Aicardi syndrome: inkcazelo, uphethwe, ukwanda.

Aicardi Syndrome - iseliswelekile isifo ilifa, esizibonakalisa ukungabikho le I-, sokuwa kunye notshintsho kwi fundus. Ukongeza, izigulane ziye kwalibaziseka uphuhliso engqondweni nasemzimbeni kuchasene ubume amathambo yobuso intamo.

indaba

Kule minyaka ingama-60 le-luvo French kwinkulungwane yamashumi amabini Zhan Aykardi wachaza yentlaninge yamatyala kwesi sifo. Kukho iimbekiselo ngaphambili kubo iincwadi lonyango, kodwa ke kuwo ekubonakalisweni zosulelo naso. Kwiminyaka esixhenxe emva kopapasho lokuqala abezonyango liye lasungula iyunithi nosological entsha - Aicardi syndrome.

Kodwa ke ukufunda sifo iye yaqhubeka, inani iimpawu, kunye wanda, amasebe ezitsha. Umzekelo, Aicardi-Hauterivian syndrome ukuba ubonisa Encephalopathy kunye calcification ganglia carcinomas leukodystrophy.

ukwanda

Ekubeni ukwamkelwa ngokusemthethweni Aicardi syndrome neurologists yayo idibene izihlandlo ezimalunga namakhulu amahlanu. izigulane ezininzi wayehlala Japan kunye namanye amazwe Asia. Ngokutsho kwabaphengululi Swiss, izehlo kwezifo - amatyala 15 per abantwana ezilikhulu lamawaka. Ngelishwa, amanani kusenokwenzeka ukuba phantsi ubungakanani ukupha, njengoko uninzi lwezigulane kuhlala unexplored.

Esi sifo senzeka amantombazana. Ke abathile bakholelwa ukuba unobangela iimeko ezininzi kokulibazisa lophuhliso yezengqondo komzimba kunye aqaqambayo bobusana.

genetics

Aicardi syndrome - isifo enxulumene ngesondo-, isakhi enesiphako ukwakweli X chromosome. Ibhaliswe iimeko ezintathu apho amakhwenkwe kunye Klinefelter syndrome uneempawu ezifanayo. Ngokuba abantwana abangamakhwenkwe kunye kweejini oluqhelekileyo sifo XY lelibulalayo.

Onke amatyala inkangeleko yale sifo zisisiphumo izakhi khona. Oko kukuthi, phambi kokuba proband usapho akwafumaneka amatyala Aicardi syndrome. Ukutshintshelwa isakhi nesiphene ukusuka kumama isiya intombi kwenzeke. Ingozi yokuba umntwana wesibini uya kuzalwa nesi sifo lincinane kakhulu yaye ekhulwini ngaphantsi kwesinye.

Ukuba sisebenzisa imithetho Mendel, ukuba sibini sele unayo enye, unyana nesi sifo, unazo iinketho zilandelayo:

• inkwenkwe ifile;
• ephile (33%);
• inkwenkwe enempilo (33%);
• intombazana abagulayo (33%).

Ubangelwa sifo okwangoku ayaziwa, uphando oluqhubekayo.

komzimba bathuthumele

Oosonzululwazi kunye noogqirha basebenzisa iindlela ezahlukeneyo ukuseta i Aicardi Syndrome. Ifoto ngu ingqondo magnetic livakale umfanekiso - enye eqhelekileyo, kodwa ukuba uqwalasele yonke umfanekiso kunokwenzeka kuphela xa kwesidumbu. Ngexesha ukufunda ubuchopho ukungaphili ezininzi zophuhliso uvaleke:

• ukungabikho epheleleyo okanye kwinxenye yalo I-corpus;
• kutshintsha indawo neuron;
• isikhundla okungaqhelekanga of convolutions;
• cysts kunye nomxholo serous.

iimviwo engabonakali utyhila nezitenxo lwesakhiwo iseli ye kwimimandla echaphazelekayo. Xa fundus ziza nezazo utshintsho iimpawu ezifana thinning of nyama, ukunciphisa inani imithambo yegazi kunye sakhi, kodwa cone ukukhula kunye iintonga.

ikliniki

khangela njani abantwana Aicardi syndrome? Ezi mpawu ezithile ngokwaneleyo ekuqaleni, ngokuba abantwana izalelwe kota, lobufazi kwaye bakhangeleka bephilile. Ukuya kutsho kwiinyanga ezintathu iintsana ukuphuhlisa Akukho mpawu lwezonyango, ngoko kukho ukugula. Bona thaca ngohlobo lezibuko retropulsivnyh twatsa inkantsi clonic-tonic le imilenze. Kwiimeko ezininzi oku nangoku ukujoyina bobusana izihlunu aqaqambayo flexor. Kwiimeko ezinqabe kakhulu, esi sifo kwenzeka bt wenyanga yokuqala yobomi. sokuwa abayi isikiwe amayeza.

Xa imo luvo abantwana abanjalo, ukuhla yokakayi ubukhulu, kunciphise kwezihlunu, kodwa yenye bucibusa ikhaliphe disinhibition okanye, icala, paresis kunye nokukhubazeka. Ngaphezu koko, isiqingatha izigulane kufuneka ukungaqheleki skeletal: agenesis okanye ukungabikho iimbambo vertebral. Oku kukhokelela ekubeni utshintsho kakhulu zokufota ukuma.

ekuxilongweni

Okwangoku, akukho iimvavanyo enokuthenjwa kunceda ukuchonga Aicardi syndrome. Siswini diagnosis eqongeni akwenzeki, njengoko gene noxanduva lokuphuhlisa le sifo alikafiki kutyhilwa.

Emine inokutyumba isifundo eya ukuchonga iimpawu ezithile. Ezi ziquka:

• nokuhlola;
• ophthalmoscopy;
• electroencephalography;
• ukwenza umfanekiso liyenza magnetic;
• -X-reyi yomqolo.

Oku kukuvumela ukuba ubone nokungabikho I-corpus kunye qhiphu wolingano le zifaka yobuchopho, ubukho cysts.