: info@cafamily.org.uk 

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.

Code: 
S002.03

Epilepsy Action would like to thank Dr Richard Appleton, consultant paediatric neurologist at Alder Hey Children’s Hospital, Liverpool, UK for preparing this information.

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

  • Updated November 2016
    To be reviewed November 2019

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