Aicardi Syndrome

Aicardi syndrome is a rare genetic disease and congenital disease characterized by partial or complete absence of the corpus callosum (the structure that connects the two hemispheres docérebro), retinal abnormalities and seizures. Other neurological damage that can be found in patients with the disease include enlargement of the ventricular system ehidrocefalia.

The disease affects individuals females and results from an abnormality located on chromosome X. However, males with Klinefelter syndrome, by having an extra X-chromosome, may suffer from it. Symptoms usually manifest from three to five months of life and include epilepsy (in the form deespasmos) deficiency on cognitive development and mental retardation.

Was first identified by French neurologist Jean Aicardi in 1965. Does not preclude the ability to walk, the ability of language is rarely present, although not precluding the ability of other forms of communication. In 2008, there were about 900 reported cases in the United States, with a total number of cases estimated at several thousand.

Treatment, Prognosis and Prevention

Treatment of Aicardi syndrome primarily involves management of seizures and early intervention programs / continue to developmental delays.

Additional complications sometimes seen with Aicardi syndrome include gastro-intestinal problems and hydrocephalus and cysts porencéphalique.

Prencephalic treatment of cysts and / or Hydrocephalus is often through a valve or endoscopic fenestration cysts, though some require no treatment.

Placement of a feeding tube and fundoplication surgery to correct hernias or other structural gastrointestinal are sometimes used to treat gastro-intestinal problems.

The prognosis varies widely from case to case, depending on the severity of symptoms. However, all subjects reported to date Aicardi syndrome were delayed in the development of a significant, often resulting in moderate to profound mental retardation. The age range of individuals reported with Aicardi syndrome is birth to 40's mid.

There is no cure for this syndrome.