What Is Aicardi Syndrome?

November 2, 2020 Brain Diseases 698 Views

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Causes, Symptoms, and Treatment of Aicardi Syndrome  

Aicardi Syndrome  Meaning

Aicardi syndrome is a rare genetic disorder that occurs almost exclusively in females. This disorder interferes with the formation of the corpus callosum. The Corpus callosum is the structure that connects the left and right sides of the brain. There is a complete or partial absence of the corpus callosum in people with Aicardi syndrome. They have seizures beginning in infancy called infantile spasms, which progress into recurrent seizures called 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).

People with Aicardi Syndrome often have abnormalities in the brain, including asymmetry between the two sides of the brain, brain folds and grooves that are small in size or reduced in number, cysts, enlargement of the fluid-filled cavities near the center of the brain, and some have an unusually small head (Microcephaly). Most affected individuals have moderate to severe developmental delay that can lead to intellectual disability although some people have milder disabilities.

  • What are the Causes of Aicardi Syndrome?

  • What are the Symptoms of Aicardi Syndrome?

  • Diagnosis of Aicardi Syndrome 

  • What are the Treatments for Aicardi Syndrome? 

What are the Causes of Aicardi Syndrome?

  • Aicardi syndrome is a rare condition. This syndrome affects many people not only in the country but in the world. According to some researchers, the exact cause of this syndrome is not known. This syndrome can occur due to any problem in the body of the child. Aicardi syndrome mainly affects females. According to the doctors, some changes in the chromosomes leads to this problem. As you know, there are two sex chromosomes, X and Y.
  • Males have both X and Y chromosomes, while females have both X chromosomes. According to the research, some disturbances in the embryo alters the chromosomes. Also, if one chromosome is altered, then the other chromosome survives.
  • Further research is still underway on Aicardi syndrome but no clear cause of this syndrome has been known so far. Therefore, it becomes very difficult to know its risks.

What are the Symptoms of Aicardi Syndrome? 

Symptoms of Aicardi syndrome usually appear in babies who are two to five months old. The baby may have a seizure when symptoms begin. These seizures may develop into recurrent epilepsy. Apart from this, the child may develop yellow spots in the eyes. Other symptoms of Aicardi syndrome may include.

  • Diarrhea
  • Constipation
  • Developmental delays
  • Hand deformities
  • Difficulty eating
  • Head injury
  • Hole or gap in the eyes (coloboma)
  • Abnormal structure of the head
  • Muscle stiffness

Diagnoses of Aicardi Syndrome

  •  For the diagnosis of Aicardi syndrome, brain MRI is done. This syndrome is associated with the head, so the brain is examined. It contains the ECG through which brain activity is recorded.
  •  Ophthalmologists examine the eyes to detect the syndrome so that the cream-colored cavities can be seen within the retina.

What are the Treatments for Aicardi Syndrome? 

  • There is no specific cure for Aicardi syndrome. But some symptoms can be managed with treatment. However, this syndrome can have a different presentation in different people. This is the reason the doctor treats every patient differently.
  • In some people, in case of severe seizures, a doctor may perform brain surgery. Also, some therapies can be used for treatment like physiotherapy, speech therapy, occupational therapy, etc. With this, the symptoms can be managed, and eye problems can be corrected.

If you want more information and are seeking treatment of Aicardi syndrome, then please contact a Pediatrician. 

We only aim to give you information through the article. We do not recommend medication and treatment in any way. Only a doctor can give you good advice because no one else is better than them.

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