When is Aicardi syndrome diagnosed?

Aicardi syndrome symptoms usually appear in babies between the ages of 2 and 5 months old. Your child may begin jerking or having infantile spasms, a type of seizure that occurs in infants. These seizures can develop into epilepsy later in life. Your child may also develop yellowish spots on their eyes.

How long do children with Aicardi syndrome live?

The life span of girls with Aicardi syndrome usually averages between 8 and 18 years, but several women with milder symptoms have lived into their 30’s and 40’s. Very severe cases may not live beyond infancy.

Are there any treatments for Aicardi?

There is no cure for Aicardi syndrome nor is there a standard course of treatment. Treatment generally involves medical management of seizures and programs to help parents and children cope with developmental delays.

How rare is Aicardi syndrome?

Aicardi syndrome usually affects only females. In very rare cases, males with Klinefelter syndrome (47,XXY) may have Aicardi syndrome. It has been estimated that there are between 300 and 500 cases of Aicardi syndrome worldwide.

Is Aicardi-Goutieres syndrome terminal?

Aicardi-Goutieres Syndrome is generally either fatal, or else it results in a persistent vegetative state in early childhood. Generally, the first symptoms observed are vomiting, feeding difficulties, and lack of progress in motor and social skills.

What happens when corpus callosum is damaged?

Lesions of any part of the corpus callosum might lead to loss of contact between bilateral hemispheres that cause mental disorders, pseudobulbar palsy, speech and movement ataxia.

How are doctors able to diagnose Aicardi syndrome?

Doctors can usually diagnose Aicardi syndrome based on the symptoms. However, since each child may present different symptoms, additional tests may be needed. Some tests that are used to help doctors make a diagnosis include: an electroencephalogram (EEG), which evaluates the electrical activity of the brain and detects seizure activity

What causes Aicardi syndrome?

The exact cause of Aicardi syndrome isn’t known. However, it’s thought to be caused by a first-time mutation in the child’s genes. Since the disorder primarily affects females, researchers believe the mutation specifically occurs on the X chromosome, which is one of the two sex chromosomes.

Which is part of the brain does Aicardi syndrome affect?

Aicardi syndrome is a rare genetic disorder that interferes with the formation of the corpus callosum, which is the structure that connects the two sides of the brain.

What kind of disease is Aicardi Goutieres syndrome?

Aicardi-Goutières syndrome (AGS) is a rare genetic disorder that affects the brain, spinal cord and immune system.