Aicardi Syndrome

Overview

What is Aicardi syndrome?

Aicardi syndrome is a rare disorder that’s present at birth (congenital). It causes malformations in the brain, eyes and other parts of the body. It leads to lifelong difficulties, including intellectual disabilities and developmental delay.

How rare is it?

Aicardi syndrome occurs in 1 out of every 100,000 live births. There are approximately 1,000 cases in the US and roughly 4,000 worldwide.

How does Aicardi syndrome affect the body?

The condition has three common issues:

  • Agenesis of the corpus callosum: Abnormalities in the structure connecting the brain’s left and right sides.
  • Eye issues: Holes in the back of the eye (coloboma) or patches of clear tissue (choroidal lacunae).
  • Seizures: Difficult-to-treat episodes of irregular electrical activity in the brain.

It’s possible to have Aicardi syndrome and not have all three issues. Many children experience additional symptoms and delays.

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

Digestive problems

Diagnosis and Tests

How is Aicardi syndrome diagnosed?

Fetal MRI and prenatal ultrasound may show signs of brain abnormalities before a child is born.

Tests that confirm the diagnosis after a child is born include:

  • MRI of the brain to check for abnormalities in the corpus callosum or other brain structures.
  • EEG to assess brainwaves and confirm an epilepsy diagnosis, including which type.
  • Eye exam from a pediatric ophthalmologist to check for coloboma and choroidal lacunae.

Management and Treatment

What therapies might my child need?

Seizure treatments are an essential part of therapy. Your child’s seizures may occur several times a day and be difficult to treat. Care may include:

  • Medications to control seizure activity. It may take more than one medication to achieve good results.
  • Ketogenic diet, a high-fat, low carbohydrate eating plan that requires careful monitoring.
  • Implantable devices, such as a vagus nerve stimulator, help regulate brain activity. This may be an option if medications are not successful.

What other specialists might my child need care from?

They may need services from a team of healthcare providers that includes:

  • Epileptologists for seizure treatment.
  • Gastroenterologists for digestive issues.
  • Neuropsychologists to assess intellectual delays and recommend appropriate therapies.
  • Occupational therapists to help your child maximize their abilities.
  • Ophthalmologists who diagnose and treat eye issues.
  • Orthopedists to treat muscle and skeletal issues, like scoliosis.
  • Physical therapists who address movement issues.
  • Speech therapists who optimize your child’s ability to communicate.

Prevention

Is there anything I could have done to prevent my child from having Aicardi syndrome?

No. The mutation responsible for Aicardi syndrome is spontaneous. It occurs for no known reason.

If I have a child with Aicardi syndrome and wish to have more children, is it possible they’ll also have it?

The condition does not run in families, so it’s doubtful future children would have it.

Outlook / Prognosis

What is the prognosis for children with Aicardi syndrome?

Your child’s future well-being depends on their symptoms and how severe they are. Two of the biggest concerns are:

  • Seizure activity: Children grow out of infantile spasms. But they may develop other types of seizures, including generalized tonic-clonic seizures. There can also be complications like sudden death in epilepsy (SUDEP).
  • Respiratory illness: Muscle weakness in the lungs and diaphragm can cause life-threatening infections.

Will my child make it to adulthood?

In many cases, yes. Children often survive into their 30s. Those who do not experience severe respiratory issues have a good chance of survival. And as children get older, their likelihood of survival increases.

Living With

What will life be like for my child

Ongoing medical issues along with disabilities mean life with Aicardi syndrome will be different.

Many children can:

  • Feed themselves.
  • Sit independently.
  • Speak short sentences.
  • Use alternative methods for communicating, like hand gestures.
  • Walk.

Your child will likely also:

  • Need ongoing medical care, therapies and supportive services.
  • Have low vision and may be legally blind.
  • Require lifelong assistance because they cannot live independently.
  • Experience developmental setbacks with changes in seizure activity.

A note from Cleveland Clinic
Aicardi syndrome is a rare congenital disorder that affects children in many ways. Treatments to control seizure activity and prevent respiratory infections give your child the best chances for survival. Supportive therapies can maximize their abilities and independence. Your child will need lifelong medical care and support. With continual care, they can have a good quality of life.

Resources

Last reviewed by a Cleveland Clinic medical professional on 10/21/2021.

References

  • National Institutes of Health
  • The National Institute of Neurological Disorders and Stroke

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