Tus Sau: Frank Hunt
Hnub Kev Tsim: 17 Taug Kev 2021
Hloov Hnub: 2 Lub Kaum Ib Hli Ntuj 2024
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Rachel’s Life with Aicardi Syndrome
Daim Duab: Rachel’s Life with Aicardi Syndrome

Zoo Siab

Aicardi Syndrome yog ib hom kab mob tsis tshua muaj tshwm sim los ntawm qhov tsis muaj ib feem lossis tag nrho qhov mob tsis muaj lub cev hu ua corpus callosum, ib qho tseem ceeb ntawm lub hlwb uas ua rau kev sib txuas ntawm ob lub hlwb hlwb hemispheres, cuam tshuam thiab teeb meem hauv retina.

LUB ua rau Aicardi Syndrome nws muaj feem xyuam rau kev hloov caj ces ntawm X chromosome thiab, yog li ntawd, tus kab mob no cuam tshuam rau cov poj niam ntau xwb. Hauv cov txiv neej, tus kab mob no tuaj yeem tshwm sim hauv cov neeg mob Klinefelter Syndrome vim tias lawv tau muaj X chromosome ntxiv, uas tuaj yeem ua rau tuag nyob hauv thawj lub hlis ntawm lub neej.

Aicardi Syndrome tsis muaj kev kho tau thiab lub neej muaj kev cia siab txo qis, nrog rau kis mob uas cov neeg mob tsis ncav cuag thaum tiav hluas.

Cov tsos mob ntawm Aicardi Syndrome

Cov tsos mob ntawm Aicardi Syndrome tuaj yeem yog:

  • Kev nrawm nrawm;
  • Hlwb ruam;
  • Ncua hauv kev tsav tsheb;
  • Cov nqaij nyob hauv qhov retina ntawm lub qhov muag;
  • Ua haujlwm tsis zoo ntawm lub txha nraub qaum, xws li: tus txha caj qaum bifida, fused vertebrae lossis scoliosis;
  • Kev nyuaj ntawm kev sib txuas lus;
  • Microphthalmia uas tshwm sim los ntawm qhov me me ntawm lub qhov muag lossis txawm tias tsis tuaj.

Kev qaug dab peg hauv cov menyuam yaus uas muaj tus mob no yog pom los ntawm cov leeg sai sai, nrog hyperextension ntawm lub taub hau, hloov kho lossis txuas ntxiv ntawm pob tw thiab caj npab, uas tshwm sim ntau zaus hauv ib hnub los ntawm thawj xyoo ntawm lub neej.


O kev kuaj mob ntawm Aicardi Syndrome nws tau ua raws li cov yam ntxwv tau nthuav qhia los ntawm cov menyuam yaus thiab cov kev kuaj mob neuroimaging, xws li sib nqus resonance lossis electroencephalogram, uas tso cai rau kev txheeb xyuas cov teeb meem hauv lub hlwb.

Kev Kho Mob ntawm Aicardi Syndrome

Kev kho mob ntawm Aicardi Syndrome tsis kho tus kab mob, tab sis nws pab txo cov tsos mob thiab txhim kho cov neeg mob lub neej.

Txhawm rau kho mob chua leeg nws raug nquahu kom noj cov tshuaj anticonvulsant, xws li carbamazepine lossis valproate. Neurological physiotherapy lossis psychomotor stimulation tuaj yeem pab txhawm rau txhim kho qaug dab peg.

Feem ntau ntawm cov neeg mob, txawm tias tau txais kev kho mob, kev ploj tuag ua ntej lub hnub nyoog ntawm 6 xyoo, feem ntau vim yog mob ntsws ua pa. Ciaj sia nyob dhau 18 xyoo yog muaj tsawg kawg ntawm tus kab mob no.

Cov kev sib txuas tseem ceeb:

  • Apert Cov Mob
  • Mob sab hnub poob
  • Cov mob alport

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