Aicardi Syndrome: Symptoms and Causes

What causes Aicardi syndrome?

A gene mutation on the X chromosome causes the condition. Researchers have not yet identified which gene.

Who gets Aicardi syndrome?

Nearly all cases are girls. A small number of boys have it. Boys typically also have Klinefelter syndrome, which affects testosterone levels.

How will I know if my child has Aicardi syndrome?

The first sign is seizures that start early in life when a child is a few months old. They are often infantile spasms in which the entire body jerks at once. Seizures occur several times a day and may get worse over time.

What are other symptoms and complications of this disease?

Aicardi syndrome can affect many areas of the body, causing symptoms such as:

Muscle and skeletal issues

• Hypotonia, muscle weakness.
• Microcephaly, a small head.
• Missing ribs.
• Scoliosis.
• Small hands.
• Spasticity.

Eye and facial deformities

• Cleft lip and palate.
• Colobomas, incomplete retina development.
• Facial asymmetry.
• Microphthalmia, small eyes.

Intellectual and developmental delays

• Delayed or early puberty.
• Movement and coordination difficulties.
• Physical development delays.

Brain conditions

• Brain cysts.
• Hydrocephalus.
• Vascular malformations.

Digestive problems

• Acid reflux.
• Constipation.
• Feeding problems.