Aircardi syndrome is a rare multisystem disorder first described by a French neurologist, Jean Dennis Aicardi in 1965. It occurs almost exclusively in females although rare males with chromosomal abnormalities have also been described.
This disorder is often diagnosed in infants and young children with spasms or seizures, and developmental delay resulting from failure of the brain to develop normally. The facial appearance is considered distinctive with a narrow nasal bridge, upturned tip of the nose, and a narrow nasal bridge. There is a wide range of severity in this disorder as only some patients have seizures, and, while some have significant mental retardation, others can function at a near normal level.
The genetic defect causing this disorder is presumed to reside on the X chromosome since, with rare exceptions, only females have been diagnosed. No specific mutation has been identified, however. It is presumed that most cases are due to new mutations since it is almost never found in siblings. The reason for the absence of affected males is considered to result from the presumed lethal nature of the genetic defect in males who, of course, have only one X chromosome and lack a second one that would aid in modifying the effects of the mutation. The majority of cases are presumed to result from new mutations as familial cases are exceedingly rare.
The diagnosis can only be made by a physician who recognizes the facial characteristics in association with the neurological symptoms and the MRI abnormalities in the brain. Blood studies are not helpful in Aicardi syndrome. This disorder is apparently stable with no evidence of progression. No treatment is available.