Aicardi Syndrome – What is it, Causes and Treatments
What is Aicardi Syndrome: 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 absent. The disorder occurs almost exclusively in newborn girls. Medical researchers do not believe the disorder is passed from parents to children.
The exact cause of Aicardi Syndrome is not known. However, it is thought to be caused by a mutation first in the child’s genes. Since the disorder primarily affects females, researchers believe the mutation occurs specifically on the X chromosome, which is one of the two sex chromosomes. Females have two X chromosomes. Males typically have an X chromosome and a Y chromosome.
What are the symptoms of Aicardi Syndrome: Symptoms of Aicardi Syndrome usually appear in babies between the ages of 2 and 5 months old. Your child may start to fidget or have infantile spasms, a type of seizure that occurs in babies. These seizures can develop into epilepsy later in life. Your child may also develop yellowish spots in their eyes . Damage to the retina, which is the light-sensitive tissue layer at 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 eye ‘s structures
- Abnormally small eyes
- An unusually small head
- hand deformities
- intellectual difficulties
- delays in development
- difficulty eating
- diarrhea
- Constipation
- gastroesophageal reflux
Spasticity, which is a condition that causes stiff, 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 nose. Since Aicardi Syndrome can result in poorly developed eyes , children can experience impaired vision or blindness.
What Causes Aicardi Syndrome: Aicardi Syndrome often appears in women as well as boys with Klinefelter syndrome, a condition in which a male has an extra X chromosome. For these reasons, researchers believe the disorder is caused by a defect in the X chromosome.
People normally have 46 chromosomes in each cell. Two of the 46 chromosomes are sex chromosomes, known as X and Y. They help determine whether someone will develop male or female sex characteristics. Females have two X chromosomes, while males usually have an X chromosome and a Y chromosome.
How Aicardi Syndrome is Diagnosed: Doctors can usually diagnose Aicardi Syndrome based on symptoms. However, since each child may have different symptoms, additional tests may be necessary. Some tests that are used to help doctors make a diagnosis include:
- eye exams
- An electroencephalogram (EEG), which evaluates the brain’s electrical activity and detects seizure activity
- An MRI or CT scan, which provides detailed anatomical images of the head and brain
How Aicardi Syndrome is 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 controlling the seizures and spasms caused by the disorder. There are also programs available to help children and their parents deal with the intellectual disabilities and developmental delays that often accompany Aicardi Syndrome . Your child’s doctor will 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 to manage long-termAicardi syndrome . Doctors in these other fields can also be consulted based on the symptoms and severity of the syndrome:
- neurosurgery
- ophthalmology
- orthopedics
- Gastroenterology
- Physiotherapy
- speech therapy
- occupational therapy