Aicardi syndrome: description, cudurka, baahsanaanta.

Aicardi Syndrome - dhif ah cudur la iska dhaxlo, taas oo teedu maqnaanshaha callosum gulkroppshormon ah, suuxdintu, iyo isbedel ku fundus ah. Intaa waxaa dheer, bukaan ah ay dib u horumarka maskaxda iyo jirka iyo xadgudub ka dhan ah qaabka lafaha wajiga qalfoofku.

story

In 60 sano ee qarnigii labaatanaad neurologist Faransiiska Zhan Aykardi tilmaamay daraasiin xaaladood oo cudurka this. Waxaa jira tixraacyo hore iyaga suugaanta caafimaad, laakiin ka dibna waxay la gudbiyo sida daliilka cudurka lagu dhasho. Toddoba sano ka dib markii la daabaco koowaad ee bulshada caafimaadka ayaa soo bandhigay a unit nosological cusub - Aicardi syndrome.

Laakiin baadhitaanka cudurka ayaa sii waday, tirada calaamadaha, iyo xataa balaariyay, laamo cusub baxday. Tusaale ahaan, Aicardi-Hauterivian syndrome in teedu encephalopathy la kalshum ganglia asalka iyo leukodystrophy.

baahsanaanta

Tan iyo markii ay aqoonsi rasmi ah Takhaatiirta dareemeyaasha ay Aicardi syndrome kulmay shan boqol jeer. bukaanka intooda badan ku noolaa Japan iyo wadamada kale ee Asian. Sida laga soo xigtay cilmi Swiss, dhacdooyinka cudurka - 15 xaaladood halkii boqol oo kun oo carruur ah. Nasiib darro, statistics u badan tahay inay dhayalsan xadka uu siinayo, sida inta badan bukaanka ayaa weli sahamin.

Cudurku wuxuu horumariyaa ee gabdhaha. Iyo dhakhtarradu ka qabaan in ay tahay sababta oo ah kiisaska intooda badan dib u dhac horumarka psycho-jir iyo dubaaxin carruurta.

genetics

Aicardi syndrome - cudurada galmada lala a, hiddo haleysan yahay waxa uu ku yaalaa on koromosoom X. Registered saddex kiis oo kale oo wiilasha la Klinefelter syndrome leeyihiin calaamado la siman. Waayo, carruurta oo lab la genotype caadi ah cudurka xy waa loo dhintaa.

All xaaladood oo muuqaalka kore ee cudurkaan waa natiijada Isbedelo goosgoos ah. Taasi waa, ka hor inta proband qoyska lagama helin kiis oo Aicardi syndrome. kala iibsiga ee hiddo haleysan ay hooyadu u Gabadhaadii waa lagama yaabo. Khatarta in ilmaha labaad dhalan doona cudurkan waa mid aad u yar yar iyo waa boqolkiiba ka yar hal.

Haddii aan codsan sharciyada Mendel, in labada lamaane ay horey u leedahay mid ka mid ina cudurkan, waxaad leedahay doorashooyinka soo socda:

• Wiil dhicis;
• Gabar caafimaad (33%);
• Wiil caafimaad (33%);
• Gabar buka (33%).

Sababaha cudurka yihiin hadda aan la aqoon, cilmi baaris ayaa ka socda.

anatomy silica

Qubarada iyo dhakhaatiirta isticmaalaan habab kala duwan si ay u dejiyaan Aicardi Syndrome ah. Photo by maskaxda resonance imaging magnetic - mid ka mid ah kuwa ugu badan, laakiin si ay u eegaan sawirka oo dhan waa suuragal ah keliya at qaliin. Inta lagu guda jiro waxbarasho ee maskaxda lagu ogaan karaa kala duwan ee horumarka tube neural:

• maqnaanshaha complete ama qayb ka mid ah callosum gulkroppshormon ah;
• bedesho booska of kiliyaha cerebral;
• meel aan caadi ahayn ee convolutions;
• fiix la content nabarrada.

baaritaan cqaadir waxyooday khaladaad in qaab-dhismeedka gacanta oo ka mid ah goobaha ay saameeyeen. In fundus ayaa sidoo kale soo bandhigi isbedelka sifooyin dhowr ah sida khafiifinta ee nudaha, yaraynta tirada xididdada dhiigga iyo Midabka, laakiin loo yaqaano koritaanka iyo qataarradeedii.

rugta caafimaadka

Sidee u fiirin karaa carruurta la Aicardi syndrome? Astaamuhu ma gaar ah oo ku filan in bilowgii, sababtoo ah carruur baa u dhalatay ee muddada, siilka iyo caafimaad. Ilaa saddex bilood dhallaanka yeeshaan wax calaamado clinical, ka dibna waxaa jira qalal. Waxay waxaa lagu soo bandhigay qaab retropulsivnyh serial symmetric dubaaxin clonic-tonic ee addimmada waxay aad. Xaaladaha intooda badan, welina waa uu ku biiro muruqyada dubaaxin lugta carruurta. Marar dhif ah, cudurka ku dhacaa ugu horeeyay ee bishii kowaad ee nolosha. suuxdintu ma jaray daawo.

In xaaladda dareemayaasha carruurta, hoos u dhac tirada dhakada, hoos cabirida xaalada muruqa, laakiin waa hummaag hal dhinac disinhibition ama, taas bedelkeeda, paresis iyo curyaannimo. Intaa waxaa dheer, nus ka mid ah bukaannada ku leeyihiin caadi ahayn lafaha: iskaanka ama maqnaanshaha of feeraha vertebral. Tani waxay keenaysaa in isbedel Dhehana qalooca daran.

Baadhista xanuunada

Currently, ma jiraan baaritaan lagu kalsoonaan karo oo kaa caawin kara garto Aicardi syndrome. cudurka hidde dhalmada masraxa suurtogal ma aha, sida hiddo mas'uulka ka ah horumarinta cudurkan aan weli shaaca ka qaaday.

Neurologist u magacaabi karta daraasad oo muujinayo astaamo gaar ah. Kuwaas waxaa ka mid ah:

• kormeerka;
• ophthalmoscopy;
• electroencephalography;
• imaging resonance magnetic;
• X-rays-dhabarta.

Tani waxay u ogolaaneysaa in aad si loo ogaado maqnaanshaha callosum gulkroppshormon iyo jejebintii dhabanada ee barka ah ee maskaxda, joogitaanka fiix.