Disease pa mlingo wa chibadwa - Joubert syndrome

N'zomvetsa chisoni kuti ngakhale chitukuko onse mankhwala, kukhala matenda mankhwala kuti sitingathe. Mwachitsanzo, Joubert syndrome ndi ambiri amangoona ngati dzina wokongola opanda kutanthauzira bwino, ndipo uyu ndi matenda majini a cerebellum zokhudza moyo ndi thanzi la munthu. Ndiko kuti, oopsa masoka kapena matenda angathe kupewedwa? Mwina kwenikweni kuchiza kapena kuzindikira pa siteji oyambirira? Kodi iwe ukudziwa kalikonse za vuto yapadera? Tiyeni tiwone.

Kodi mtundu wa kuukira

Choncho, Joubert syndrome. Ndi chiyani icho? Ngati mawu amodzi, mavuto. Ngati mupereka kuyankha mwatsatanetsatane, tikhoza kunena kuti syndrome ichi ndi chosowa, mwamwayi, matenda limodzi ndi hypoplasia kapena anasiya wa vermis cerebellar ndi udindo moyenera ndi mgwirizano. Wodwala bwino anapanga ubongo tsinde, choncho mwina kupuma kulephera, mpaka siteji. Anthu mungaone kuti kayendedwe nthenda ya maso ndi lilime, utachepa minofu kamvekedwe. Matenda a madotolo pambuyo kuzipenya matenda ndi kupeza mbali khalidwe la cerebellar vermis hypoplasia, komanso elongation ake ndi thickening wa miyendo kutsogolo. Apo ayi, umatchedwa chizindikiro cha "molar". Kutanthauzira kuswa deta pokhapokha Kujambula maphunziro a ubongo. Kalanga, Joubert syndrome akhoza anasamutsa cholowa.

chibadwa

Pakali pano, twente-kuzindikiridwa masinthidwe jini zotsogolera ku matenda wowopsa. matenda onse okhudzana ndi osowa autosomal recessive matenda yodziwika ndi chitukuko ndi malformations lililonse ndi chosiyana wa cerebellum ndi ubongo tsinde. The increment kuti anati pathologies Joubert syndrome limodzi ndi hypotension, chitukuko anachedwa, apnea ndi matenda diso. Ana ndi matenda kawirikawiri kufa matenda. The kokha chinthu chenicheni - kufala ka matenda - 1 mu 80,000 anthu.

nkhani za m'mbiri

Kwa nthawi yoyamba syndrome Joubert anazindikiritsidwa mu 1969 ku France katswiriyu Mari Zhuber. Iye anawafunsa abale anayi ndi apnea diso nthenda, retardation maganizo ndi vermis cerebellar kwina. Pambuyo ankachititsa researches kafukufuku anasonyeza kuti mtundu uwu wa matenda limapezeka padziko lonse popanda kusiyana mitundu ndi mafuko. Angatetezere matenda angakhale pa siteji ya chitukuko cha mwana wosabadwayo anthu, monga akukhulupirira kuti zolakwa mu chitukuko cha ubongo embryonic kumabweretsa chiwonetsero cha matendawa. Zochita syndromes ambiri ndi masinthidwe majini ndi zizindikiro zofanana, koma Joubert syndrome kusiyanitsa kuvutika ocular, hypotonia kutangoyamba ndi matenda kupuma.

Zizindikiro ndi zizindikiro

Tikapenda syndrome Joubert, zizindikiro zingadziŵike potsatira ubongo; Kumaonetsa heterogeneity matenda mu yofanana osiyana, chidziwitso kuwonongeka, mavuto ndi kulankhula ndi khunyu. More alionse odwala kuona matenda Makutu ndi mavuto khalidwe. Kawirikawiri, koma zimachitika kuti amadera hydrocephalus ndi occipital encephalopathy. A kotala odwala anapeza matenda a impso: enaake displzaii ndi kobadwa nako kwa chiwindi fibrosis. Ngati anthu syndrome Down, munthu amene akudwala matenda Joubert akhoza kukhala mbali stereotypical: yaitali nkhope, otchuka mphumi, mkulu nsidze arched, pakamwa triangular, mphuno upturned, yotundumukira kunja kwa mpanda chibwano, ndi makutu otsika anapereka. Ana pali chitukuko retardation ndi vuto kuyenda. zipangizo assistive zambiri chofunika ndi kayendedwe.

Kodi kuchitira

Kwenikweni inu muyenera kuvomereza chabe? Konse, patsogolo chibadwa ndawapatsa chiyembekezo kusintha ndi kuchiza matenda. Tiyenera loyamba kuphunzira mbiri banja, chigawo mitundu kuchita kufufuza zonse zimene wodwalayo. mavuto kupuma amafuna polojekiti apnea, njira yapadera kulandira ndi hardware thandizo kupuma. Nthawi zina m'pofunika neurosurgical alowererepo ndi mankhwala a khunyu. Mwachidule, angathe kuchizidwa ndi Joubert syndrome, zimayambitsa amene anaphunzira ndipo anamvetsa.

Mapa tsogolo

Izi si choncho chiyembekezo zinthu zilili ndi anthu amene apeza syndrome Joubert. Photos wa odwalawo sizinayende kupereka chithunzi thunzi chokwanira cha zitsanzo zawo ndi zizindikiro kunja kuoneka pafupi ndi ukalamba. Ena moyo palokha ndipo zipatso ndi zoona ndithu, kusamalira wothandiza pa moyo wautali. Munthu ayenera kukumana Kupenda zonse ziwalo zonse, kuti kuwunika kupezeka kwa mankhwala kutero. zolakwika kunja akhoza kusonyeza kudzera anomalies kobadwa nako, monga mphanga Mlomo, polydactyly kapena dongosolo nthenda ya oropharynx lapansi. Nthawi zina yambiri Mitsempha mu ubongo akhoza anati. Amenewa ndi nthawi bomba kuti akhoza kugwedeza mu miniti iliyonse. Mapa kwa moyo wam'tsogolo zikudalira pa mlingo chiwonongeko cha cerebellum lapansi. M'mawu ena, wodwala akhoza kuona ngati galimoto yaing'ono kapena matenda okhudza ubongo, ndi kulandira chilema ndi kukhala mu chikhalidwe yaikulu popanda chiyembekezo kusintha. Ndi matenda uyu akhoza sudzasiyidwa ana zosasamaliridwa ndi kulephera kupuma. Mu maloto adakwanisa chabe kutsamwa. Amafuna zonse zachipatala kukayezedwa kuwayang'anira udindo ziwalo mkati. Umoyo wa mwana ali kuthandiza m'njira zolimbitsa thupi ndi maphunziro pa chitukuko cha mpweya. Mankhwalawa njira opaleshoni akhoza asonyeza, mankhwala ndi opaleshoni asang'ambe.