Aicardi syndrome

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at October 18, 2016
StartDiseasesAicardi syndrome

Aicardi syndrome is an extremely rare type of callosal disorder which is a group of disorders in which the corpus callosum does not form normally or at all. It is characterized by severe intellectual disability. Aicardi syndrome is a genetic disorder that arises via spontaneous mutations and does not run in families. It is an X-linked dominant disorder and mostly affects females. It is believed to affect 4,000 people globally.

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Definition & Facts

Those with Aicardi syndrome have either agenesis of the corpus callosum in which the corpus callosum does not form at all or the corpus callosum has formed incompletely. Those with this condition also have chorioretinal lacunae which are abnormalities of the eye, and they suffer from seizures.

The corpus callosum is a bundle of nerve fibers beneath the brain that connects the left and right side of the brain. It plays an important role in allowing the two sides of the brain to work together to perform certain body functions, such as coordinated movements of the eyes and being able to pay attention or stay focused. The corpus callosum also detects stimulus, such as when pressure, cold, or touch, is applied to the body.

Symptoms & Complaints

There are a number of symptoms associated with Aicardi syndrome, and the symptoms are typically noticed at an extremely young age, often between two and three months of age. The symptoms include:

Causes

Researchers are unsure of exactly what causes Aicardi syndrome, but they believe that there is some sort of defect within the X chromosome that causes the disorder. This syndrome is almost always seen in females and not typically in males.

Although researchers know that Aicardi syndrome is caused by a process called skewed X-inactivation, they do not know what gene causes it, so the actual cause is still unknown. Nearly all of those with Aicardi syndrome do not have a history of the syndrome in the family.

Diagnosis & Tests

Aicardi syndrome is typically diagnosed by a doctor, just by looking at the patient's symptoms. But because the symptoms that each child has can be different from others, additional testing is often done in order to ensure proper diagnosis. Some of the tests that doctors may use in order to make the diagnosis include:

  • Eye examination- Eye exams will be completed in order to look for a yellow spot, gap, or hole that is a symptom of Aicardi syndrome.
  • An electroencephalogram or EEG- This test will evaluate electrical activity within the brain in order to detect seizure activity.
  • A computed tomography (CT) scan or magnetic resonance imaging (MRI) scan. These tests will be used in order to provide an image of the brain and head. This will show whether there are any abnormalities in the corpus callosum or if it is missing entirely.

Treatment & Therapy

There is currently no way to cure Aicardi syndrome, but treatment will address symptoms such as seizures or involuntary spasms. Anticonvulsant medications can be prescribed to treat seizures such as lamotrigine and topiramate. A ketogenic diet may also be recommended to reduce seizures. Vagus nerve stimulation may also be used to prevent seizures.

Part of having a child with Aicardi syndrome is learning to cope and help, in any way, with the developmental delays or learning disabilities the child may have. In order to help both the parents and the child with this, the doctor may suggest programs that have been designed to teach the child and parents how to cope with the symptoms of the syndrome. 

The doctor may also refer the child to a pediatric neurologist for additional evaluation of the child. A pediatric neurologist specializes in treating children with nervous system disorders. They will be able to help the child with creating a long-term plan to help manage Aicardi syndrome.

Depending on the type of symptoms the child has, as well as the severity of the symptoms, there are doctors in a number of other fields that the child may be referred to including:

Prevention & Prophylaxis

There is currently no known way to prevent Aicardi syndrome. Since researchers are not able to pinpoint the exact cause of the syndrome, they can not be sure of whether or not there is a way to prevent it.