Aicardi syndrome: kufotokoza, matenda, kuwanda.

Aicardi Syndrome - ochepa chabe cholowa matenda, zomwe kuwawonetsera pakalibe ndi corpus callosum, khunyu khunyu ndi kusintha fundus lapansi. Komanso, odwala ndi kuchedwa kukula m'maganizo ndi m'thupi ndi kuphwanya dongosolo la mafupa nkhope ya Chibade cha.

nkhani

Mu zaka 60 mzaka zana makumi awiri French katswiriyu Zhan Aykardi anafotokoza ambiri milandu matenda. Pali maumboni kale nawo mabuku zachipatala, koma ndiye iwo amatchedwa kuwonekera kwa matenda obadwa nawo. zaka zisanu ndi ziwiri pambuyo buku loyamba ammudzi mankhwala anayambitsa latsopano nosological wagawo - Aicardi syndrome.

Koma kuphunzira matenda lapitirizabe, chiwerengero cha zizindikiro, ndipo ngakhale kukodzedwa, nthambi yatsopano anatuluka. Mwachitsanzo, Aicardi-Hauterivian syndrome umene umapereka encephalopathy ndi woyambira ganglia calcification ndi leukodystrophy.

kuwanda

Popeza zake boma kuzindikira Aicardi syndrome Madokotala aubongo anakumana za zana kasanu. odwala ambiri ankakhala Japan komanso m'mayiko ena Asian. Ofufuza Swiss, kufala kwa matenda - milandu 15 pa ana zana chikwi. Mwatsoka, ziwerengero mwachidziwikire kuderera mmene kupatsa, ambiri odwala amakhalabe unexplored.

Matendawa akufotokozera atsikana. Ndipo madokotala ndikukhulupirira kuti chifukwa cha milandu ambiri amazengereza chitukuko psycho-thupi ndi spasms infantile.

chibadwa

Aicardi syndrome - matenda kugonana zogwirizana, jini zosalongosoka ili pa X khromozomu. Mwalamulo milandu zitatu zimene anyamata syndrome Klinefelter ndi zizindikiro zofanana. Ana aamuna ndi genotype yachibadwa matenda XY ndi amapha.

Onse milandu maonekedwe a matenda amachitika chifukwa cha masinthidwe ayi. Ndiko kuti, pamaso pa proband banja sanapezedwa milandu syndrome Aicardi. The kulanda jini zosalongosoka mayi wamkazi ndi chodziwikiratu. Chiopsezo kuti mwana wachiwiri adzabadwa ndi matenda ndi laling'ono kwambiri ndipo peresenti n'komwe.

Tikagwiritsa ntchito malamulo a Mendel, kuti banja kale ndi mwana wina ndi matenda, muli mungachite zotsatirazi:

• wanthayo mnyamata;
• wathanzi mtsikana (33%);
• wathanzi mnyamata (33%);
• mtsikana wodwala (33%).

Zimayambitsa matenda panopa wosadziwika, kafukufuku akupitirirabe.

kuvulazidwa thunthu

Asayansi ndi madokotala amagwiritsa ntchito njira zosiyana anapereka Aicardi Syndrome. Photo ndi ubongo kulingalira maginito kumveka - mmodzi wa ambiri, koma kuganizira chithunzi chonse n'chotheka pa autopsy. Pa phunziro la ubongo angazindikire kuvutika angapo chitukuko ubongo chubu:

• wathunthu kapena tsankho pakalibe corpus callosum;
• kusintha mu malo a kotekisi oziziritsa;
• nthenda udindo wa convolutions;
• cysts ndi okhutira serous.

Tosaoneka mupeza monyanyira mu dongosolo foni ya m'madera okhudzidwa. Mu fundus komanso kudzapereka kusintha khalidwe monga kupatulira a minofu, kuchepetsa Mitsempha ndi pigment, koma cones kukula ndi ndodo.

chipatala

Kodi kuyang'ana ana ndi matenda Aicardi? Zizindikiro si yeniyeni zokwanira pachiyambi, chifukwa ana pa akuti, ukazi ndi kuyang'ana wathanzi. Mpaka miyezi itatu makanda kukhala popanda zizindikiro matenda, ndiye pali khunyu. Iwo anapereka mu mawonekedwe a siriyo retropulsivnyh ofananira spasms clonic-zimandilimbikitsa ya nthambi. Nthawi zambiri izi akadali agwirizane infantile spasms flexor minofu. Nthawi zina matendawa amapezeka mu kuwonekera koyamba kugulu la mwezi woyamba wa moyo. Khunyu khunyu si cropped mankhwala.

Mu za ubongo wa ana amenewa, kuchepa zamitundu Chigaza, yafupika minofu kamvekedwe, koma mmodzi ndiye amaganiza bongo disinhibition kapena, Tikawonetsetsa paresis ndi ziwalo. Komanso theka la odwala ndi kuvutika chigoba: agenesis kapena kusapezeka kwa nthiti vertebral. Zimenezi zimabweretsa kusintha aakulu kupindika msana kaimidwe.

diagnostics

Panopa, palibe mayesero odalirika amene angakuthandizeni kudziwa syndrome Aicardi. Akalandire chithandizo majini matenda pa siteji sizotheka, monga jini udindo chitukuko cha matenda ayi koma kuwululidwa.

Katswiriyu akhonza kusankha kuphunzira kuti zidzandizindikiritsa zizindikiro zenizeni. Njirazi ndi monga:

• anayendera;
• ophthalmoscopy;
• electroencephalography;
• kumveka maginito kulingalira;
• X-ray msana.

Zimenezi zimathandiza kudziwa kusapezeka kwa corpus callosum ndi kumatula kwa chosokonekera wa hemispheres oziziritsa, pamaso pa cysts.