Sturge-Weber syndrome

Sturge-Weber syndrome (SWS) o se faʻamaʻi seasea maua mai i le taimi na fanau ai. O se tamaititi e maua i lenei maʻi o le a iai se faailoga fanau i le uaina-uaina (masani i luga o ou foliga) ma ono i ai ni faʻafitauli i le tino.

I le tele o tagata, o le mafuaʻaga o Sturge-Weber e mafua mai i le suia o le GNAQ gafa Lenei keni aafia ai tamaʻi toto toto valaʻauina capillaries. Faʻafitauli i capillaries mafua ai le port-uaina stains e fausiaina.

Sturge-Weber e le manatu e pasi i lalo (tofi) e ala i aiga.

Faʻailoga o le SWS aofia ai:

• Port-uaina pisia (sili atu taatele i luga luga foliga ma mata-tapuni nai lo le totoe o le tino)
• Faoa faamalosi
• Tigā ulu
• Supa poʻo vaivaiga i le tasi itu
• Aʻoaʻoga le atoatoa
• Glaucoma (maualuga tele faʻatosina vai i mata)
• Maualalo thyroid (hypothyroidism)

Glaucoma atonu o se tasi faʻailoga o le tulaga.

O suʻega e mafai ona aofia ai:

• CT faʻasolosolo
• MRI faʻasolosolo
• X-ray

Togafitiga e faʻavae i luga o faʻailoga a le tagata ma faʻailoga, ma ono aofia ai:

• Anticonvulsant vailaʻau mo faoa faamalosi
• Faʻapaʻu mata poʻo taotoga e togafitia ai le glaucoma
• Leisa togafitiga mo uafu-uaina stains
• Tino togafitiga mo supa poʻo vaivaiga
• Mafai faia taotoga faiai e puipuia faoa

O mea o loʻo sosoʻo atu e mafai ona maua ai nisi faʻamatalaga ile SWS:

• Le Sturge-Weber Foundation - sturge-weber.org
• National Organization for Rare Disorder - rarediseases.org/rare-diseases/sturge-weber-syndrome/#supporting-organizations
• NIH / NLM Genetics Fale Faʻasino Mataupu - ghr.nlm.nih.gov/condition/sturge-weber-syndrome

SWS e masani ona le lamatia le ola. E manaʻomia e le tuutuuga le siakiina o le olaga atoa. Ole lelei ole olaga ole tagata e faʻamoemoe ile lelei e mafai ona puipuia pe togafitia ai a latou faʻailoga (pei ole faoa).

Ole tagata e manaʻomia le asiasi ile fomaʻi mata (ophthalmologist) a itiiti mai e tasi ile tausaga e togafitia ai le glaucoma. Latou te manaʻomia foʻi ona vaʻai i se fomaʻi o neura e togafitia faʻatafunaina ma isi faʻamaʻi o neula.

O nei faʻalavelave e mafai ona tupu:

• E le masani ai le tupu o le toto i le ulu
• Faʻaauau pea le tuputupu aʻe o le uafu uafu
• Tolo atinae
• Faʻafitauli tau lagona ma amioga
• Glaucoma, lea e ono tau atu ai i le tauaso
• Supa
• Faoa faamalosi

E tatau i le tausi soifua maloloina ona siaki uma igoa fanau, e aofia ai le uaina-uaina pisipisia. Faoa faʻamalosi, faʻafitauli tau vaʻai, supa, ma suiga i le mataala poʻo le mafaufau tulaga atonu o lona uiga o le ufiufi o le faiʻai o loʻo aafia. O nei faʻailoga e tatau ona iloiloina loa.

E leai se iloa puipuia.

Encephalotrigeminal angiomatosis; SWS

• Sturge-Weber syndrome - alofivae o vae
• Sturge-Weber syndrome - vae
• Le uaina uafu i luga o foliga o se tamaititi

Flemming KD, Brown RD. Epidemiology ma tala faʻasolopito o intracranial vascular malformations. I le: Winn HR, ed. Youmans ma Winn Neurological taotoga. 7th ed. Filatelefia, PA: Elsevier; 2017: chap 401.

Maguiness SM, Garzon MC. Malformations vascular. I: Eichenfield LF, Frieden IJ, Mathes EF, Zaenglein AL, eds. Fomai pepe ma pepe Fanau. 3rd ed. Filatelefaia, PA: Elsevier Saunders; 2015: mata 22.

Sahin M, Ullrich N, Srivastava S, Pinto A. Neurocutaneous syndromes. 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: mata 614.