Aicardi syndrome

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.