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Aicardi Syndrome
Aicardi Syndrome 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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