Aicardi syndrome
Anotusi
O le Aicardi Syndrome o se faʻamaʻi masani o le kenera e faʻaalia e le vaega poʻo le toesea o le tino o le callosum, o se vaega taua o le faiʻai e faia le fesoʻotaʻiga i le va o hemispheres o le cerebral e lua, faʻaletonu ma faʻafitauli i le retina.
O LE mafuaʻaga o le Aicardi Syndrome e faʻatatau i le fesuiaʻiga o kenera i luga o le X chromosome ma, o le mea lea, o lenei faʻamaʻi e tele lava aʻafia fafine. I aliʻi, e mafai ona aliaʻe le faʻamaʻi i tagata gasegase e maua ile Klinefelter Syndrome ona e iai le latou X faʻaopoopoga X, e mafua ai le oti i uluaʻi masina o le olaga.
E leai se togafiti a le Aicardi Syndrome ma e faʻaititia le umi e tatau ona iai, e iai foʻi gasegase e le oʻo i le talavou.
Faʻailoga o le Aicardi Syndrome
Faʻailoga o le Aicardi Syndrome mafai ona:
- Taupulega;
- Faʻaleagaina o le mafaufau;
- Tuai i atinae afi;
- Lesona i le pito o le mata;
- Malformations o le tuasivi, pei o: spina bifida, fuse vertebrae poʻo le scoliosis;
- Faigata i fesootaiga;
- Microphthalmia e mafua mai ile laʻititi ole mata pe oʻo foʻi ile leai.
O le faʻamalosi i tamaiti e maua i lenei faʻamaʻi e faʻaalia i le vave vavave o maso, ma le faʻataʻitaʻi o le ulu, faʻapipiʻi pe faʻalauteleina le ogalaau ma lima, e tele taimi e tupu ai i le aso mai le tausaga muamua o le olaga.
Oi faʻamaoniga o le Aicardi Syndrome e faia e tusa ma le uiga faʻaalia e le fanau ma neuroimaging suʻega, e pei o maneta resonance po electroencephalogram, lea faʻatagaina le faʻailoaina o faʻafitauli i le faiʻai.
Togafitiga o le Aicardi Syndrome
Ole togafitia ole Aicardi Syndrome e le faʻamaloloina le faʻamaʻi, ae e fesoasoani e faʻaititia ai faʻailoga ma faʻaleleia atili ai le olaga o tagata mamaʻi.
E togafitia faʻamalosi e fautuaina e ave vailaʻau anticonvulsant, pei o carbamazepine po valproate. Neurological physiotherapy poʻo le psychomotor stimulate e mafai ona fesoasoani e faʻaleleia le faoa.
Tele o tagata mamaʻi, e oʻo lava i togafitiga, e iʻu lava ina feoti a o le i oʻo i le 6 tausaga, masani ona o faʻalavelave manava. E seasea maua le faʻasaoina ile 18 tausaga ile faʻamaʻi lea.
Fesoʻotaʻiga aoga:
- Apert syndrome
- West syndrome
- Alport syndrome