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Aicardi Syndrome
Sunday, 20 June 2004
Sunday, 21 November 2004

What

Aicardi syndrome is a very rare condition characterized by infantile spasms (a type of seizure condition), partial or complete absence of the corpus callosum (an area of brain nerve fibers connecting the right and left sides of the brain), and chorio-retinal lacunae (holes in the back of the eye). Only 300-500 cases have been described worldwide. It was first described by a French neurologist named Dr. Aicardi in 1965

Who

Only girls get Aicardi syndrome, as the condition is linked to a gene on the X chromosome. If a boy has an X-chromosome with the affected gene, the baby will miscarry during pregnancy. Girls survive because they have another copy of the X chromosome as a backup. The only documented male with Aicardi Syndrome had an extra copy of the X chromosome (Klinefelters, 47XXY). A new mutation in the egg or sperm is thought to be responsible and nearly all girls with Aicardi Syndrome have never had a relative with this syndrome. It is estimated that only 2% of children with infantile spasms have this disorder. However, lack of appropriate testing may account for the small number of diagnoses. All races are affected equally.

Signs and Symptoms

Children are most commonly identified with Aicardi Syndrome before the age of 5 months. A significant number of these girls are products of normal births and seem to be developing normally until around the age of 3 months, when they begin to have infantile spasms. In an infantile spasm, the upper body flexes forward and the outstretched arms are brought toward the head. Other types of seizures can also occur and can be difficult to control. Significant developmental delay with moderate to severe mental retardation is common, likely due to underlying abnormal brain structure and injury caused by frequent seizures. Few children walk or speak. However, there is a large spectrum of symptoms. Some children may use gestures, sign language, and computer-assisted devices to communicate. Many are blinded by the chorioretinal lacunae eye abnormalities (holes in the retina) and have cataracts, small eyes, and iris malformations.

     As a result of their immobility, children may develop other complications such as stomach acid reflux disease, constipation, and scoliosis (abnormal curvature of the spine). They can develop feeding problems and aspiration pneumonia from the reflux of stomach contents. Some children may require feeding tubes and stomach surgery to prevent reflux. Ear infections are also common. The most common skin changes include enlarged blood vessels in about 20% of girls with Aicardi Syndrome, according to one study. Skin changes concerning to a primary care physician may need to be evaluated by a dermatologist. Physical deformities in Aicardi Syndrome include small or abnormally shaped skull, cleft lip/palate, and spine abnormalities.

Possible Causes

Aicardi syndrome is believed to result from a mutation on the X chromosome. The gene(s) have not yet been identified. Some believe that the abnormal brain development occurs at 4-8 weeks of pregnancy.

Diagnosis

Since the gene(s) for Aicardi Syndrome has not been identified, DNA analysis is not used for diagnosis. The presence of three features together makes the diagnosis (infantile spasms, corpus callosum defects, chorioretinal lacunae). There are no blood tests to confirm the diagnosis of Aicardi Syndrome. However, to exclude other diseases a chromosomal study and blood and urine tests are often performed.

     An electroencephalogram (EEG), a test that measures and records the electrical activity of the brain, is useful to document and classify the type of seizure. A Brain MRI will show partial or complete absence of the corpus callosum. An eye exam is necessary to confirm the chorioretinal lacunae.

Treatment

There is no cure for Aicardi Syndrome nor is there a standard course of treatment. Seizure control is the key for treatment of Aicardi Syndrome. Anti-seizure drugs, such as ACTH, Ativan, Depakene, Diastat, Dilantin, Keppra, Klonapin, Lamictal, Phenobarbital, Tegretol, Topamax, Vigabatrin, and Zonegran are often used. Consultation with a pediatric neurologist is recommended. Many children require combinations of medications to achieve seizure control. A ketogenic diet, a special high protein diet, works for some children. A vagal nerve stimulator which is a device implanted in the child's neck to detect and abort seizures, has worked for others. Hemispherectomy, or surgical removal of half of the brain, may be used as a last resort in children who fail to respond to medication.

Prognosis

A child's life span is dependent on the severity of the seizure disorder. Lung infection is the leading cause of death

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Aicardi Syndrome Foundation

http://www.aicardisyndrome.org/

This website has basic definitions, contact information, personal stories, events and fundraisers, current research, support groups, and other resources.

National Institute of Neurological Disorders and Stroke

http://www.ninds.nih.gov/disorders/aicardi/aicardi.htm

Information from the National Institutes of Health (NIH) regarding the definition, prognosis, up-to-date treatment options and research, and resources.

Google Search for Aicardi Syndrome

References and Sources

Aicardi Syndrome Foundation : http://www.aicardisyndrome.org/

National Institute of Neurological Disorders and Stroke: http://www.ninds.nih.gov/disorders/aicardi/aicardi.htm

Aicardi Syndrome: Spectrum of Disease and Long-Term Prognosis in 77 Females

Rosser TL - Pediatr Neurol - 01 Nov 2002; 27(5): 343-6.