Aicardi syndrome

Alternate names

AIC; Corpus callosum, agenesis of, with chorioretinal abnormality

Definition

Aicardi syndrome is a rare neurological disorder. The severity of the syndrome and the associated signs and symptoms vary from person to person. The three main features of Aicardi syndrome are:

• Complete or partial absence of the nerve tissue that allows the right and left sides of the brain to communicate (corpus callosum)
• Seizures beginning in infancy (infantile spasms), that may become hard to control (refractory epilepsy)
• Defects or holes in the light sensitive tissue at the back of the eye (retina) known as chorioretinal lacunae.

Epidemiology

Aicardi syndrome is a very rare disorder. It occurs in about 1 in 105,000 to 167,000 newborns in the United States. Researchers estimate that there are approximately 4,000 affected individuals worldwide.

Cause

• The cause of Aicardi syndrome is currently unknown.
• Because the syndrome almost only affects females, it is believed to be caused by a change (mutation) in a gene located on the X-chromosome.

Inheritance

X-linked dominant inheritance

This condition is inherited in a X-linked dominant manner. However, most cases are de novo, which means the genetic change happened by mistake during the making of the egg or the sperm and there are no other cases of the syndrome in the family.

Signs and symptoms

The severity of the syndrome and the associated signs and symptoms vary from person to person. The three main features of Aicardi syndrome are:

• Complete or partial absence of the nerve tissue that allows the right and left sides of the brain to communicate (corpus callosum)
• Seizures beginning in infancy (infantile spasms), that may become hard to control (refractory epilepsy)
• Defects or holes in the light sensitive tissue at the back of the eye (retina) known as chorioretinal lacunae

Other signs and symptoms may include:

• Developmental delay
• Intellectual disability that ranges from very mild to severe
• Characteristic facial features, such as a short distance between the nose and lips, a flat nose, large ears and thin eyebrows.
• Other brain malformations such as a very small head (microcephaly)
• Other eye defects, such as very small eyes (microphthalmia) or a defect of the nerve connecting the retina to the brain (optic nerve) known as coloboma.

Diagnosis

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

• Corpus callosum that is partly or completely missing
• Female sex
• Seizures (typically beginning as infantile spasms)
• Sores on the retina (retinal lesions) or optic nerve

In rare cases, one of these features may be missing (especially lack of development of the corpus callosum).

Tests to diagnose Aicardi syndrome include:

• CT scan of the head
• EEG
• Eye exam
• MRI

Other procedures and tests may be done, depending on the person.

Treatment

• Treatment is done to help prevent symptoms. It involves managing seizures and any other health concerns.
• Treatment uses programs to help the family and child cope with delays in development.
• While there is no known cure for Aicardi syndrome, there are treatments that can help control symptoms.
• Seizures may be treated with ketogenic diet and different types of anti-seizure medications.
• If medication does not control the seizures, a vagal nerve stimulator may be used or, in more severe cases, surgery may be considered.
• Other treatment may include physical therapy, speech therapy, and occupational therapy, as well as support for skeletal and muscle problems to prevent scoliosis related complication.

Prognosis

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.

NIH genetic and rare disease info

• NIH info on Aicardi syndrome

Aicardi syndrome is a rare disease.

Aicardi syndrome Resources
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