Aicardi sindrom

Aicardi sindrom

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Imam malu cerkicu , tri joj je godine , doktori su joj konstatovali dijagnozu AICARDI SINDROM . Rodjena je sa problemom vida i koordinacije pokreta . Ako neko zna nesto vise o ovom sindromu ili neki sajt neka napise .



Registruj se da bi učestvovao u diskusiji. Registrovanim korisnicima se NE prikazuju reklame unutar poruka.
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Aicardi syndrome is a rare genetic disorder identified by the French Neurologist, Dr. Jean Aicardi in 1965. The number of identified cases of children with Aicardi syndrome is very difficult to calculate accurately, but has been estimated at 300 - 500 worldwide.

Aicardi syndrome is characterized by the following "markers":

Absence of the corpus callosum, either partial or complete (the corpus callosum is the part of the brain which sits between the right and left sides of the brain and allows the right side to communicate with the left.)

Infantile spasms (a form of seizures)

Lesions or "lacunae" of the retina of the eye that are very specific to this disorder

Other types of defects of the brain such as microcephaly, (small brain); enlarged ventricles; or porencephalic cysts (a gap in the brain where there should be healthy brain tissue)

(More detailed information about diagnosis can be found in a recent article by Dr. Aicardi.)

Aicardi syndrome only affects females, and in very rare cases, males with Klinefelter syndrome (XXY). It is theorized to result from a defect on an x-chromosome, though until the gene is found, this cannot be confirmed. There is only one case of siblings with the syndrome reported upon in the literature, suggesting that almost all cases are new mutations and other family members do not carry the defective gene. A more detailed explanation of the genetics of Aicardi syndrome can be found here.

Children are most commonly identified with Aicardi Syndrome before the age of five months. A significant number of these girls are products of normal births and seem to be developing normally until around the age of three months, when they begin to have infantile spasms. The known age range of affected children is from birth to the late forties.

Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays. Prognosis for these children varies. Almost all experience developmental delays, with the majority facing moderate to severe mental retardation. Published medical information in professional journals is somewhat limited and these articles are written by and for specialists. A listing of some journal articles with links to their abstracts (and full text when freely available) can be found here. Genetic research is ongoing into the cause of this disorder and the Aicardi Syndrome Foundation and newsletter member families continue to be active participants in several research projects.

http://www.aicardisyndrome.org/index.php?pname=whatis

Ne znam kakav si sa engleskim ali nisam mogla da nadjem nista na nasem jeziku.

Evo ti i rezultat Google pretrage.



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  • kogor  Male
  • Novi MyCity građanin
  • Pridružio: 20 Feb 2007
  • Poruke: 2
  • Gde živiš: Novi Sad

Hvala na informacijama , neverovatno je koliko malo uopste ima sajtova i informacija o ovom sindromu . Saznali smo da u svetu oboli samo oko petsto devojcica od aicardi sindroma pa je zato malo i zastupljen na internetu . Mislim da je ovo pravi sajt i jedini.

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