Isifo se-Aicardi

I-Aicardi syndrome yisifo esingajwayelekile. Kulesi simo, isakhiwo esixhuma izinhlangothi zombili zobuchopho (esibizwa ngokuthi i-corpus callosum) ngokwengxenye noma asikho ngokuphelele. Cishe wonke amacala aziwayo avela kubantu abangenawo umlando wokuphazamiseka emindenini yabo (okungajwayelekile).

Imbangela ye-Aicardi syndrome ayaziwa ngalesi sikhathi. Kwezinye izimo, ochwepheshe bakholelwa ukuthi kungaba umphumela wesici sofuzo ku-X chromosome.

Lesi sifo sithinta amantombazane kuphela.

Izimpawu zivame ukuqala lapho ingane iphakathi kweminyaka engu-3 nengu-5 yobudala. Isimo sibangela ukuqhuma (izinsana), uhlobo lokubanjwa kwengane.

I-Aicardi syndrome ingenzeka nokunye ukukhubazeka kobuchopho.

Ezinye izimpawu zingafaka:

• IColoboma (iso lekati)
• Ukukhubazeka kwengqondo
• Amehlo amancane kunokujwayelekile (microphthalmia)

Izingane zitholwa zine-Aicardi syndrome uma zihlangabezana nalezi zindlela ezilandelayo:

• ICorpus callosum elahlekile ngokwengxenye noma ngokuphelele
• Ubulili besifazane
• Ukuquleka (imvamisa kuqala njengokuphazamiseka kwezinsana)
• Izilonda ku-retina (izilonda ze-retinal) noma i-optic nerve

Ezimweni ezingavamile, enye yalezi zici ingahle ingekho (ikakhulukazi ukuntuleka kokuthuthukiswa kwe-corpus callosum).

Ukuhlolwa kokuthola i-Aicardi syndrome kufaka:

• I-CT scan yekhanda
• I-EEG
• Ukuhlolwa kwamehlo
• I-MRI

Ezinye izinqubo nokuhlolwa kungenziwa, kuya ngomuntu.

Ukwelashwa kwenziwa ukusiza ukuvimbela izimpawu. Kubandakanya ukuphatha ukuquleka nokunye ukukhathazeka ngempilo. Ukwelashwa kusebenzisa izinhlelo ukusiza umndeni nengane ukubhekana nokubambezeleka kokukhula.

I-Aicardi Syndrome Foundation - ouraicardilife.org

Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile (NORD) - rarediseases.org

Umbono uncike ekutheni zinzima kangakanani izimpawu nokuthi yiziphi ezinye izimo zezempilo ezikhona.

Cishe zonke izingane ezinalesi sifo zinobunzima obukhulu bokufunda futhi zihlala zincike ngokuphelele kwabanye. Kodwa-ke, bambalwa abanamakhono athile olimi futhi abanye bangakwazi ukuzihambela noma ngokuxhaswa. Umbono uyehluka kuye ngokwokwejwayelekile.

Izinkinga zincike ebukhulwini bezimpawu.

Shayela umhlinzeki wakho wezokunakekelwa kwezempilo uma ingane yakho inezimpawu ze-Aicardi syndrome. Funa ukunakekelwa okuphuthumayo uma usana luba nokugula noma ukuquleka.

I-Agenesis ye-corpus callosum enokungajwayelekile kwe-chorioretinal; I-Agenesis ye-corpus callosum enezinhlungu zezinsana kanye nokungajwayelekile kwe-ocular; I-Callosal agenesis nokungajwayelekile kwe-ocular; Okudidayo kwe-Chorioretinal ne-ACC

• ICorpus callosum yobuchopho

Iwebhusayithi yeAmerican Academy of Ophthalmology. Isifo se-Aicardi. www.aao.org/pediatric-center-detail/neuro-ophthalmology-aicardi-syndrome. Kubuyekezwe uSepthemba 2, 2020. Kufinyelelwe kuSepthemba 5, 2020.

UKinsman SL, uJohnston MV. Okuzenzakalelayo kokuzalwa kwesistimu yezinzwa emaphakathi. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 609.

I-Samat HB, i-Flores-Samat L. Izinkinga zokuthuthuka zesistimu yezinzwa. Ku: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, ama-eds. I-Neurology kaBradley ekwenziweni kwemitholampilo. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2016: isahluko 89.

Iwebhusayithi yase-US National Library of Medicine. Isifo se-Aicardi. ghr.nlm.nih.gov/condition/aicardi-syndrome. Kubuyekezwe u-Agasti 18, 2020. Kufinyelelwe kuSepthemba 5, 2020.