Aicardi syndrome

Almost all reported cases of Aicardi syndrome have been in females.

The cause of Aicardi syndrome is unknown at this time.

Children are most commonly identified with Aicardi syndrome before the age of five months.

All cases of Aicardi syndrome are thought to be due to new mutations.

The age range of the individuals reported with Aicardi syndrome is from birth to the mid 40s.

Children are diagnosed with Aicardi syndrome if they meet the following criteria:

Call your health care provider if your child has symptoms of Aicardi syndrome.

Almost all people with Aicardi syndrome are females.

It is very unusual to have Aicardi syndrome without having chorioretinal lacunae.

Aicardi syndrome may occur with other brain defects.

Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children.

Infants with Aicardi syndrome usually have a type of seizures known as "infantile spasms".

Confirmation of this theory awaits the discovery of the gene which causes Aicardi syndrome.

Aicardi syndrome and Aicardi-Goutieres syndrome are named after him.

Aicardi syndrome should not be confused with Aicardi-Goutières syndrome, a distinct disorder.

Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays.

Children with Aicardi syndrome usually grow out of infantile spasms and then have generalized tonic-clonic seizures.

Tests to diagnose Aicardi syndrome include:

Individuals with Aicardi syndrome have agenesis of the corpus callosum, chorioretinal lacunae and seizures.

Worldwide prevalence of Aicardi Syndrome is estimated at several thousand, with approximately 900 cases reported in the United States.

No person with Aicardi syndrome is known to have transmitted the X-linked gene responsible for the syndrome to the next generation.

Morning glory syndrome may be associated with Aicardi syndrome, a condition found exclusively in girls (lethal in males).

Some X-linked dominant conditions such as Aicardi Syndrome are fatal to boys, therefore only girls with these conditions survive.

Additional complications sometimes seen with Aicardi syndrome include porencephalic cysts and hydrocephalus, and gastro-intestinal problems.

In addition, although these conditions do not alter fertility per se, individuals with Rett syndrome or Aicardi syndrome rarely reproduce.