Aicardi Syndrome – What It Is, Causes, Symptoms and Treatments We’ll Show Now. Also, Aicardi Syndrome is a disorder that occurs almost exclusively in women. It is characterized by three main features that occur together in most affected individuals. People with Aicardi Syndrome have missing or underdeveloped tissue that connects the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum).
They have seizures starting in childhood (infantile spasms), which tend to progress to recurrent seizures (epilepsy) that can be difficult to treat. The subjects also have affected chorioretinal gaps, which are defects in the light – sensitive tissue at the back of the eye (retina).
What is Aicardi Syndrome?
The Aicardi syndrome is a rare genetic disorder that interferes with the formation of the corpus callosum, which is the structure that connects the two sides of the brain. In people with Aicardi Syndrome , the corpus callosum is partially or completely missing. The disorder occurs almost exclusively in newborns. Medical researchers do not believe the disorder is passed from parents to their children.
The exact cause of Aicardi Syndrome is not known. However, it is thought to be caused by a mutation for the first time in a child’s genes. Because the disorder primarily affects females, researchers believe the mutation occurs specifically on the X chromosome, which is one of two sex chromosomes. Females have two X chromosomes. Males typically have one X chromosome and one Y chromosome.
What are the Symptoms of Aicardi Syndrome?
The symptoms of Aicardi syndrome usually appear in infants between the ages of 2 and 5 months old. Your child may begin to push or have infantile spasms, a type of seizure that occurs in babies. These seizures may develop into epilepsy later in life. Your child may also develop yellow spots on their eyes. Retinal damage, which is the light-sensitive tissue layer on the back of the eye, causes these spots.
Other symptoms of Aicardi Syndrome include:
- A coloboma, which is a hole or space in one of the structures of the eye
- Abnormally small eyes
- An unusually small head
- Hand deformities
- Intellectual difficulties
- Developmental delays
- Difficulty eating
- Gastroesophageal reflux
- Spasticity, which is a condition that causes stiff and stiff muscles
Additional symptoms of Aicardi Syndrome include abnormalities in the ribs and spine such as scoliosis. Children with this disorder may also have unusual facial features, such as a flatter nose , larger ears, or a smaller space between the upper lip and the nose . Since Aicardi Syndrome can result in poorly developed eyes, children may experience impaired vision or blindness.
What causes Aicardi Syndrome?
The Aicardi syndrome often appears in women as well as boys with Klinefelter’s syndrome , a condition in which a male has an extra X chromosome. For these reasons, researchers believe the disorder is caused by an X chromosome defect.
People usually have 46 chromosomes in each cell. Two of the 46 chromosomes are sex chromosomes, known as X and Y. They help determine if anyone will develop male or female sexual characteristics. Females have two X chromosomes, while males usually have one X chromosome and one Y chromosome.
How is Aicardi Syndrome Diagnosed?
Doctors can usually diagnose Aicardi Syndrome based on the symptoms. However, since each child may have different symptoms, additional testing may be required. Some tests that are used to help doctors make a diagnosis include:
an electroencephalogram (EEG), which evaluates the brain’s electrical activity and detects seizure activity
an MRI or computed tomography, which provides detailed anatomical images of the head and brain
How is Aicardi Syndrome Treated?
There is no cure for Aicardi Syndrome at this time. However, some symptoms can be managed with treatment. The most common method of treatment involves the control of seizures and spasms caused by the disorder. There are also programs available to help children and their parents cope with the intellectual disabilities and developmental delays that often accompany Aicardi Syndrome . Your child’s doctor will most likely refer you to a pediatric neurologist for further evaluation. A pediatric neurologist is a doctor who specializes in treating nervous system disorders in children. They can help your child manage Aicardi Syndrome in the long term.. Doctors in these other fields may also be may be consulted based on the symptoms and severity of the syndrome:
- Speech therapy
- Occupational therapy