Causes and Risks:
The cause of Aicardi syndrome is unknown at this time, but is presumed to be an x-linked genetic disorder and a random, sporadic mutation; not a hereditary condition.
Symptoms:
Children are most commonly diagnosed with Aicardi Syndrome between the ages of three months and five months when, according to Doctor Jean Aicardi, the classic criteria, listed below, are met:
- Female sex (or XXY genotype male)
- Retinal lacunae - lesions of the retina
- Seizures. Typically beginning as infantile spasms a type of epileptic disorder in infants
- Agenesis of the corpus callosum (complete or partial)
refers to the congenital absence of the brain’s corpus callosum -- the massive formation of nerve fibers bridging the two cerebral hemispheres
The classic criteria remains the cornerstone of diagnosis in most patients, but in rare cases one of the features, especially agenesis of the corpus callosum, may be missing. The diagnosis can probably be made in such cases if two or more of the criteria below are present:- Cortical malformations, mostly microgyria, abnormal formations in the brain, in the case of microgyria it appears as an abnormal narrowness of the gyri. Gyri are the rounded elevations on the outside of the brain.
- Periventricular and subcortical heterotopia
a misplacement of groups of neurons in the brain sometimes found in seizure disorders - Cysts around the 3rd ventricle and/or choroid plexuses cysts in specific areas of the brain
- Papillomas of choroid plexuses a benign non-cancerous tumor found in a specific section of the brain
- Optic disc/nerve coloboma a congenital notch in the formation in the optic nerve
Other Occasional findings:- Vertebral and costal abnormalities absent or abnormal ribs or vertebra
- Microphthalmia a condition where eyes may be smaller than normal
- Other eye abnormalities such as coloboma
coloboma is defined as the absence of a portion of ocular tissue resulting in a notch or cleft-like defect in the structure - "Split-brain" EEG (dissociated suppression-burst tracing)
- Gross hemispheric asymmetry size differences between the two sections of the brain
Signs and Tests:
- An eye exam can be performed. This will confirm retinal lacunae. 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 agenesis of 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 dependent 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 Dr., Roselle, IL 60172, 1-800-374-8518; E-mail: aicardi@aol.com
Additionanl information can be found at the Aicardi Syndrome web site www.aicardi.com
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.
Call your health care provider or seek emergency care for spasms in an infant or epileptic seizures.
