Aicardi syndrome is a disorder that occurs nearly excuse in females. It is described by three different primary features that transpire together in most people who are affected. People with Aicarid syndrome do not have or have undeveloped tissue that connects the left and right halves of the brain the dysgenesis of the corpus callosum or agenesis. They have a seizure that starts during their infancy (infantile spasms), which tend to progress to recurrent seizures epilepsy) that can be challenging to treat. Affected people also have chorioretinal lacunae, which are defects in the light- sensitive tissue at the bank of the retina /eye.
Individuals with Aicardi syndrome often have other brain abnormalities, including asymmetry between the two sides of the brain, brain grooves, and folds that are minute in size or smaller in number, enlargement of the fluid-filled ventricles cavities and cyst near the center of the brain. Some have an uncommonly small head(microcephaly).This mostly affects individuals who have moderate to severe development delay and interlocal disability However, some people with this disorder have milder disabilities.
Some people with Aicardi syndrome have distinctive facial features including photo area between the upper lip and nose (philtrum) a flat nose with an upturned top, large ears, and spare eyebrows. Other features of this condition involve small hands, hand malformations, and spinal and rib abnormalities starting the progressive abnormal curvature of the spine (scoliosis) They often have gastrointestinal difficulties such as constipation or diarrhea, gastroesophageal reflux, and difficulty feeding.
The severity of Aicardi syndrome varies. Some sufferers of this disorder have very severe epilepsy and may not remain past childhood, Less severely affected people may live into adulthood with milder signs and symptoms.
Aicardi syndrome is a very rare disorder. It occurs in about 1 in 105,00 to 167,000 newborns in the United States, Researcher estimate that there are approximately 4,000 affected individuals worldwide.
Genetic Changes in Aicardi syndrome
The cause of Aicardi syndrome is unexplained. Since it occurs almost completely in females researchers, believe that is apparently the result of a mutation in a gene on the X chromosome. People regularly have 46 chromosomes in every cell. Two of the 46 chromosomes, known as X and Y and called sex comes because they help decide whether a person will develop male or female sex characteristics. Gene on this choose are also involve in other functions in the body. Females generally have two X chromosomes (46, XX) and males have one X choose and one Y chromosome (4 6, XY).
Early in embryonic maturation in females, one of the two X chromosomes is permanently not active in somatic cells (cells other than egg and sperm cells) X – inactivation ensures that females, like males, have one active copy of the X choose in each body cell. Usually, X inactivation occurs randomly, so that each X Chrome is active in about half the body cells. Sometimes X-inactivation is not arbitrary, and one X chromosome is active in more than half of cells. When X-inactivation do not occur randomly, it is called skewed X-inactivation.
Nearly all known cases of Aicardi syndrome are sporadic, which means that there are not passed down through generations and occur in people with no history of the disease in their family. The disorder is thought to result from new gene mutations.
Aicardi syndrome is classified as an X-lined dominant condition. While the gene linked with this disorder is not understood, it is understood to be located on the X choose in females (who have two X chromosomes ), a mutation in one of the two copies of the gene in each cell is adequate to cause the disorder. In males (who have only on X choose), a mutation in the only copy of the gene in each cell is nearly always healthy very early in development, so almost all babies with Aicarid syndrome are female. However, a few affected males with an additional copy of the X chromosome in each cell (47, XXY) have been identifying. Males with a 47, XY chromosome pattern also have a condition called Klinefelter syndrome.
Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays.
Additional complications occasionally seen with Aicardi syndrome include porencephalic cyst and hydrocephalus, and gastro -intestinal problems. Treatment for porencephalic cyst and or/hydrocephalus is often via a shunt of endoscopic fenestration of the cyst, though some require no treatment. Employment of a feeding tube, fundoplication, and surgeries to correct hernias or other national structural problems are sometimes used to treat gastrointestinal issues.
Prognosis of Airardi syndrome
The diagnosis varies widely from case to case, depending on the severity of the symptoms. However, almost all people reported with Aicardi syndrome to date have experienced a developmental delay of a significant degree, typically resulting in modest to significant intellectual disability, The age range of the people reported with Aicardi syndrome is from birth the to mid-40s. There is no cure for this syndrome.