Aicardi Syndrome Causes, Symptoms, Diagnosis, and Treatment

Aicardi syndrome is a rare genetic disorder characterized by abnormal growth of the corpus callosum, the structure that links the two hemispheres of the brain. In persons with Aicardi syndrome, the corpus callosum is completely or partially missing. Almost all newborn girls are affected. Medical studies claim that parents cannot convey the illness to their offspring.

The exact cause of Aicardi syndrome is uncertain. However, the cause is most likely to be a first-time mutation in the child's genes. Because the illness only affects females, experts believe that the mutation specifically affects the X chromosome, one of the two sex chromosomes. In females, the X chromosome is found in two copies whereas the males have one X and one y chromosome.

Patients with Aicardi syndrome frequently experience the infantile convulsions or spasms that begin in infancy a partial or complete absence of corpus callosum chorioretinal lacunae, or lesions in the tissue layer in the rear of the eye that is sensitive to light

Not all patients with Aicardi syndrome exhibit these traits. However, some people could also show signs of further facial, ocular, and brain issues. The degree of symptoms might differ widely from person to person. While some people have very severe seizures and may not live through childhood, others have less severe symptoms and may live well into adulthood.

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Causes of Aicardi Syndrome

Klinefelter's syndrome, a condition in which a man has an extra X chromosome, is the cause of the majority of cases of Aicardi syndrome, which affect both boys and girls. X chromosomal anomaly is thought to be the cause of the illness based on these factors, according to doctors.

There are 46 chromosomes by default in each cell of a human. The two sex chromosomes, or X and Y, are part of the 46 chromosomes. They have an impact on whether someone develops features associated with the male or female sex. One X and one Y chromosome are commonly found in males, but two X chromosomes are frequently found in females.

During normal development, an embryo should only have one active X chromosome per cell. This suggests that one of the two X chromosomes in a female embryo must be inactive by chance during cell division. Researchers think that in the instance of Aicardi syndrome, the X chromosome's inactivation does not alternate randomly. As a result, one functional X chromosome can be found in more than half of the body's cell types. 

Researchers have not yet pinpointed the particular gene that causes skewed X-inactivation, therefore they are unable to determine what causes the illness in the first place. This knowledge gap makes it extremely difficult to pinpoint the causes of Aicardi syndrome.

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Symptoms of Aicardi Syndrome

Symptoms of Aicardi syndrome typically occur in infants between the ages of 2 and 5 months. Your child may start jerking or experiencing infantile spasms, an infantile seizure type. Later in life, these seizures may progress to epilepsy. Additionally, your youngster may get yellow spots in their eyes. These spots are brought on by lesions on the retina, the tissue layer at the back of the eye that is light-sensitive.

These are some more signs of Aicardi syndrome:

• A coloboma is an abnormally small eye hole or gap in one of the eye's structures.
• a head that is extremely tiny and hand anomalies
• intelligence impairments
• developing slowly
• eating issues, diarrhea, and constipation
• stomach acid reflux
• Muscles that are rigid and tense are caused by the condition of spasticity.
• Rib and spine abnormalities, such as scoliosis, are further signs of Aicardi syndrome. A flatter nose, larger ears, or a narrower distance between the upper lip and nose may also be present in children with this disease. Children with Aicardi syndrome who have underdeveloped eyes may go blind or have vision problems.
• The brains of children with Aicardi syndrome may have fewer folds and grooves than a typical brain, according to research. Cysts that contain fluid may also exist in the brain.

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Diagnosis Of Aicardi Syndrome

Typically, a clinician can diagnose Aicardi syndrome just by looking at the symptoms. However, since each child may have different symptoms, more testing may be necessary. Doctors utilize the tests listed below to help in diagnosis:

examinations of the eyes, an electroencephalogram (EEG), which measures the electrical activity of the brain and searches for seizure activity, and an MRI or CT scan that produces detailed anatomical images of the head and brain.

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Treatment Of Aicardi Syndrome

Aicardi syndrome is not currently known to have a cure. Nevertheless, some symptoms are manageable with medicine. The most common therapy approach is managing the seizures and spasms that the condition generates. 

There are also courses available to help parents and children deal with the intellectual disabilities and developmental delays that typically accompany Aicardi syndrome. Your child's doctor will probably advise you to consult a pediatric neurologist for extra testing. A pediatric neurologist is a doctor who specializes in treating children with neurological conditions. They can help in the long-term management of your child's Aicardi syndrome.

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