Aicardi syndrome is a rare genetic disorder characterized by infantile spasms (jerking), absence of the corpus callosum (the connection between the two hemispheres of the brain), mental retardation, and lesions of the retina of the eye or optic nerve.
Causes, incidence, and risk factors
The cause of Aicardi syndrome is unknown at this time, but is presumed to be a genetic disorder carried on the X-chromosome in some cases and a random, sporadic mutation in others. There are less than 500 cases of Aicardi worldwide.
Signs and tests
An eye exam will be performed to confirm retinal involvement. Other occasional findings with the eye exam will be micropthalmia and coloboma. The degree or level of vision varies from normal to blindness. CT scan of the head or MRI of head can confirm lack of development of the corpus callosum, brain cysts, or other brain abnormalities.
EEG can be used to help determine the type and severity of seizures.
Other procedures and tests may be performed depending on individual health concerns.
Treatment
Primarily involves medical management of seizures and any other health concerns, and early/continuing intervention programs and therapies for developmental delays.
Support groups
Aicardi Syndrome Newsletter Established in 1984 by a mother of a daughter with Aicardi Syndrome in order to provide information and support for families due to the extremely rare nature of this disorder. Publications include a bimonthly newsletter brief, and two to three large digests annually which are distributed to member families worldwide. The Newsletter has also published yearbooks, family directories, and two medical-model surveys of affected daughters. Contact: Denise Parsons
1510 Polo Fields Court
Louisville, KY 40245
(502) 244-9152
E-mail: AICNews @aol.com Aicardi Syndrome Foundation, A.S. F. A not-for-profit, tax-exempt organization, incorporated in 1991. Working in cooperation with the Aicardi Syndrome Newsletter. The Foundation is funded by private donations and various fundraising events. The A.S.F. has contributed financially to research into the causes of Aicardi Syndrome, and provides funds for the purchase of medical/adaptive equipment for affected daughters, publication and distribution of the Newsletter, and biannual Aicardi Family International Conferences. Contact: Al and Cindy Meo
450 Winterwood Drive
Roselle, IL 60172
1-800-374-8518
E-mail: aicardi@aol.com
Additional information can be found at the Aicardi Syndrome web site: www.aicardi.com
Expectations (prognosis)
Prognosis varies widely depending upon the affected child’s overall health and severity of symptoms. Nearly all have severe learning difficulties, although a few have some language abilities and some can walk independently or with support. Many remain totally dependent for their care. The known age range of affected children is from birth to 30 years of age.
Complications
Complications vary according to the degree and severity of symptoms.
Calling your health care provider
Call your health care provider or seek emergency care for spasms in an infant or epileptic seizures .