Aicardi syndrome
![Rachel’s Life with Aicardi Syndrome](https://i.ytimg.com/vi/PgbuzEtQ3KA/hqdefault.jpg)
Aicardi syndrome o se le masani ai faʻamaʻi. I lenei tulaga, o le fausaga e fesoʻotaʻi itu uma e lua o le faiʻai (taʻua o le corpus callosum) o se vaega pe leai atoa foi. Toetoe lava iloa uma mataupu tupu i tagata e leai se talaʻaga o le faʻamaʻi i totonu o latou aiga (sporadic).
O le mafuaʻaga o le Aicardi syndrome e le o iloa i le taimi nei. I nisi tulaga, talitonu tagata atamamai atonu o se iʻuga o le gaʻoa o le gen i le X chromosome.
O le faʻamaʻi e naʻo teine.
Faʻailoga e masani ona amata pe a o le tamaititi i le va o tausaga 3 ma 5 masina. O le tulaga mafua ai jerking (tamaiti laiti spasms), o se ituaiga o tamaitiiti faoa faamalosi.
Aicardi syndrome mafai ona tupu ma isi faaletonu faiai.
O isi faʻailoga e mafai ona aofia ai:
- Coloboma (mata o pusi)
- Le atoatoa le malosi o le mafaufau
- Laʻititi-nai lo-masani mata (microphthalmia)
Tamaiti ua maua i le Aicardi syndrome pe a latou ausia tulaga nei:
- Corpus callosum o se vaega pe o le atoa leiloa
- Feusuaiga fafine
- Faoa faamalosi (e masani ona amata o tamameamea spasms)
- Maʻi i luga o le retina (retinal lesions) poʻo optic neula
I tulaga seasea tupu, o se tasi o nei foliga ono misi (aemaise lava le leai o se atinaʻe o le corpus callosum).
Suʻega e faʻamaonia ai le Aicardi syndrome aofia ai:
- CT scan o le ulu
- EEG
- Suʻega o mata
- MRI
O isi auala ma suʻega e mafai ona faia, faʻamoemoe i le tagata.
Togafitiga e faia e fesoasoani ai e puipuia faʻailoga. E aofia ai le faʻatautaia o faʻafilemu ma isi lava faʻalavelave tau le soifua maloloina. O togafitiga e faʻaaoga ai polokalame e fesoasoani ai i le aiga ma le tamaititi e feagai ai ma le tuai ona atinaʻe.
Aicardi Syndrome Foundation - ouraicardilife.org
National Organization for Rare Disorder (NORD) - rarediseases.org
O le vaʻaiga e faʻamoemoe i le ogaoga o faʻailoga ma o a isi tulaga o le soifua maloloina o loʻo i ai.
Toetoe lava uma tamaiti i lenei faʻamaʻi faigata faigata aʻoaʻoga ma tumau tumau faʻalagolago i isi. Peitaʻi, e toʻaitiiti e iai ni agavaʻa i le gagana ma ni isi e mafai ona savali naʻo latou pe iai le lagolago. E vaʻaia le vaʻai mai le masani i le tauaso.
Faʻalavelave e faʻamoemoe i le ogaoga o faʻailoga.
Valaʻau lau fomaʻi pe a fai o loʻo maua i lou alo faʻailoga o le Aicardi syndrome. Saili se faʻalavelave faʻafuaseʻi pe a fai o le pepe ua maua i le maʻi poʻo se faʻapoʻeina.
Agenesis o corpus callosum ma chorioretinal faʻaletonu; Agenesis o le corpus callosum ma tamaʻi tamaʻi ma le masani ai vaʻaia; Callosal agenesis ma vaʻaia masani ai; Chorioretinal anomalies ma le ACC
Corpus callosum o le faiʻai
'Upega tafaʻilagi a le American Academy of Ophthalmology. Aicardi syndrome. www.aao.org/pediatric-center-detail/neuro-ophthalmology-aicardi-syndrome. Faʻafou Setema 2, 2020. Avanoa ia Setema 5, 2020.
Kinsman SL, Johnston MV. Faʻasolosolo faʻasolosolo ole laʻau o neula. I le: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Tusitusiga o Pediatrics. 21 ed. Filatelefia, PA: Elsevier; 2020: chap 609.
Samat HB, Flores-Samat L. Faʻaletonu le atinaʻe o le neula. I totonu: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology i Fomaʻi Faʻataʻitaʻi. 7th ed. Filatelefia, PA: Elsevier; 2016: mataʻupu 89.
US National Library of Medicine 'upega tafaʻilagi. Aicardi syndrome. ghr.nlm.nih.gov/condition/aicardi-syndrome. Faʻafouina Aukuso 18, 2020. Avanoa ia Setema 5, 2020.