DefinitionAicardi syndrome is a rare disorder passed down through families (inherited) in which the structure that connects the two sides of the brain (called the corpus callosum) is partly or completely missing.
Causes, incidence, and risk factorsThe 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.The disorder affects only girls.
SymptomsSymptoms usually 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)Intellectual disabilitySmaller-than-normal eyes (microphthalmia)
Signs and testsChildren are diagnosed with Aicardi syndrome if they meet the following criteria:Corpus callosum that is partly or completely missingFemale sexSeizures (typically beginning as infantile spasms)Sores on the retina (retinal lesions) or optic nerveIn 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 headEEGEye examMRIOther procedures and tests may be done, depending on the person.
TreatmentTreatment is supportive. It involves managing seizures and any other health concerns, and using programs to help the family and child cope with delays in development.
Support GroupsAicardi Syndrome Foundation - www.aicardisyndrome.orgNational Organization for Rare Disorders (NORD) - www.rarediseases.org
Expectations (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.
ComplicationsComplications depend on the severity of symptoms.
Calling your health care providerCall your health care provider if your child has symptoms of Aicardi syndrome. Seek emergency care if the infant is having spasms or a seizure.
ReferencesGlasmacher MA, Sutton Vr, Hopkins B, Eble T, Lewis RA, Park Parsons D, et al. Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. J Child Neurol. 2007;22:176-184.Kinsman SL, Johnston MV. Agenesis of the corpus callosum. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 585.8.