Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal lacunes, and epileptic seizures in the form of infantile spasms. Other malformations of the brain and skeleton may also occur. The syndrome includes intellectual disability that is usually severe or moderate. So far, the syndrome has only been diagnosed in girls and in boys with two X chromosomes (Klinefelter syndrome). Those with Aicardi syndrome are in need of various specialist and habilitation instances. Epilepsy is treated with medication, but additional treament may also be needed. In order to utilize the girls' eyesight and investigate the need for visual aids, examination by ophthalmologist is indicated early in life. Problems from the gastrointestinal tract are frequent. In adulthood, continued habilitation efforts and support in daily life are needed. The syndrome is named after the French child neurologist Jean Dennis Aicardi, who in 1965 described it in eight girls. A causative gene has not been identified. Symptoms typically appear before a baby reaches about 5 months of age. Signs and symptoms Those with Aicardi syndrome develop normally during the first months, but later various symptoms appear due to the syndrome's characteristic malformations in the brain. It is common for girls with Aicardi syndrome to have a small head (microcephaly). At three to six months of age, the girls have epileptic seizures, often of the infantile spasm type caused by changes in the brain's gray matter, the cerebral cortex. The seizures occur either as so-called flexor spasms, when the child's neck suddenly bends forward while the arms make a clasping movement, or as other types of epileptic seizures. Seizures come in series at short intervals and may increase in number from day to day until they are broken with medication. Epilepsy usually persists for life. Most have a severe intellectual disability with a major impact on language, communication and motor skills. A few have a moderate intellectual disability. Mild intellectual disability also occurs but is very rare. The eyes are always affected, and most people have impaired vision. During an eye examination, areas with less pigment (retinal lacunae) appear as white spots in the fundus, which is due to the absence of retinal pigment cells and other structures in these areas. If the lacunae are located in the macula, they affect acuity. Other types