Aicardi syndrome refers to a genetic disorder that disrupts the formation of the corpus callosum. It is a rare genetic condition. The corpus callosum is the structure that links two sides of your brain. Corpus callosum is completely or partially missing in people with Aicardi syndrome.
Commonly, newborn girls suffer from this disorder. Medical researches do not have any evidence of passing this syndrome from parents to girls. They are not sure about the exact cause of Aicardi syndrome.
However, some researchers believe that mutation in the genes of the child that occurs the first time can cause Aicardi syndrome. Primarily, this disorder appears in females. Researchers believe that specifically, X chromosomes have such mutations.
X chromosomes refer to one of the two chromosomes linked with sex. These chromosomes are present in two numbers in females while males have on X chromosomes. They also have one Y chromosome. People who suffer from Aicardi syndrome may have the following conditions.
- A total or partial absence of corpus callosum
- Chorioretinal lacunae or appearance of lesions in the area of the light-sensitive layer of the tissue present at the back of the eye
- Seizures that appear during infancy
Do not consider that everyone who has
Aicardi syndrome suffers from these issues. Some may have certain additional abnormalities in the area of the face, brain, and eyes. The severity of symptoms may depend from individual to individual.
Some get severe seizures, while others get symptoms at a mild level. Some may not live well in their childhood, while others live well into the age of their adulthood.
Symptoms
Usually, babies between the age of two to five months suffer from Aicardi syndrome. Your child can get infantile spasms that are the type of seizure. It usually appears in infants. Some children can get jerky with Aicardi syndrome.
Later on in life, these seizures may develop and lead to epilepsy. Some people may notice spots of yellow color in the eyes of their children. Some children get lesions on the area of their retina, which is the layer of tissue present at the back area of the eye.
This layer is light-sensitive. Following are some other symptoms that denote Aicardi syndrome.
- Constipation and hand deformities
- A coloboma, which is a gap in one of the structures present in your eye
- Small eyes that are abnormal
- A small head that is not usual
- Developmental delays and intellectual disabilities
- Problems in eating and diarrhoea
- Gastroesophageal reflux
- Spasticity, which refers to a condition that makes your muscles rigid and stiff
There are some additional symptoms of Aicardi syndrome. These symptoms include abnormalities of the spine and rib-like scoliosis. The facial features of children who have Aicardi syndrome may be unusual such as smaller space between the area of upper lip and nose, flatter nose, and larger ears.
Aicardi syndrome can cause poor development of the eyes. It can result in blindness or impaired vision. Researchers have also reported that children who have Aicardi syndrome may also have fewer folds in the area of their brain.
The grooves in the brain of children with Aicardi syndrome are also present in a fewer amount than normal. These children may also have fluid-filled cysts in the area of their brain.
Causes
Most females and boys who have Klinefelter’s syndrome (a condition in which an additional X chromosome is present in males) suffer from Aicardi syndrome. These are the reasons researchers report that the disorder may appear as a result of defects present in the X chromosome.
Normally, 46 chromosomes are present in people. Two of these 46 chromosomes are linked to sex. They are also called sex chromosomes. These are X and Y chromosomes. Moreover, these chromosomes determine whether an individual will be a male or a female.
When an embryo develops normally, one active X chromosome should be present in each cell. It means during the formation of the cell, one of the two X chromosomes should be deactivated randomly.
According to researchers, deactivation of this X chromosome does not occur randomly. After this, one X chromosome remains active in the formation of body cells. It refers to skewed X-inactivation. Researchers are finding the exact gene that causes this condition.
They do not know the exact cause of this disorder. There is a lack of information on Aicardi syndrome. That’s why it is not possible to determine the exact risk factors of Aicardi syndrome.
