The cause of Aicardi Syndrome is unknown at this time. In some cases, scientists believe it may be a result of a gene defect on the X chromosome. The disorder affects only girls.
Treatment of Aicardi syndrome primarily involve management of seizures and early/continuing interference programs for developmental delays. Additional complications sometimes seen with Aicardi syndrome include porencephalic cysts and hydrocephalus, and gastro-intestinal problems. Treatment for prencephalic cysts and/or hydrocephalus is frequently via a shunt or endoscopic fenestration of the cysts, though some require no treatment. Placement of a feeding tube, fundoplication, and surgeries to correct hernias or other gastrointestinal structural problems are sometimes used to treat gastro-intestinal issues.
Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key arrangement in the brain called the corpus callosum, the presence of retinal abnormalities, and seizures in the shape of infantile spasms. Aicardi syndrome is theorized to be caused by a defect on the X chromosome as it has thus far only been observed in girls or in boys with Klinefelter's syndrome. verification of this theory awaits the discovery of the gene which causes Aicardi syndrome. Symptoms typically appear before a baby reaches about 5 months of age.