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Aicardi Syndrome

It is a disorder that is categorized by the partial or complete malfunction of the corpus callosum, a brain structure linking two hemispheres inside it. Aicardi syndrome often causes childhood seizure (intantile spasms), eye abnormality or lesions of the retina, and metal retardation. Aicardi Syndrome is also linked to microcephaly, a brain defect; microgyria, where bumps inside the brain tend to be narrow; or porecenphalic cysts, a brain condition causing fluids to fill the gaps in the brain. Further studies also indicate that a few abnormalities may include a cleft lip and vertebral body malfunction. It is children, between three to five months, who are most often branded with Aicardi Syndrome. These children are results of normal births, but have developed the abnormality as soon as they experience brain spasms.

Infantile spasms at this age causes neural synapses to close, thereby inhibiting the babies’ brain development. Hence, most cases have moderate to very severe degrees of retardation. An infant afflicted with the syndrome may also experience delays in development. They could also have difficulty when it comes to respiratory infections like pneumonia and this could consequently cause their expiration. The neurological disorder was first diagnosed more than thirty years ago, when French doctor, Dr.

Jean Dennis Aicardi, identified eight children who continually experience infantile spasms. The doctor believed the syndrome was caused by a deficiency in the female chromosome (X). Hence, the disorder only affects majority of female infants, although there is one reported case of a baby boy diagnosed with the syndrome. Currently, there are about 500 reported cases worldwide, with only one case of siblings afflicted with the condition. Therefore it is believed that the disorder is a new mutation and not all of the family members may carry the defective gene There is currently no cure for Aicardi Syndrome. A symptomatic treatment may be recommended to manage the seizures, usually in the form of anti-seizure medicines. A few intervention programs to manage mental retardation are also administered. Physical and occupational therapy may also be recommended to aid the child in her development. The life expectancy for an infant afflicted with Aicardi syndrome is dependent on how severe the condition is. The National Institute of Neurological Disorder and Stroke (NINDS) is currently doing an extensive research on Aircardi Syndrome.

The objective is to determine and further understand the genetics involved to be able to find better treatment, prevention and ultimately, a cure for this disorder.


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