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 treatment may also be needed. In order to utilize the individual's 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.
Genetics
The syndrome is probably caused by a change (mutation) in one or more genes on the short arm of the X chromosome (Xp22), but which gene or genes are mutated is not yet (2015) known.
Diagnosis
Aicardi syndrome is typically characterized by the following triad of features - however, one of the "classic" features being missing does not preclude a diagnosis of Aicardi Syndrome, if other supporting features are present.
Epidemiology
Worldwide prevalence of Aicardi syndrome is estimated at several thousand, with approximately 900 cases reported in the United States. There is no definite information on how common Aicardi syndrome is, but the incidence is estimated to be around one in 100,000 newborns. There may be people who do not have the fully developed syndrome and who have not been diagnosed.
References
External links
- GeneReviews/NCBI/NIH/UW entry on Aicardi Syndrome
- OMIM entries on Aicardi syndrome