Aicard syndrome

Aicard syndrome

Aicard syndrome

Aicardi syndrome is a rare inherited disorder characterized by various congenital malformations. Like some other hereditary diseases in humans affects Aicardi syndrome primarily a gender: There are almost only girls with the syndrome known .

The reason for this is the way how the Aicardi syndrome arises : most of our genetic information is present in two copies , because the chromosomes that carry our genes exist as pairs of two equal partners. This allows an intact chromosome to compensate its partner chromosome damage under certain circumstances. Exceptions are the two chromosomes that determine our gender : Here are two different types - the X and the Y chromosome (XX in females and XY in males) . Cause of Aicardi syndrome is a newly formed damage to the genetic material on the X chromosome. When boys have the units responsible for Aicardi syndrome defect on their single X chromosome , they are not viable , so that virtually the only girl with Aicardi syndrome to the world.

A typical Aicardi syndrome malformation affects the brain : is missing here the connection between the two halves of the brain (called bars or corpus callosum ) is partially or completely (so-called corpus callosum agenesis ) . In addition, are often malformations of the spine , the ribs and eyes to see .

Other typical signs of Aicardi syndrome are similar to epilepsy seizures that develop usually within the first two to four months. Children with Aicardi syndrome are more or less mentally handicapped. Their development is delayed to varying degrees - usually the mentally influenced movements (so-called psychomotor ) remain in the course increasingly back .

The treatment aims to relieve the symptoms associated with Aicardi syndrome and to slow the disappearance of the movement - but you can cure the syndrome does not . The life expectancy is reduced : In some cases people achieve with Aicardi syndrome , although the fifth decade of life , but many patients die before they reach puberty .

Aicard syndrome

Aicardi syndrome : definition

The term Aicardi syndrome referred by definition a condition caused by an impaired embryonic development , which is characterized by malformations bestimmteangeborene :
• Particularly typical of Aicardi syndrome is a called the corpus callosum agenesis called the brain malformation : Here, the connection between the two halves of the brain (called the corpus callosum and corpus callosum ) is configured incorrectly or not at all.
• Aicardi syndrome also occur when various malformations of the spine , the ribs and eyes.
These malformations are already visible at birth , develop additional children with Aicardi syndrome usually in age from three to five months of epilepsy related seizures .
Since the Aicardi syndrome injury to the underlying genetic trait , it belongs to denErbkrankheiten . It is named after its discoverer , the hereditary disease , the French neurologist Jean Aicardi , who described the syndrome in 1969.
frequency

Aicardi syndrome has a very low incidence : So far just over 400 cases of the rare hereditary disease are known worldwide . With a few exceptions , the victims are female.

Aicardi syndrome : course

Aicardi syndrome typically takes a progressive course : the entire movement ( motor function ) to allow more and more and it comes to blindness. Almost all of those are severely disabled physically and mentally . However, an appropriate treatment can günstigauf the course of the hereditary effect : Through regular physiotherapy and occupational therapy , the progressive deterioration of motor skills can slow . However, it is not possible to completely cure the Aicardi syndrome.
forecast
Although the Aicardi Syndrome by its progressive course has a more unfavorable prognosis , there is a chance , despite the disease to reach the fifth decade of life. In general, the life expectancy is significantly reduced by the Aicardi syndrome , however : Although reach about three-quarters of the affected children 6 Age , but only 40 percent are 15 years of age . Most patients die of respiratory infections.