I-Aicardi syndrome

-Delile

• Izimpawu ze-Aicardi Syndrome
• Ukwelashwa kwe-Aicardi Syndrome
• Izixhumanisi eziwusizo:

I-Aicardi Syndrome yisifo esingajwayelekile sofuzo esibonakala ngokungabi khona ngokwengxenye noma okuphelele kwe-corpus callosum, ingxenye ebalulekile yobuchopho eyenza ukuxhumana phakathi kwama-hemispheres amabili obuchopho, ukudlikizela nezinkinga ku-retina.

THE imbangela ye-Aicardi Syndrome kuhlobene nokushintshwa kwezakhi zofuzo kwi-X chromosome ngakho-ke, lesi sifo sithinta kakhulu abesifazane. Emadodeni, lesi sifo singavela ezigulini ezineKlinefelter Syndrome ngoba zine-X chromosome eyengeziwe, engadala ukufa ezinyangeni zokuqala zempilo.

I-Aicardi Syndrome ayinakhambi futhi isikhathi sokuphila siyancishiswa, nezimo lapho iziguli zingafinyeleli ebusheni.

Izimpawu ze-Aicardi Syndrome

Izimpawu ze-Aicardi Syndrome zingaba:

• Ukudlikizela;
• Ukuwohloka kwengqondo;
• Ukubambezeleka ekuthuthukisweni kwezimoto;
• Izilonda ku-retina yeso;
• Ukukhubazeka komgogodla, njenge: spina bifida, i-vertebrae ehlanganisiwe noma i-scoliosis;
• Ubunzima ekuxhumaneni;
• I-Microphthalmia ebangelwa usayizi omncane weso noma ukungabikho.

Ukuquleka ezinganeni ezinalesi sifo kubonakaliswa ukuphambana kwemisipha okusheshayo, nge-hyperextension yekhanda, ukujija noma ukunweba kwesiqu nezingalo, okwenzeka kaningana ngosuku kusukela onyakeni wokuqala wokuphila.

O ukuxilongwa kwe-Aicardi Syndrome kwenziwa ngokuya ngezimpawu ezethulwe yizingane kanye nezivivinyo ze-neuroimaging, njenge-magnetic resonance noma i-electroencephalogram, evumela ukukhonjwa kwezinkinga ebuchosheni.

Ukwelashwa kwe-Aicardi Syndrome

Ukwelashwa kwe-Aicardi Syndrome akuselaphi lesi sifo, kepha kuyasiza ekwehliseni izimpawu nokuthuthukisa izinga lempilo yeziguli.

Ukwelapha ukuquleka kunconywa ukuthi uthathe imishanguzo ye-anticonvulsant, efana ne-carbamazepine noma i-valproate. I-neurological physiotherapy noma i-psychomotor stimulation ingasiza ekwenzeni ngcono ukuquleka.

Iningi leziguli, noma zelashwa, zigcina zife ngaphambi kweminyaka yobudala engama-6, imvamisa ngenxa yezinkinga zokuphefumula. Ukusinda eminyakeni engaphezu kwengu-18 akuvamile kulesi sifo.

Izixhumanisi eziwusizo:

• I-Apert syndrome
• I-West syndrome
• I-Alport syndrome