What Is Aicardi Syndrome?

May 01 11:37 2019 Print This Article

It is defined as a disorder in which there is a malformation syndrome. It is a genetic problem. In this case there is a partial or complete absence of the brain structures. It is known as the corpus callosum along with the other structures like abnormalities in the retina, seizures as an infantile spasm. It is mainly caused due to the defect seen in the x chromosome. It is mainly seen in the girls or boys who are already suffering from the Klinefelters syndrome. The discovery of gene must be needed to done in order to confirm this theory. After the baby reaches up to 5 months of age the symptoms appear.

What are the signs and symptoms of Aicardi syndrome?

It includes the children mainly before the age of 5 months. Most of the girls who are suffering from this disorder are produced from a normal birth. They develop normally at the age of 3 months. They have an infantile spasm later on. It occurs due to the closure of main neural synapses in the brain. It is a normal stage of development of brain.

What is the treatment of Aicardi syndrome?

It includes the management of seizures mainly. In this there are early intervention programs which lead to the delay in development. There are other complications which are seen in the case of this syndrome involving the poren cephalic cysts and hydro cephalus. One can also observe the gastro intestinal problems. The treatment of poren cephalic cysts and hydro cephalous occurs with the help of shunt. In the case of cysts one can also go for a endo scopic fenestrations. Some of them require no treatment. The hernias can be treated by a placement of the feeding tube and fundo placation. It can also be done with the help of surgeries. There are other gastro intestinal problems in the structure which can lead to the problems in the gastro intestinal tissues.

What is the epidemiology of Aicardi syndrome?

It includes the prevalence which is in many thousands of this disorder. In the United States alone 900 cases have been reported.

What is the diagnosis of Aicardi syndrome?

It includes the three main features mainly. The classic feature which is not present does not include the diagnosis of this syndrome. The other features are the partial or full absence of the corpus callosum in brain and are referred as the agenesis of corpus callosum. There are problems in the eye which is referred as the lacunae of retina. This feature is quite specific. The development of seizures in the infancy is known as infantile spasms. There are other defects in the brain which include the micro cephaly, poren cephalic cysts and large ventricles of the cerebellum. It also occurs due to the hydro cephalus and is quite common in this syndrome.

What is the genetics of Aicardi syndrome?

It includes the females mainly. The males which have been identified by this disorder have 47 chromosomes which also include the XXY sex chromosome. This condition is referred as the klinefelter syndrome. This condition is life threatening in the males. It is quite lethal in the males which have single x chromosome along with the y chromosome. It is inherited in the x linked dominant pattern. This occurs due to the mutation of gene which is seen in the cases of X chromosome which is quite lethal in xy males. Most of the cases of this disorder are due to the mutations which are new. There is no person with this syndrome who is known to have transmitted the x linked gene which may lead to this condition in the next generation.

What is the history of Aicardi syndrome?

It includes the discovery of the disorder by a J Aicardi. He is a neurologist of France. It was discovered in the year 1965. There was a review article published by him. It was published in the year 1998 and gave a description about this disorder. This syndrome must not be studied along with the Aicardi-Goutières syndrome which has a separate entity.

What is the prognosis of Aicardi syndrome?

It includes the not so stable prognosis which keeps on changing. It depends on the extent of symptoms. The people who are reported to have this syndrome do have a delay in the significant degree which can lead to the mental retardation. The age of the individual with this syndrome ranges from birth to 40. There is no specific treatment for this disorder.