ImpiloIzifo nemibandela

Aicardi syndrome: incazelo, uphethwe, ukwanda.

Aicardi Syndrome - ezingavamile esiwufuzo, esizibonakalisa ukungabi khona the Corpus callosum, zesifo sokuwa kanye nezinguquko kule fundus. Ngaphezu kwalokho, iziguli ziye imisiwe ukuthuthukiswa engqondweni nasemzimbeni kanye nokwephula isakhiwo amathambo ebusweni Yekhanda.

indaba

Eminyakeni 60 udokotela wezinzwa ongumFulentshi wekhulu lamashumi amabili Zhan Aykardi echazwe inqwaba amacala lesi sifo. Kukhona izinkomba ngaphambili kubo izincwadi zezokwelapha ezisekelwe ekwazisweni, kodwa ke kwakubhekiselwa kubo ngokuthi ukubonakaliswa ukutheleleka azalwa nako. Eminyakeni eyisikhombisa ngemuva kokushicilelwa lokuqala abezokwelapha usanda kwethula lento iyunithi entsha nosological - Aicardi syndrome.

Kodwa ukutadisha isifo uye waqhubeka, inani izimpawu, futhi wanda, kwavulwa amagatsha amasha sekukhona. Ngokwesibonelo, Aicardi-Hauterivian syndrome obubonisa encephalopathy ne-basal ganglia calcification futhi leukodystrophy.

nokudlanga

Kusukela ukuqashelwa olusemthethweni Aicardi syndrome neurologists yayo wahlangana izikhathi mayelana anamakhulu mahlanu. Iziguli eziningi wahlala eJapane nakwamanye amazwe ase-Asia. Ngokwabacwaningi Swiss, tigameko isifo - amakesi izingane ayizinkulungwane ezingamakhulu 15. Ngeshwa, izibalo kungenzeka ukubukela phansi ngokwezinga sokupha, njengoba iningi iziguli uhlala yayingaziwa nhlobo.

Lesi sifo eba amantombazane. Futhi odokotela bakholelwa ukuthi kuyinto imbangela Ezimweni eziningi kokulibala yentuthuko psycho-bokuphila zibe kwezinsana.

zofuzo

Aicardi syndrome - isifo ubulili-exhumene, isakhi sofuzo engaphelele itholakala-X chromosome. Bhalisiwe izimo ezintathu lapho abafana nge Klinefelter syndrome zinenkinga nezimpawu ezifanayo. Ukuze abantwana besilisa nge genotype evamile XY isifo liyabulala.

Zonke amacala ukubukeka kwalesi sifo kukhona ngenxa yezinguquko oqabukelayo. Okusho ukuthi, ngaphambi proband umndeni alutholakalanga amacala Aicardi syndrome. Ukudluliselwa isakhi sofuzo esinephutha kusuka kumama kuya indodakazi akunakwenzeka. Ubungozi ukuthi ingane yesibili ozozalwa nalesi sifo lincane kakhulu futhi angaphansi kwelilodwa.

Uma sisebenzisa imithetho Mendel, ukuthi lo mbhangqwana usuvele unayo enye yamadodana nalesi sifo, unayo ongakhetha elandelayo:

  • umfana sebeshonile;
  • intombazane enempilo (33%);
  • umfana enempilo (33%);
  • intombazane ogulayo (33%).

Izimbangela zesifo okwamanje, ucwaningo kuyinto eqhubekayo.

anatomy okukhwantabalisayo

Ososayensi nodokotela ukusebenzisa izindlela ezahlukene ukusetha Aicardi Syndrome. Isithombe ngu-ubuchopho-magnetic resonance imaging - omunye okuvame kakhulu, kodwa cabanga wonke picture kungenzeka kuphela kwesidumbu. Phakathi nesifundo zobuchopho kungathola kwezinso multiple of kwemizwa ukuthuthukiswa tube:

  • ukungabi okuphelele noma okuyingxenye ye callosum Corpus;
  • ukushintsha kule sikhundla we- cortex cerebral;
  • isikhundla okungavamile convolutions;
  • izinhlumba ngokuqukethwe serous.

luhlolo ezincane lembula ukushayisana isakhiwo cell babephephile ezindaweni ezithintekile. Esikhathini fundus futhi alethe izinguquko isici ezifana thinning ijwabu, wanciphisa inani imithambo yegazi kanye lesi sakhi, kodwa Izigaxa ukukhula nama-rod.

umtholampilo

Ungabheka kanjani izingane Aicardi syndrome? Izimpawu yilezi ungacacisi ngokwanele ekuqaleni, ngoba izingane ezizalelwe eside, lwesitho sangasese sowesifazane kanye ubukeke uphila saka. Ukufika ezinyangeni ezintathu ezisanda ukuthuthukisa akukho izimpawu zokwelashwa, bese kukhona nokuquleka. Tiniketwe ngesimo retropulsivnyh serial lesinesitfombe-sibuko zibe clonic-tonic yezingalo nemilenze. Ezimweni eziningi lokhu namanje ujoyine kwezinsana imisipha zibe flexor. Ezimweni ezingavamile, lesi sifo kwenzeka okokuqala lwenyanga yokuqala yokuphila. zesifo sokuwa kungukuthi ukunqampunwa imithi.

Ngo isimo zezinzwa zezingane ezinjalo, ukwehla of skull osayizi, encishisiwe imisipha ithoni, kepha kungaba yinkomba eyodwa emaceleni ikhaliphe disinhibition noma, Ngakolunye uhlangothi, paresis kanye nokukhubazeka. Ngaphezu kwalokho, ingxenye iziguli kwezinso lwamathambo: agenesis noma ukungabi khona izimbambo vertebral. Lokhu kuholela ezinzima ukugobeka komhlandla ukuma izinguquko.

ukuhlola

Okwamanje, azikho ukuhlolwa elithembekile elingasiza ukuhlonza Aicardi syndrome. Kokubeletha uphethwe zofuzo esiteji akunakwenzeka, njengoba isakhi sofuzo esiyimbangela yalesi ukuthuthukiswa kwalesi sifo ayikahlanganiswa kwembulwe.

Neurologist angaqoka yokutadisha eyokwenza ukukhomba izimpawu ezithile. Lezi zihlanganisa:

  • ukuhlolwa;
  • ophthalmoscopy;
  • electroencephalography;
  • Magnetic resonance imaging,
  • X-ray sokukhubazeka komgogodla.

Lokhu kukuvumela ukuthola engekho callosum Corpus futhi ekuhlephuleni wesimethri we ama- cerebral, khona izinhlumba.

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