Neuronal cofid lipofuscinoses (NCL)

Neuronal ceroid lipofuscinoses (NCL) e faʻatatau i se vaega o le seasea faʻaletonu o neula sela. NCL e pasi i lalo i aiga (tofi).

Nei o autu autu e tolu o NCL:

• Tagata matua (Kufs poʻo Parry faʻamaʻi)
• Tamaiti (Batten faamaʻi)
• Pepe ole tamaititi (Jansky-Bielschowsky faʻamaʻi)

NCL aofia ai le fausiaina o se mea le masani ai e taʻua o le lipofuscin i le faiʻai. NCL e manatu e mafua mai i faʻafitauli ma le faiʻai le mafai e aveʻese ma toe gaosia polotini.

Lipofuscinoses e faʻasolo mai o ni uiga taʻutaʻua o le autosomal. O lona uiga pasi uma matua luga o le le galueaina kopi o le kenera mo le tamaititi e atiaʻe le tulaga.

E naʻo le tasi le subtype matutua a le NCL e fai ma tofi autosomal.

Faʻailoga o le NCL aofia ai:

• Faʻateleina maso faʻateleina maso poʻo spasm
• Tauaso poʻo faʻafitauli vaʻai
• Faanoanoaga
• Le lava o soʻoga maso
• Le atoatoa le malosi o le mafaufau
• Faagaioiga le atoatoa
• Leiloa upu
  
• Faoa faamalosi
• Savali le tumau

O le maʻi ono mafai ona vaʻaia i le taimi na fanau mai ai, ae e masani ona maua faʻamaonia mulimuli ane i le taimi o laiti.

O suʻega e aofia ai:

• Autofluorescence (o se malamalama auala)
• EEG (fuaina eletise gaoioiga i le faiʻai)
• Electron microscopy o le paʻu o le tino
• Electroretinogram (o se faʻataʻitaʻiga mata)
• Suʻega ole gafa
• MRI poʻo le CT faʻataʻitaʻi o le faiʻai
• Fuafua biopsy

E leai se togafiti mo faʻamaʻi NCL. Togafitiga faalagolago i le ituaiga o NCL ma le tele o auga. E mafai e lau fomaʻi tausi soifua ona faʻatonuina maso malolo e faʻatonutonu le itaitagofie ma le faʻalavelave ile moe. E mafai foi ona faatonuina vailaʻau e taofi ai le faoa ma le popole. O se tagata ma NCL ono manaʻomia le fesoasoani mo le olaga atoa.

O faʻamatalaga nei e mafai ona maua mai ai nisi faʻamatalaga i luga o le NCL:

• Genetic and Rare Diseases Information Center - rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis
• Batten Disease Support and Research Association - bdsra.org

O le laʻititi o le tagata pe a aliaʻe le faʻamaʻi, o le sili atu le lamatiaga mo le atoatoa ma vave maliu. O i latou e vave amataina le faʻamaʻi mafai ona i ai ni faʻafitauli vaʻai e alualu i luma i le tauaso ma faʻafitauli ma le mafaufau gaioiga e sili atu le leaga. Afai o le faʻamaʻi amata i le muamua tausaga o le olaga, maliu i le tausaga 10 e ono.

Afai o le faʻamaʻi e tupu i le matua, o faʻailoga o le a sili atu le malu, e aunoa ma se vaʻaiga leiloa ma se masani ai olaga umi.

O nei faʻalavelave e mafai ona tupu:

• Vaʻai faʻaleagaina poʻo le tauaso (ma le amataga o amataga ituaiga o faʻamaʻi)
• Faʻaletonu mafaufau, amata mai le ogaoga atinae tolopo i le fanau mai i dementia mulimuli ane o le olaga
• Maʻaʻa maso (ona o faigata ogaoga ma neula e faʻatonutonu maso maso)

E mafai ona faʻalagolago atoa le tagata i isi mo fesoasoani i gaioiga i aso uma.

Valaʻau lau tautua pe a fai o loʻo faʻaalia e lou alo faʻailoga o le tauaso poʻo le le atoatoa lelei o le mafaufau.

E fautuaina le faufautua ole kenera pe a fai o loʻo iai se talaʻaga lauiloa ole NCL a lou aiga. Prenatal tofotofoga, poʻo se suʻega taʻua o le preimplantation genetic diagnosis (PGD), ono avanoa, faʻalagolago i le ituaiga faʻapitoa o faʻamaʻi. I le PGD, o le embryo e faʻataʻitaʻia mo ni faʻaletonu ae le i totogia i le manava o le fafine.

Lipofuscinoses; Maʻi faʻamaʻa; Jansky-Bielschowsky; Faamaʻi Kufs; Spielmeyer-Vogt; Faamaʻi Haltia-Santavuori; Hagberg-Santavuori faamaʻi

Elitt CM, Volpe JJ. Faʻaletonu faʻafitauli o le pepe fou. I: Volpe JJ, Inder TE, Darras BT, et al, eds. Volpe's Neurology o le Fanau Fou. 6th ed. Filatelefia, PA: Elsevier; 2018: mata 29.

Glykys J, Sims KB. O le neuronal ceroid lipofuscinosis faʻaletonu. I le: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Mataupu Faavae ma Faʻataʻitaʻiga. 6th ed. Elsevier; 2017: mata 48.

Grabowski GA, Burrow AT, Leslie ND, Prada CE. Lysosomal faʻamaʻi faʻamaʻi. I: Orkin SH, Fisher DE, Ginsburg D, Vaʻai AT, Lux SE, Nathan DG, eds. Nathan and Oski's Hematology ma Oncology o Tamaititi ma Tamaititi. 8th ed. Filatelefaia, PA: Elsevier Saunders; 2015: mata 25.