Aicardi Syndrome is a very rare form of epilepsy that almost always occurs in females. It’s even more rare for Aicardi Syndrome to affect males as it’s believed the syndrome causes unborn males to be miscarried. This particular syndrome can cause a variety of complications, particularly with the brain and eyes that leads to a number of problems and disabilities. It can also affect a child’s development and causes seizures from a young age.
Aicardi Syndrome is not genetic and therefore does not run in families, it’s a spontaneous mutation of the X chromosome that occurs during conception.
One of the defining characteristics of Aicardi Syndrome is that it often causes structural brain abnormalities. This usually results in a partially or completely absent corpus callosum, which is the structure that links the two hemispheres of the brain. Some babies are born with brain cysts or other abnormalities which can be detected with an MRI scan. It’s these brain abnormalities that mean children with Aicardi Syndrome will often have moderate to severe learning disabilities and likely need care throughout their entire life.
Aicardi Syndrome often affects the eyes and results in abnormalities, such as a choroidal lacunae, which can be spotted on the retina at the back of the eye using a specialist piece of equipment called an ophthalmoscope. A choroidal lacunae will usually display as a clear, round footprint or yellow/white lesions within the eye. This typically means that children with Aicardi Syndrome will experience difficulties with their vision.
There are a variety of other complication that can arise as a result of Aicardi Syndrome, including:
The symptoms for Aicardi syndrome include:
Finding the right treatment for Aicardi Syndrome can be difficult as the seizures are often resistant to medication. Some medications that may prove effective include:
A ketogenic diet, a specialised diet that is often used as part of an epilepsy treatment plan, can be very helpful. It requires expert supervision to ensure the person receives adequate nutrition from a strict list of foods. Read out blog post on the ketogenic diet here for more information.
It’s important that a person with Aicardi Syndrome has an emergency care plan for rescue medication as they can often experience prolonged or repeated seizures.
We’re experienced in providing help for people who suffer from Aicardi Syndrome and can help to devise a care plan that takes the person’s needs and requirements into place. Find out how we can help, call us on 01706 373075 or email email@example.com.