Isifo seAicardi

I-Aicardi syndrome sisifo esinqabileyo. Kule meko, ubume obudibanisa amacala amabini obuchopho (obizwa ngokuba yi-corpus callosum) ngokuyinxenye okanye abulahlekanga kwaphela. Phantse zonke iimeko ezaziwayo zenzeka kubantu abangenayo imbali yokuphazamiseka kwiintsapho zabo (manqaphanqapha).

Unobangela weAicardi syndrome awaziwa ngeli xesha. Ngamanye amaxesha, iingcali zikholelwa ekubeni kunokuba sisiphumo sesiphene semfuza kwi-X chromosome.

Esi sifo sichaphazela amantombazana kuphela.

Iimpawu zihlala ziqala xa umntwana ephakathi kweminyaka emi-3 ukuya kwezi-5 ubudala. Imeko ibangela i-jerking (spasms yeentsana), uhlobo lokubanjwa kwabantwana.

Isifo seAicardi sinokubakho nezinye iziphene zobuchopho.

Ezinye iimpawu zingabandakanya:

• IColoboma (iliso lekati)
• Ukukhubazeka kwengqondo
• Amehlo amancinci kunokuba aqhelekileyo (microphthalmia)

Abantwana bachongwa ukuba bane-Aicardi syndrome ukuba bayazifezekisa ezi ndlela zilandelayo:

• ICorpus callosum elahlekileyo ngokuyinxenye okanye engekhoyo kwaphela
• Isini sabasetyhini
• Ukuxhuzula (ukuqala ngokuqala njengokuqaqanjelwa lusana)
• Izilonda kwi-retina (izilonda ze-retinal) okanye i-optic nerve

Kwiimeko ezinqabileyo, enye yezi zinto zinokulahleka (ngakumbi ukungabikho kophuhliso lwecorpus callosum).

Uvavanyo lokufumanisa isifo se-Aicardi lubandakanya:

• Ukuvavanywa kwentloko kwe-CT
• I-EEG
• Uvavanyo lwamehlo
• IMRI

Ezinye iinkqubo kunye novavanyo lunokwenziwa, kuxhomekeke emntwini.

Unyango lwenziwe ukukhusela iimpawu. Kubandakanya ukulawula ukubanjwa kunye nezinye izinto ezixhalabisa impilo. Unyango lusebenzisa iinkqubo ukunceda usapho kunye nomntwana ukumelana nokulibaziseka kophuhliso.

Isiseko seAicardi Syndrome-ouraicardilife.org

Umbutho weSizwe weengxaki zoRare (NORD) -rarediseases.org

Imbonakalo ixhomekeke ekubeni zinzima kangakanani iimpawu kwaye zeziphi ezinye iimeko zempilo ezikhoyo.

Phantse bonke abantwana abanesi sifo banobunzima ekufundeni kwaye bahlala bexhomekeke ngokupheleleyo kwabanye. Nangona kunjalo, bambalwa abanesakhono solwimi kwaye abanye banokuhamba ngokwabo okanye ngenkxaso. Umbono uyohluka ukusuka kwinto eqhelekileyo ukuya kweyemfama.

Iingxaki zixhomekeke kubukhali beempawu.

Fowunela umboneleli wakho wezempilo ukuba umntwana wakho uneempawu zesifo iAicardi. Funa ukhathalelo olungxamisekileyo ukuba usana lune-spasms okanye ukuxhuzula.

I-Agenesis ye-corpus callosum enokungaqhelekanga kwe-chorioretinal; I-Agenesis ye-corpus callosum ene-spasms yeentsana kunye nokungaqhelekanga kwe-ocular; I-callosal agenesis kunye nokungaqhelekanga kwe-ocular; Ukungahambi kakuhle kweChorioretinal kunye ne-ACC

• ICorpus callosum yengqondo

Iwebhusayithi yaseAmerican Academy yeOphthalmology. Isifo seAicardi. www.aao.org/pediatric-center-detail/neuro-ophthalmology-aicardi-syndrome. Ukuhlaziywa kweSeptemba 2, 2020. Ifikeleleke ngoSeptemba 5, 2020.

Isalamane SL, uJohnston MV. Ukungafani okuzalwa kwenkqubo ye-nervous system. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 609.

I-Samat HB, i-Flores-Samat L.Ukuphazamiseka kwenkqubo yovalo. Ku: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, ii-eds. I-Neurology kaBradley kwiKlinikhi yokuziqhelanisa. Umhla wesi-7. IPhiladelphia, PA: Elsevier; Ngo-2016: isahluko 89.

Ithala leencwadi leSizwe laseMelika lezeMpilo. Isifo seAicardi. ghr.nlm.nih.gov/condition/aicardi-syndrome. Ukuhlaziywa kwe-18 ka-Agasti ka-2020. Ifikeleleke ngoSeptemba 5, 2020.