Aicardi syndrome

Disease Overview

Aicardi syndrome is a rare neurological disorder. The severity of the syndrome and the associated signs and symptoms vary from person to person. The three main features of Aicardi syndrome are:[13189][8671]

• Complete or partial absence of the nerve tissue that allows the right and left sides of the brain to communicate (corpus callosum)
• Seizures beginning in infancy (infantile spasms), that may become hard to control (refractory epilepsy)
• Defects or holes in the light sensitive tissue at the back of the eye (retina) known as chorioretinal lacunae

Other signs and symptoms may include:[13188][13189][13190]

• Developmental delay
• Intellectual disability that ranges from very mild to severe
• Characteristic facial features, such as a short distance between the nose and lips, a flat nose, large ears and thin eyebrows.
• Other brain malformations such as a very small head (microcephaly)
• Other eye defects, such as very small eyes (microphthalmia) or a defect of the nerve connecting the retina to the brain  (optic nerve) known as coloboma.

The cause of Aicardi syndrome is currently unknown. Because the syndrome almost only affects females, it is believed to be caused by a change (mutation) in a gene located on the X-chromosome and inherited in a dominant X-linked manner. However, most cases are de novo, which means the genetic change happened by mistake during the making of the egg or the sperm and there are no other cases of the syndrome in the family. While there is no known cure for Aicardi syndrome, there are treatments that can help control symptoms.[13188][13189][13190]  Seizures may be treated with ketogenic diet and different types of anti-seizure medications. If medication does not control the seizures, a vagal nerve stimulator may be used or, in more severe cases, surgery may be considered. Other treatment may include physical therapy, speech therapy, and occupational therapy, as well as support for skeletal and muscle problems to prevent scoliosis related complication.[13189][14095] Speech is usually very limited, while other abilities and disabilities vary greatly.  In cases of severe epilepsy and/or if there are serious brain or eye defects,  the intellectual disabilities tend to be more severe. The life span of girls with Aicardi syndrome usually averages between 8 and 18 years, but several women with milder symptoms have lived into their 30’s and 40’s. Very severe cases may not live beyond infancy.[13189][14096][14097]

Synonyms

• AIC
• Corpus callosum, agenesis of, with chorioretinal abnormality