Aicardi chirwere: tsananguro, chirwere, kuwanda.

Aicardi Syndrome - isingawanzowanikwi nhaka chirwere, iyo inoratidza kusavapo ari corpus callosum, zvipusha pfari uye kuchinja fundus. Uyezve, varwere vave kunonoka mupfungwa uye mumuviri kukura uye kutyorwa sechivako mapfupa chiso pamusoro dehenya.

nyaya

Mumakore 60 rechiFrench wetsinga rechimakumi maviri remakore Zhan Aykardi akatsanangura dzakawanda dzenyaya chirwere ichi. Pane vamba anotaura kwavari mabhuku ezvokurapa, asi zvino vakanga vachinzi kuratidzwa vachiberekwa noutachiona. Makore manomwe pashure pokunge bhuku zvokurapa wokutanga vakasuma idzva nosological chikwata - Aicardi syndrome.

Asi kudzidza chirwere raramba, nhamba zviratidzo, uye kunyange rakawedzerwa, mapazi matsva ranyuka. Somuenzaniso, Aicardi-Hauterivian chirwere hunoratidza encephalopathy pamwe basal ganglia calcification uye leukodystrophy.

Kupararira

Sezvo kwayo pamutemo Aicardi chirwere neurologists vakasangana anenge mazana mashanu nguva. Varwere vakawanda vaigara Japan nedzimwe nyika Asian. Maererano nevaongorori Swiss, kuitika chirwere - 15 nyaya por zviuru zana vana. Zvinosuruvarisa, nhamba zvichida kurerutsa pamwero yokupa, sezvo vakawanda varwere anoramba unexplored.

Hosha ikabuda vasikana. Uye vanachiremba vanodavira kuti ndiyo mhaka zvikuru zviitiko kunonoka kuti psycho-vasiri kukura uye infantile kurwadza kwacho.

genetics

Aicardi chirwere - chirwere zvepabonde chokuita, asi chakaremara Gene iri pamusoro X chromosome. Vakanyorwa nyaya nhatu umo vakomana pamwe Klinefelter chirwere vane zviratidzo zvakafanana. Nokuti varume vana zvisingatomboiti genotype xy chirwere rakaipa.

All zviitiko nechitarisiko chirwere ichi dzinokonzerwa nguva dziri kure kunotouraya. Ndiko, pamberi mhuri proband haana kuwanikwa zviitiko Aicardi syndrome. Kuchinjwa ari chakaremara Gene kubva mai mwanasikana ungangova. Njodzi kuti mwana wechipiri achaberekwa nehosha iyi iduku kwazvo uye idukusa chimwe muzana.

Kana tikashandisa mirayiro Mendel, kuti vaviri kare mumwe mwanakomana nechirwere ichi, iwe une zvinotevera kuita:

• wakaberekwa mukomana;
• musikana utano (33%);
• mukomana utano (33%);
• musikana anorwara (33%).

Zvinokonzera chirwere vari pari isingazivikanwi, tsvakurudzo maitiro.

kukuvadzwa anatomi

Masayendisiti uye vanachiremba kushandisa nzira dzakasiyana-siyana kuti kumisa Aicardi Syndrome. Photo ne uropi rinobva resonance kuri - chimwe chezvinhu zvakafanana, asi kuti funga mufananidzo yose kunobvira chete panguva kuvhuya chitunha. Munguva kudzidza uropi anogona kuziva akawanda abnormalities pakati Neural chubhu kukura:

• kwakakwana kana rushoma pasina corpus callosum;
• changed pachinzvimbo cerebral cortex;
• zvemamiriro chinzvimbo convolutions;
• cysts pamwe serous kugutsikana.

Nemaziso ongororo inoratidza hadzina kufambiswa zvakanaka muchitokisi urongwa vawirwa nenjodzi. Muna fundus kuuyawo maitiro kuchinja akadai rive dete pamusoro rinenge kuderedza tsinga uye ruvara, asi kukura pasikweya uye matanda.

kiriniki

Sei kutarisa vana Aicardi chirwere? Zviratidzo havasi zvakananga zvakakwana pakutanga, nekuti vana vakaberekerwa izwi, kusangana nekutsi kwemukadzi uye mutarise utano. Kusvikira mitatu vacheche kuva pasina kurapwa zviratidzo, zvino pane pfari. Ivo dzaitaurwa muchimiro Serial retropulsivnyh symmetric clonic-tonic kurwadza kwacho maoko nemakumbo. Kazhinji izvi zvichiri kujoina infantile kurwadza kwacho flexor tsandanyama. Mune zvisingawanzoitiki Muzviitiko, hosha rikaitika debut rokutanga romwedzi upenyu. Zvipusha pfari hadzina yakasvikawo mishonga.

In iri chetsinga chinzvimbo vana vakadaro, vasanyanye kuti dehenya hukuru, akaderedza tsandanyama matauriro, asi mumwe chete angoramba achitaura hunenge disinhibition kana, Ukuwo, paresis uye kuoma nhengo dzomuviri. Mukuwedzera, hafu varwere vane skeletal abnormalities: agenesis kana kusavapo mbabvu vertebral. Izvi zvinotungamirira zvikuru scoliosis mamiriro kuchinja.

Diagnostics

Pari, hapana miedzo akavimbika anogona kubatsira kuziva Aicardi syndrome. Pamuviri nemagene chirwere pachikuva hazvibviri, sezvo majini anokonzera kukura chirwere ichi haisati kuratidzwa.

Wetsinga vave kudzidza kuti ichaona chaizvo zviratidzo. Idzi dzinosanganisira:

• rokuongorora;
• ophthalmoscopy;
• electroencephalography;
• rinobva resonance kuri;
• Maekisirei yacho nomuzongoza.

Izvi zvinobvumira kuti ticherechedze pasina corpus callosum uye pakumedura symmetry ari Hemisférios Cerebrais, kuvapo cysts.