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Home >> Health >> Conditions and Diseases >> Rare Disorders >> Aicardi Syndrome |
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Aicardi syndrome occurs as congenital disorder thought to result from either an abnormality of the X chromosome & characterized by absence of the corpus callosum, retinal abnormalities, and seizures (typically infantile cramps).
History It was 1st described by Jean Aicardi, a french neurologist in 1965.
Epidemiology There are astir Five hundred instances worldwide, nigh a lot of the two around females, because these are thought to become deadly within otherwise genetically normal males. It has been identified inside males sustaining Klinefelter syndrome, who use an additional X chromosome.
Pathophysiology
Features Tikes come virtually all ordinarily identified using Aicardi Syndrome between a ages of 3 & 5 months. a important total one girls come products of normal births & seem to exist as getting commonly until as much as the age of threesome months, after it commence to own infantile cramps. the onset of infantile cramps at this age is due to closure of the final neural synapses in the brain, a stage of normal brain development. Prognosis varies widely, though completely own household budget developmental delays of a select few degree, often moderate to severe backwardness.
Diagnosis Aicardi syndrome is characterized per charted "markers":
Treatment Professional assistance of Aicardi syndrome primarily involves management of seizures & early/continuing intervention software for developmental delays.
Prognosis A known age range of affected kids is from either birth to the mid 20’s. fr:Syndrome d'Aicardi | |
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NINDS: Aicardi Syndrome Information sheet compiled by National Institute of Neurological Disorders and Stroke with general information, and a list of organisations. Corpal A support group for the families and carers of those affected by this condition. Includes information and reports, letters, and resources. Contact a Family: Aicardi Syndrome General information, including associated conditions, plus inheritance patterns. National Library of Medicine: Aicardi syndrome provides a summary, list of synonyms, and the major features. NINDS: Agenesis of the Corpus Callosum Information sheet by the National Institute of Neurological Disorders and Stroke, including symptoms, treatment and prognosis. Medline Plus: Aicardi Syndrome Definition, symptoms, signs and treatments. Includes support group information plus an illustration. Aicardi Syndrome Foundation Information about the disease, a medical survey, where to get help, publications and a chat room for support. Megan A positive personal account. |
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