Aicardi Syndrome

What is Aicardi syndrome?

Aicardi syndrome is an extremely rare genetic disorder that predominately affects females. This disorder causes the following characteristics: agenesis of the corpus callosum (abnormal development of the structure that connects the right and left half of the brain), chorioretinal lacunae (small holes in the back part of the eye), and seizures, such as infantile spasms. The prognosis of Aicardi syndrome depends on the intensity of the symptoms of the disease, but nearly all patients are left with some kind of intellectual disability or developmental delay.

What causes Aicardi syndrome?

The exact cause of Aicardi syndrome is not known. However, doctors speculate that it is caused by a first-time mutation in the child’s genes, specifically on the X chromosome (since the disorder primarily affects females). The exact gene that is affected is still unknown.

What are the symptoms of Aicardi syndrome?

Signs and symptoms of Aicardi syndrome associated with the three characteristics listed above include:

• Yellowish spots on the eyes
• A coloboma (a hole or gap in one of the eye structures)
• Abnormally small eyes
• Unusually small head
• Hand deformities
• Intellectual disabilities or developmental delays
• Difficulty eating, diarrhea, constipation, gastroesophageal reflux
• Spasticity i.e. stiff and rigid muscles

The eye problems that occur with Aicardi syndrome are associated with vision impairment and/or blindness, and the brain problems can result in fluid-filled cysts in the brain. Additional physical abnormalities in patients with Aicardi syndrome include a flatter nose, larger ears, and/or a smaller space between the upper lip and nose.

How is Aicardi syndrome diagnosed?

Usually, doctors can diagnose Aicardi syndrome after a thorough clinical examination and a review of the child’s symptoms. Even so, Aicardi syndrome can present itself differently in each case, so the following tests can help confirm a diagnosis:

• Eye examinations
• EEG test to evaluate the electrical activity of the brain
• MRI or CT scan

What are the available treatments for Aicardi syndrome?

Currently, there is no cure for Aicardi syndrome, so treatment is symptomatic and supportive, primarily by controlling the seizures and spasms that are brought on by the disease. However, there is not one medication that works for everyone with Aicardi syndrome, so doctors will try a number of different medications to see which works best for every particular case.

Where can I find more information on Aicardi syndrome?

• Healthline
• National Organization for Rare Disorders (NORD)
• Aicardi Syndrome Foundation