Aicardi Syndrom Essay, Research Paper
Aicardi syndrome is a rare familial upset identified by the Gallic Neurologist, Dr. Jean Aicardi in 1965. This syndrome is defined as a & # 8220 ; rare upset & # 8221 ; , intending that there are less than 20,000 instances worldwide. This syndrome is an X-linked dominant upset that has been chiefly observed in females and is presumed to be lethal in XY males.
Aicardi syndrome is a inborn upset characterized by childish cramps ( yanking ) , epileptic ictuss, mental deceleration, reduced musculus tone, and abnormalcies of the oculus. Other features include: Absence of the principal callosum, either partial or complete ( the principal callosum is the portion of the encephalon which sits between the right and left sides of the encephalon and allows the right side to pass on with the left. ) Other types of defects of the encephalon such as microcephalus, ( little encephalon ) ; enlarged ventricles ; or proencephalic cysts ( a spread in the encephalon where there should be healthy encephalon tissue )
vitamin E most normally identified with Aicardi Syndrome between the ages of three and five months. A important figure of these misss are merchandises of normal births and seem to be developing usually until around the age of three months, when they begin to hold childish cramps. The oncoming of childish cramps at this age is due to closing of the concluding nervous synapses in the encephalon, a phase of normal encephalon development. The known age scope of affected kids is from birth to the mid 20? s.
Treatment of Aicardi syndrome chiefly involves direction of ictuss and early/continuing intercession plans for developmental holds. Prognosis for these kids varies. Published medical information in professional diaries is slightly limited for a syndrome that is over 30 old ages old.
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hypertext transfer protocol: //www.ninds.nih.gov/health_and_medical/disorders/aicardi.htm