Isifo seAicardi

Umxholo

• Iimpawu zeAicardi Syndrome
• Unyango lweAicardi Syndrome
• Amakhonkco aluncedo:

I-Aicardi Syndrome sisifo esinqabileyo semfuza esibonakaliswa kukungabikho ngokupheleleyo okanye ukungabikho ngokupheleleyo kwe-corpus callosum, icandelo elibalulekileyo lobuchopho elenza unxibelelwano phakathi kwezi hemispheres zimbini ze-cerebral, ukuxhuzula kunye neengxaki kwi-retina.

THE Unobangela weAicardi Syndrome inxulumene notshintsho kwimfuza kwi-X chromosome kwaye, ke, esi sifo ikakhulu sichaphazela abasetyhini. Emadodeni, esi sifo sinokuvela kwizigulana ezine-Klinefelter Syndrome kuba zine-X chromosome eyongezelelweyo, enokubangela ukusweleka kwiinyanga zokuqala zobomi.

I-Aicardi Syndrome ayinanyango kwaye ixesha lokuphila liyancitshiswa, kunye neemeko apho abaguli bengafikeleli ebusheni.

Iimpawu zeAicardi Syndrome

Iimpawu ze-Aicardi Syndrome zinokuba:

• Ukuxhuzula;
• Ukudodobala kwengqondo;
• Ukulibaziseka kuphuhliso lweemoto;
• Izilonda kwi-retina yeso;
• Iimpazamo zomqolo, ezinje nge: spina bifida, fused vertebrae okanye scoliosis;
• Ubunzima ekunxibelelaneni;
• I-Microphthalmia ebangelwa bubungakanani obuncinci beliso okanye nokungabikho.

Ukuxhuzula kubantwana abanale syndrome kubonakaliswa ngokukhawuleza kwemisipha, kunye ne-hyperextension yentloko, ukujija okanye ukolulwa komboko kunye neengalo, ezenzeka izihlandlo ezininzi ngemini ukusukela kunyaka wokuqala wobomi.

O ukuxilongwa kweAicardi Syndrome yenziwa ngokweempawu eziboniswe ngabantwana kunye neemviwo ze-neuroimaging, ezinje nge-magnetic resonance okanye i-electroencephalogram, evumela ukubonwa kweengxaki kwingqondo.

Unyango lweAicardi Syndrome

Unyango lwe-Aicardi Syndrome asisinyangi isifo, kodwa luyanceda ukunciphisa iimpawu kunye nokuphucula umgangatho wobomi babaguli.

Ukunyanga ukuxhuzula kuyacetyiswa ukuba uthathe iziyobisi ze-anticonvulsant, ezinje nge-carbamazepine okanye i-valproate. I-neurological physiotherapy okanye i-psychomotor stimulation inokunceda ukuphucula ukuxhuzula.

Uninzi lwezigulana, kwanonyango, luphela lusweleka ngaphambi kweminyaka eyi-6, ngesiqhelo ngenxa yeengxaki zokuphefumla. Ukusinda ngaphezulu kweminyaka eli-18 kunqabile kwesi sifo.

Amakhonkco aluncedo:

• Isifo se-Apert
• Isifo sentshona
• Isifo seAlport