Aicardi Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Aicardi Syndrome?
A pediatric neurologist, a children's brain and nerve doctor, usually leads care for Aicardi syndrome. A pediatric ophthalmologist, an eye doctor for children, checks the eyes. Care often involves a team of therapists. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Aicardi syndrome?
Aicardi syndrome is a very rare disorder that affects the brain and the eyes. It happens almost only in girls. Doctors look for three main features.
- A missing or underdeveloped corpus callosum. This is the tract that links the left and right halves of the brain.
- Chorioretinal lacunae. These are defects in the retina, the light-sensitive tissue at the back of the eye.
- Infantile spasms. These are sudden jerking seizures that start in a baby's first year.
Some children have only two of these features. Aicardi syndrome is seen in about 1 in 105,000 to 167,000 newborns in the United States. About 4,000 people have it worldwide.
Symptoms
Symptoms most often start when a baby is between 3 and 5 months old. Infantile spasms are the most common type of seizure in babies with this syndrome. The folds and grooves on the surface of the brain often do not develop properly.
Other problems are common. They can include:
- Developmental delay and intellectual disability, which can range from mild to severe.
- Vision problems from eye changes, such as an underdeveloped optic nerve or microphthalmia (eyes that are smaller than normal).
- Small or malformed hands.
- Scoliosis, a curve in the spine, and rib changes.
- Feeding problems, constipation or diarrhea, and reflux, where stomach contents come back up.
Many children develop other seizure types as they grow. Some of these seizures do not respond well to medicine.
Causes and who gets it
The cause of Aicardi syndrome is unknown. Because it happens almost only in girls, researchers believe a gene change on the X chromosome is involved. The exact gene has not been identified.
Nearly all cases are sporadic, which means the child has no family history of the disorder. The gene change likely happens by chance during the formation of eggs or sperm, or early in development. The syndrome appears to affect all ethnic groups equally.
How doctors diagnose it
Doctors base the diagnosis on a child's features. The three classic features confirm it. Two of the three, plus at least two other signs, strongly suggest it.
Tests include an MRI (magnetic resonance imaging) or CT (computed tomography) scan of the head to view the brain. An EEG (electroencephalogram) records brain waves to check seizures. A full eye exam looks for retinal lesions (sores on the retina) and other eye changes.
Treatment
Treatment is done to help prevent symptoms. It involves managing seizures and any other health concerns. Care is planned child by child.
A pediatric neurologist with expertise in infantile spasms and epilepsy leads long-term care. Infantile spasms are often treated with ACTH, a hormone medicine, prednisone, a steroid, or vigabatrin. Most children need more than one anti-seizure medicine. The medicines may change over time, as seizure types change.
Physical therapy, occupational therapy, and speech therapy should start at the time of diagnosis. Care also supports the spine and aims to prevent scoliosis complications.
When to see a doctor
Call 911 or go to the emergency room if an infant is having spasms or a seizure, has trouble breathing, has blue or grey skin, or is hard to wake up. Contact your doctor if your child has symptoms of Aicardi syndrome.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. After a diagnosis, your doctor can follow your child's growth and development and keep the specialists' plans in one place. Your doctor can also help with the routine care that children with long-term conditions need.
Common questions
Is Aicardi syndrome life threatening?
It varies. Children with severe signs and symptoms may not survive past childhood, while those with milder features can survive into adulthood.
Does Aicardi syndrome run in families?
Almost never. Nearly all cases are sporadic, with no family history. The chance of it happening again in a family is thought to be less than 1%.
What is the outlook for a child with Aicardi syndrome?
It depends on how severe the symptoms are. Nearly all children have severe learning difficulties and depend on others for care. A few develop some language, and some can walk on their own or with support. Vision varies from normal to blind.
Can Aicardi syndrome be seen before birth?
Not for certain. Prenatal ultrasound or MRI findings may suggest it when the corpus callosum is missing. However, no findings are diagnostic.
Sources
- MedlinePlus Genetics - Aicardi syndrome
- National Organization for Rare Disorders - West Syndrome (infantile spasms)
- NIH NCBI Bookshelf - Aicardi Syndrome (GeneReviews)
- MedlinePlus - Aicardi syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
