Aicardi syndrome: whakaahuatanga, te tātaritanga, nuinga.

Aicardi Syndrome - he onge mate tuku, e faaite i te ngaro o te tahua io hono, haurangi haurangi me huringa i roto i te fundus. I tua atu, kua roa tūroro whanaketanga hinengaro, me te tinana, me te takahi o te hanganga o nga wheua kanohi o te angaanga.

kōrero

I roto i nga tau 60 o te toketā neave French rautau rua tekau whakaahuatia Zhan Aykardi pinepine o ngā take o tenei mate. He tohutoro mua ki a ratou i roto i te tuhinga hauora, engari ka i tuku ratou ki rite faaiteraa o mate congenital. E whitu nga tau i muri i te whakaputanga tuatahi o te hapori hauora kua whakaurua te kōwae nosological hou - Aicardi syndrome.

Ko kua tonu te ako o te mate, te maha o ngā tohu, a tae noa whakawhānui, puta manga hou. Hei tauira, Aicardi-Hauterivian syndrome e faaite encephalopathy ki basal calcification ganglia me leukodystrophy.

nuinga

Mai te mea e rima rau nga wa tutaki tona āhukahuka mōhiohio neurologists Aicardi syndrome. noho te nuinga o tūroro i roto i Japan, me ētahi atu whenua Āhia. E ai ki kairangahau Swiss, te pā o te mate - 15 take ia tamariki rau mano. Kia aroha mai, e pea ki haafaufaa ore i te whānuitanga o hoatu tatauranga, rite te nuinga o ngā tūroro tonu unexplored.

whakawhanake te mate i roto i ngā kōtiro. Na whakapono tākuta e ko reira te take o te nuinga o te roa o te whanaketanga psycho-whaiaroaro, me mamae aruaru wā.

iranga

Aicardi syndrome - he mate sex-hono, kei te ira kei runga i te pūira X. Rēhita e toru take i roto i nei mau tamaroa ki Klinefelter syndrome i rite tohumate. Hoki ngā tamariki tane ki te tohuira noa he mate mate XY.

take katoa o te ahua o tenei mate ko te hua o irakētanga katea. Ko, i mua i kore i kitea te proband whānau take o Aicardi syndrome. Ko te whakawhitinga o te ira i te whaea ki te tamahine he pea. Ko te mōrea e e ka whanau te rua o nga tamaiti ki tenei mate he iti rawa, a he iti iho i te kotahi ōrau.

Ki te tono tatou i nga ture o Mendel, e whai kē te tokorua kotahi tama ki tenei mate, whai koe i te kōwhiringa e whai ake:

• tamaiti wahine;
• kotiro hauora (33%);
• tamaiti hauora (33%);
• kotiro mate (33%).

He unknown tēnei wā nga take o te mate, he haere tonu te rangahau.

anatomy mehameha

Scientists me taote whakamahi tikanga rerekē ki te whakaturia te Aicardi Syndrome. Photo i te roro atahanga te kōwarotanga autō - tetahi o te noa tino, engari ki te whakaaro ko taea te pikitia katoa anake i tūpāpaku. I roto i te ako o te roro e taea kitea abnormalities maha o te whanaketanga ngongo neural:

• ngaro oti te kanohi ranei o te io hono;
• huri i roto i te tūranga o te uho kaka;
• tūnga rerekē o convolutions;
• cysts ki te ihirangi serous.

whakamātautau mōkitokito heheu kōtītiti i roto i te hanganga pūtau o te wāhi pānga. I roto i te fundus tapae ano hoki nga huringa āhuatanga pērā i thinning o te kikokiko, te whakaiti i te maha o oko toto, me te ngarahu, ko nga tihi tupu me rakau.

whare hauora

Pehea e taea te titiro tamariki ki Aicardi syndrome? e kore e motuhake nui i roto i te timatanga te tohu, no te mea i whanau tamariki i te wā, tara, me te titiro hauora. Whakatika ki te toru marama kohungahunga whakawhanake kahore tohu haumanu, ka i reira he haurangi. E te aroaro ratou i roto i te puka o te retropulsivnyh rangatū hangarite mamae clonic-toniki o nga wahi. I roto i te nuinga o te wā kei te uru tonu tenei aruaru uaua mamae flexor. I roto i te wā onge, puta te mate i roto i te tuatahi o o te ora tuatahi te marama. haurangi haurangi kahore e Katohia rongoā.

I roto i te mana neurological o tamariki penei, he hekenga o rahi angaanga, heke oro uaua, engari ko reira-iu kotahi reflexes disinhibition ranei, hei kōrero, paresis me te pāpāngia. I tua atu, hawhe o nga tūroro i abnormalities kōhiwi: agenesis ngaro o rara vertebral ranei. arata'i tenei ki kino huringa scoliosis tūranga.

tātaringa

I tēnei wā, i reira he kahore whakamātautau pono e taea te āwhina te tautuhi Aicardi syndrome. e kore e taea tātaritanga ira prenatal i runga i te atamira, rite kore te te ira kawenga mo te whanaketanga o tenei mate ano whakakitea.

kia toketā neave whakarite i te ako e ka tautuhi tohu motuhake. Ko ētahi o ēnei:

• tirohanga;
• ophthalmoscopy;
• electroencephalography;
• atahanga te kōwarotanga autō;
• X-hihi o te tuaiwi.

Tenei taea ki a koe te kitea te ngaro o te io hono me te pakaru o te hangarite o te tuakoi haaparuparu, te aroaro o cysts.