Aicardi syndrome is a rare neurological disorder defined by agenesis of the corpus callosum (the structure connecting the left and right halves of the brain does not develop normally), infantile spasms or seizures and chorioretinal latunae (small holes in the retina). Other parts of the brain may not develop normally either, causing some intellectual disability. Additional symptoms may include involuntary muscle spasms, epilepsy, muscle weakness (hypotonia), an abnormally small head (microcephaly), abnormally small eyes (microphthalmia), an incomplete development of the back of the eye (colobomas) and/or abnormalities of the ribs or spinal column. Children of all ages with this disorder may have trouble with motor development. Aicardi syndrome primarily affects females and it is estimated that there are only 300 to 500 cases worldwide.
There is no known cure for Aicardi syndrome and because it is so rare, there is no standard course of treatment. Treatment often aims to minimize symptoms, but the syndrome is often fatal. Medication can be used to help suppress seizures and specialized therapy can help a child with developmental delays.
Aicardi syndrome can several affect a child’s lifestyle and ability to function, develop and communicate. Some people with the syndrome may find it helpful to use a wheelchair for mobility or if they are nonverbal, it may be helpful to find other ways to express themselves. There are ways to cope and manage the syndrome, though these vary widely based on the individual and his/her needs. Although Aicardi syndrome generally has a low life expectancy (many children with the syndrome pass away by adolescence), there are others who have exceeded their life expectancies and have entered adulthood.
There are several organizations and foundations that provide resources, information and support to those living with Aicardi syndrome and their families. Some of these fund research to learn more about the syndrome and eventually discover more treatment options.