Specialist Web Sites

 Aicardi Syndrome Foundation

A US support group run by parents including links, research summaries, a chatroom and other forms of support for families of affected individuals.
 CAF

Contact a Family, a UK Charity which provides support for rare disabilities.
 eMedicine

Aicardi Syndrome reference pages at eMedicine.
 NINDS

Aicardi Syndrome reference page from the US National Institute of Neurological Disorders and Stroke.

Aicardi Syndrome

Wikipedia Extract : View Full Article

Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms.

Aicardi syndrome is theorized to be caused by a defect on the X chromosome as it has thus far only been observed in girls or in boys with Klinefelter syndrome.

Signs and symptoms

Children are most commonly identified with Aicardi syndrome before the age of five months. A significant number of girls are products of normal births and seem to be developing normally until around the age of three months, when they begin to have infantile spasms. The onset of infantile spasms at this age is due to closure of the final neural synapses in the brain, a stage of normal brain development[citation needed]. A number of tumors have been reported in association with Aicardi syndrome: choroid plexus papilloma (the most common), medulloblastoma, gastric hyperplastic polyps, rectal polyps, soft palate benign teratoma, hepatoblastoma, parapharyngeal embryonal cell cancer, limb angiosarcoma and scalp lipoma.

Diagnosis

Aicardi syndrome is typically characterized by the following triad of features - however, one of the "classic" features being missing does not preclude a diagnosis of Aicardi Syndrome, if other supporting features are present.

  • Partial or complete absence of the corpus callosum in the brain
  • Eye abnormalities known as "lacunae" of the retina that are quite specific to this disorder; optic nerve coloboma
  • The development in infancy of seizures that are called infantile spasms

Other types of defects of the brain such as microcephaly, polymicrogyria, porencephalic cysts and enlarged cerebral ventricles due to hydrocephalus are also common in Aicardi syndrome.

Treatment

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