Aicardi Syndrom Essay, Research Paper

Aicardi syndrome is a rare genetic disorder identified by the French Neurologist, Dr. Jean Aicardi in 1965. This syndrome is defined as a “rare disorder”, meaning that there are less than 20,000 cases worldwide. This syndrome is an X-linked dominant disorder that has been mainly observed in females and is presumed to be lethal in XY males.

Aicardi syndrome is a congenital disorder characterized by infantile spasms (jerking), epileptic seizures, mental retardation, decreased muscle tone, and abnormalities of the eye. Other characteristics include: Absence of the corpus callosum, either partial or complete (the corpus callosum is the part of the brain which sits between the right and left sides of the brain and allows the right side to communicate with the left.) Other types of defects of the brain such as microcephaly, (small brain); enlarged ventricles; or proencephalic cysts (a gap in the brain where there should be healthy brain tissue)

Children are most commonly identified with Aicardi Syndrome between the ages of three and five months. A significant number of these girls are products of normal births and seem to be developing normally until around the age of three months, when they begin to have infantile spasms. The onset of infantile spasms at this age is due to closure of the final neural synapses in the brain, a stage of normal brain development. The known age range of affected children is from birth to the mid 20?s.

Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays. Prognosis for these children varies. Published medical information in professional journals is somewhat limited for a syndrome that is over thirty years old.

Bibliography

http://www.adam.com/ency/article/001664.htm

http://www.ninds.nih.gov/health_and_medical/disorders/aicardi.htm

www.cafamily.org.uk/Direct/a28.html

www.aicardi.com