BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuAicardi syndromeAgenesis of corpus callosum with chorioretinal abnormality; Agenesis of corpus callosum with infantile spasms and ocular abnormalities; Callosal agenesis and ocular abnormalities; Chorioretinal anomalies with ACCAicardi 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 chromosomeChromosomes 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...ImageRead Article Now Book Mark Article 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:Coloboma (cat's eye) ColobomaColoboma 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 disabilityIntellectual 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 Seizures (typically beginning as infantile spasms) SeizuresA seizure is the physical changes in behavior that occurs during an episode of specific types of abnormal electrical activity in the brain. The term ...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:CT scan of the head CT scan of the headA head computed tomography (CT) scan uses many x-rays to create pictures of the head, including the skull, brain, eye sockets, and sinuses.ImageRead Article Now Book Mark Article EEG EEGAn electroencephalogram (EEG) is a test to measure the electrical activity of the brain.ImageRead Article Now Book Mark Article Eye exam MRIMRIA 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...ImageRead Article Now Book Mark Article 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.orgNational Organization for Rare Disorders (NORD) -- 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 Contact your health care provider if your child has symptoms of Aicardi syndrome. Seek emergency care if the infant is having spasms or a seizure.Open ReferencesReferencesAmerican Academy of Ophthalmology website. Aicardi syndrome. www.aao.org/pediatric-center-detail/neuro-ophthalmology-aicardi-syndrome. Updated September 2, 2020. Accessed October 25, 2022.Kinsman SL, Johnston MV. Congenital anomalies of the central nervous system. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 609.Samat HB, Flores-Samat L. Developmental disorders of the nervous system. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ, eds. Bradley and Daroff's Neurology in Clinical Practice. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 89.AllVideoImagesTogCorpus 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 brainillustrationCorpus 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 brainillustrationRelated Information Review Date: 7/28/2022 Reviewed By: Charles I. Schwartz, MD, FAAP, Clinical Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, General Pediatrician at PennCare for Kids, Phoenixville, PA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. 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Aicardi syndromeAgenesis of corpus callosum with chorioretinal abnormality; Agenesis of corpus callosum with infantile spasms and ocular abnormalities; Callosal agenesis and ocular abnormalities; Chorioretinal anomalies with ACCAicardi 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 chromosomeChromosomes 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...ImageRead Article Now Book Mark Article 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:Coloboma (cat's eye) ColobomaColoboma 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 disabilityIntellectual 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 Seizures (typically beginning as infantile spasms) SeizuresA seizure is the physical changes in behavior that occurs during an episode of specific types of abnormal electrical activity in the brain. The term ...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:CT scan of the head CT scan of the headA head computed tomography (CT) scan uses many x-rays to create pictures of the head, including the skull, brain, eye sockets, and sinuses.ImageRead Article Now Book Mark Article EEG EEGAn electroencephalogram (EEG) is a test to measure the electrical activity of the brain.ImageRead Article Now Book Mark Article Eye exam MRIMRIA 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...ImageRead Article Now Book Mark Article 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.orgNational Organization for Rare Disorders (NORD) -- 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 Contact your health care provider if your child has symptoms of Aicardi syndrome. Seek emergency care if the infant is having spasms or a seizure.Open ReferencesReferencesAmerican Academy of Ophthalmology website. Aicardi syndrome. www.aao.org/pediatric-center-detail/neuro-ophthalmology-aicardi-syndrome. Updated September 2, 2020. Accessed October 25, 2022.Kinsman SL, Johnston MV. Congenital anomalies of the central nervous system. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 609.Samat HB, Flores-Samat L. Developmental disorders of the nervous system. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ, eds. Bradley and Daroff's Neurology in Clinical Practice. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 89.