National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Aicardi Syndrome is not the name you expected.
Aicardi syndrome is an extremely rare genetic disorder. Almost all people with Aicardi syndrome are females. Individuals with Aicardi syndrome have agenesis of the corpus callosum, chorioretinal lacunae and seizures. Agenesis of the corpus callosum means that the structure that connects the right half of the brain with the left half of the brain (corpus callosum) does not develop normally. Chorioretinal lacunae are small holes in the retina (back part of the eye). These are only visible to a doctor using a device to look into the back of the eye. It is very unusual (maybe impossible) to have Aicardi syndrome without having chorioretinal lacunae. The seizures can be of different types. Infants with Aicardi syndrome usually have a type of seizures known as "infantile spasms". These are single jerks of the whole body. They may happen many times a day. Infants are usually awake during infantile spasms. These look different from the more common type of seizures known as "generalized tonic-clonic" seizures. Generalized tonic-clonic seizures are rhythmic jerking of arms and legs. People often black out during this type of seizure. Children with Aicardi syndrome usually grow out of infantile spasms and then have generalized tonic-clonic or other types of seizures. Other parts of the brain also do not develop normally. These brain malformations cause frequent seizures and intellectual disability.
Aicardi syndrome typically begins as involuntary muscle spasms between four months and four years of age. Other symptoms may include epilepsy, intellectual disability, profound muscle weakness (hypotonia), an abnormally small head (microcephaly), abnormally small eyes (microphthalmia), an incomplete development of the retina and nerve in the back of the eye (colobomas), and/or abnormalities of the ribs and/or spinal column. Children of all ages with Aicardi syndrome have significant delay in motor development. Aicardi syndrome can be life-threatening during childhood due to complications from upper respiratory infections.
Aicardi syndrome is likely caused by a new mutation in a gene located on the X chromosome. The gene that causes Aicardi syndrome is not known. This gene mutation is thought to be lethal in males.
The parents of a female with Aicardi syndrome are typically unaffected. Transmission of Aicardi syndrome from an affected mother to her child has not been reported. Other family members are also not usually at increased risk.
Aicardi syndrome usually affects only females. In very rare cases, males with Klinefelter syndrome (47, XXY) may have Aicardi syndrome. It has been estimated that there are between 300 and 500 cases of Aicardi syndrome worldwide. There do not appear to be any differences based on ethnicity or gender.
Symptoms of the following disorders can be similar to those of Aicardi Syndrome. Comparisons may be useful for a differential diagnosis:
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) – OMIM#152950 – can be confused with Aicardi syndrome. In MCLMR, the eye abnormalities are on the edges of the retinas, in contrast to Aicardi syndrome, where the lacunae are in the central part of the retina. Additionally in MCLMR, the head size is very small (severe microcephaly) whereas in Aicardi syndrome the head size is relatively normal. Additionally, individuals with MCLMR do not typically have agenesis of the corpus callosum or other developmental brain abnormalities typical of Aicardi syndrome.
Agenesis of the corpus callosum is a rare birth defect involving a partial or complete absence of the fibers that connect the right and left sides of the brain. Sometimes intellectual disability may result, but other cases may be without symptoms and the child may have normal intelligence. The early symptoms of this disorder may be grand mal or Jacksonian epileptic seizures. These may occur during the first weeks or within the first 2 years of life. Other early symptoms may include: abnormal accumulation of cerebrospinal fluid around the brain (hydrocephalus), impairment of mental development, and/or delays in physical development. (For more information on this disorder, choose "Agenesis of the Corpus Callosum" as your search term in the Rare Disease Database.)
It is usual, to have an MRI of the brain. This study makes pictures of the brain to look for a small or missing corpus callosum and other problems with the formation of the brain. Individuals with Aicardi syndrome should have a test to look at the brain waves (EEG) to diagnose and treat seizures. An ophthalmologist should look into the eyes at the retina. In Aicardi syndrome, this almost always reveals small cream-colored cavities (lucunae) within the retina.
Medications may be used to suppress the seizures caused by Aicardi syndrome. The seizures are often hard to treat. The doctor may need to try a number of medicines to see which medication works best. Studies have shown that there is not one medicine that works for everyone with Aicardi syndrome.
Information on current clinical trials is posted on the Internet at <a title="Clinical Trials" href="http://www.clinicaltrials.gov" target="_blank">www.clinicaltrials.gov</a>. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
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McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University.Aicardi Syndrome. Available at <a href="http://omim.org/entry/304050">//omim.org/entry/304050</a> last edit date: 09/11/2012. Accessed March 5, 2015.
Sutton VR, Van den Veyver IB. Aicardi Syndrome. 2006 Jun 30 [Updated 2014 Nov 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: <a href="http://www.ncbi.nlm.nih.gov/books/NBK1381/">//www.ncbi.nlm.nih.gov/books/NBK1381/</a> Accessed March 5, 2015.
NINDS Aicardi Syndrome Information Page. National Institute of Neurological Disorders and Stroke. Last updated September 4, 2012.
<a href="http://www.ninds.nih.gov/disorders/aicardi/aicardi.htm">www.ninds.nih.gov/disorders/aicardi/aicardi.htm</a> Accessed March 5, 2015.
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Last Updated: 4/30/2015
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