Aicardi syndrome is a disorder that occurs almost exclusively in females. It is characterized by three main features that occur together in most affected individuals. People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum). They have seizures beginning in infancy (infantile spasms), which tend to progress to recurrent seizures (epilepsy) that can be difficult to treat. Affected individuals also have chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye (retina).
The cause of Aicardi syndrome is unknown. Because it occurs almost exclusively in females, researchers believe that it is probably the result of a mutation in a gene on the X chromosome. People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Genes on these chromosomes are also involved in other functions in the body. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY).
Aicardi syndrome is a very rare disorder. It occurs in about 1 in 105,000 to 167,000 newborns in the United States. Researchers estimate that there are approximately 4,000 affected individuals worldwide.
Nearly all known cases of Aicardi syndrome are sporadic, which means that they are not passed down through generations and occur in people with no history of the disorder in their family. The disorder is believed to result from new gene mutations.
Elliott Sherr is a Neurologist and a Child Neurologist in San Francisco, California. Dr. Sherr has been practicing medicine for over 27 years and is rated as an Elite doctor by MediFind in the treatment of Aicardi Syndrome. He is also highly rated in 19 other conditions, according to our data. His top areas of expertise are Corpus Callosum Agenesis, Aicardi Syndrome, Acrocallosal Syndrome, and Cerebellar Agenesis. He is licensed to treat patients in California. Dr. Sherr is currently accepting new patients.
Silvia Masnada is in Milan, Italy. Masnada is rated as a Distinguished expert by MediFind in the treatment of Aicardi Syndrome. She is also highly rated in 9 other conditions, according to our data. Her top areas of expertise are Aicardi Syndrome, Leukodystrophy, Aicardi-Goutieres Syndrome, and Primary Familial Brain Calcification.
Caroline Lund is in Oslo, Norway. Lund is rated as a Distinguished expert by MediFind in the treatment of Aicardi Syndrome. She is also highly rated in 3 other conditions, according to our data. Her top areas of expertise are Aicardi Syndrome, Lennox-Gastaut Syndrome, Corpus Callosum Agenesis, and Seizures.
Published Date:updated Last, June
Published By: National Institutes of Health