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Aicardi syndrome
Agenesis of corpus callosum with chorioretinal abnormality; Agenesis of corpus callosum with infantile spasms and ocular abnormalities; Callosal agenesis and ocular abnormalities; Chorioretinal anomalies with ACC
Aicardi syndrome is a rare disorder. In this condition, the structure that connects the two sides of the brain (called the corpus callosum) is partly or completely missing. Nearly all known cases occur in people with no history of the disorder in their family (sporadic).
Causes
The cause of Aicardi syndrome is unknown at this time. In some cases, experts believe it may be a result of a gene defect on the X chromosome .
X chromosome
Chromosomes are structures found in the center (nucleus) of cells that carry long pieces of DNA. DNA is the material that holds genes. It is the bu...
The disorder affects only girls.
Symptoms
Symptoms most often start when the child is between ages 3 and 5 months. The condition causes jerking (infantile spasms), a type of childhood seizure.
Aicardi syndrome may occur with other brain defects.
Other symptoms may include:
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Coloboma
(cat's eye)
Coloboma
Coloboma of the iris is a hole or defect of the iris of the eye. Most colobomas are present since birth (congenital).
ImageRead Article Now Book Mark Article -
Intellectual disability
Intellectual disability
Intellectual disability is a condition diagnosed before age 18 that includes below-average intellectual function and a lack of skills necessary for d...
Read Article Now Book Mark Article - Smaller-than-normal eyes (microphthalmia)
Exams and Tests
Children are diagnosed with Aicardi syndrome if they meet the following criteria:
- Corpus callosum that is partly or completely missing
- Female sex
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Seizures
(typically beginning as infantile spasms)
Seizures
A seizure is the physical findings or changes in behavior that occur after an episode of abnormal electrical activity in the brain. The term "seizure...
ImageRead Article Now Book Mark Article - 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:
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CT scan of the head
CT scan of the head
A head computed tomography (CT) scan uses many x-rays to create pictures of the head, including the skull, brain, eye sockets, and sinuses.
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EEG
EEG
An electroencephalogram is a test to measure the electrical activity of the brain.
ImageRead Article Now Book Mark Article - Eye exam
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MRI
MRI
A magnetic resonance imaging (MRI) scan is an imaging test that uses powerful magnets and radio waves to create pictures of the body. It does not us...
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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.
Support Groups
Aicardi Syndrome Foundation -- ouraicardilife.org
National Organization for Rare Disorders (NORD) -- www.rarediseases.org
Outlook (Prognosis)
The outlook depends on how severe the symptoms are and what other health conditions are present.
Nearly all children with this syndrome have severe learning difficulties and remain completely dependent on others. However, a few have some language abilities and some can walk on their own or with support. Vision varies from normal to blind.
Possible Complications
Complications depend on the severity of symptoms.
When to Contact a Medical Professional
Call your health care provider if your child has symptoms of Aicardi syndrome. Seek emergency care if the infant is having spasms or a seizure.
References
Beres S. Aicardi syndrome. American Academy of Ophthalmology Web site. www.aao.org/pediatric-center-detail/neuro-ophthalmology-aicardi-syndrome . Accessed September 27, 2016.
Kinsman SL, Johnston MV. Congenital anomalies of the central nervous system. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 591.
US National Library of Medicine. Aicardi syndrome. Updated September 20, 2016. ghr.nlm.nih.gov/condition/aicardi-syndrome . Accessed September 27, 2016.
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Corpus callosum of the brain - illustration
The corpus callosum is the structure deep in the brain that connects the right and left hemispheres of the cerebrum, coordinating the functions of the two halves.
Corpus callosum of the brain
illustration
Review Date: 8/31/2016
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
