Matenda a Aicardi

Zamkati

• Zizindikiro za Aicardi Syndrome
• Kuchiza kwa Aicardi Syndrome
• Maulalo othandiza:

Aicardi Syndrome ndi matenda osowa omwe amabwera chifukwa cha kuchepa kwa corpus callosum, gawo lofunika kwambiri muubongo lomwe limalumikiza kulumikizana kwa ma hemispheres awiriwa, khunyu ndi zovuta mu diso.

THE chifukwa cha Aicardi Syndrome imakhudzana ndi kusintha kwa majini pa X chromosome motero, matendawa amakhudza kwambiri azimayi. Mwa amuna, matendawa amatha kubwera kwa odwala omwe ali ndi Klinefelter Syndrome chifukwa ali ndi X chromosome yowonjezera, yomwe imatha kubweretsa imfa m'miyezi yoyambirira ya moyo.

Aicardi Syndrome ilibe mankhwala ndipo chiyembekezo chokhala ndi moyo chimachepa, pomwe odwala satha msinkhu.

Zizindikiro za Aicardi Syndrome

Zizindikiro za Aicardi Syndrome zitha kukhala:

• Kupweteka;
• Kufooka kwa malingaliro;
• Kuchedwa pa chitukuko chamoto;
• Zilonda mu diso la diso;
• Kusokonekera kwa msana, monga: msana bifida, mafinya ophatikizika kapena scoliosis;
• Zovuta pakulankhulana;
• Microphthalmia yomwe imabwera chifukwa cha kukula kwa diso kapena kusapezeka.

Khunyu kwa ana omwe ali ndi matendawa amadziwika ndi kutupikana kofulumira kwa minofu, ndikutentheka kwa mutu, kupindika kapena kutambasula thunthu ndi mikono, zomwe zimachitika kangapo patsiku kuyambira chaka choyamba cha moyo.

O kuzindikira kwa Aicardi Syndrome zimachitika molingana ndi zomwe ana amapereka ndi mayeso a neuroimaging, monga maginito omveka kapena electroencephalogram, omwe amalola kuzindikira mavuto muubongo.

Kuchiza kwa Aicardi Syndrome

Kuchiza kwa Aicardi Syndrome sikuchiza matendawa, koma kumathandiza kuchepetsa zizindikilo ndikusintha moyo wa odwala.

Pofuna kuchiza khunyu ndikulimbikitsidwa kuti mutenge mankhwala a anticonvulsant, monga carbamazepine kapena valproate. Neurological physiotherapy kapena psychomotor kukondoweza kumathandizira kukonza kugwa.

Odwala ambiri, ngakhale atalandira chithandizo, amatha kufa asanakwanitse zaka 6, nthawi zambiri chifukwa cha zovuta zamapuma. Kupulumuka zaka zoposa 18 ndikosowa mu matendawa.

Maulalo othandiza:

• Matenda a Apert
• Matenda akumadzulo
• Matenda a Alport