Isifo kwinqanaba yemfuza - Joubert syndrome

Okubuhlungu kukuba, nangona zonke uphuhliso amayeza, ahlale unyango lwesifo ukuba asikwazi. Umzekelo, Joubert syndrome yaye abaninzi kubonakala nje igama elihle ngaphandle nentsingiselo ecacileyo, kwaye oku sisifo yezofuzo ye kwiCerebellum echaphazela ubomi kunye nempilo yomntu. Oko kukuthi, ukuba luck embi ezibulalayo okanye isigulo zinokuthintelwa? Mhlawumbi ngenene ukunyanga okanye ubuncinane ukuchonga kwibakala ekuqaleni? Ngaba uyayazi into malunga syndrome twisiseni? Makhe sibone.

Luni yokuhlasela

Ngoko ke, Joubert syndrome. Yintoni na? Ukuba igama elinye, ukuba inkathazo. Ukuba unike impendulo eneenkcukacha, singatsho ukuba esi sifo yinto enqabileyo, ngethamsanqa, esi sifo sikhatshwa hypoplasia okanye ukungabikho ngokupheleleyo vermis cerebellar inoxanduva eseleyo kunye nolungelelaniso. Isigulana kakubi kwakhiwa Isiqu ingqondo, ngoko isenokuba ukusilela yokuphefumla, ukuya engetelekeke. Abantu ungaqaphela iintshukumo okungaqhelekanga yamehlo kunye nolwimi, ukuncipha kwezihlunu. Uxilongo oogqirha ukunika emva Imigqaliselo zeklinikhi bachonge iimpawu uphawu le vermis hypoplasia cerebellar, kodwa zobude yayo kunye ukuqina imilenze yangaphambili. Kungenjalo, ibizwa ngokuba iliphawu 'izinyo ". Chaza ulwaphulo data kuphela emva izifundo MRI ebuchotsheni. Awu, Joubert syndrome badluliselwe njengelifa.

zofuzo

Ukuza kuthi ga ngoku, amashumi ezichongiweyo-zofuzo ezikhokelela syndrome kakubi. Yonke disorder eyeleleneyo is a autosomal enqabileyo sofuzo isifo luphuhliso kunye malformations ngazo nento ezikhethekileyo kwiCerebellum nobuchopho stem. Le kokupha ukuba uthe ezimbi Joubert syndrome ephelekwa hypotension, uphuhliso ilibele, umoya kunye nezifo amehlo. Abantwana nalo syndrome basweleka phambi kokuxilongwa. Into entle - kukhokelele kwiqondo encinane izifo - 1 ngo-80.000 abantu.

ulwazi zembali

Ngokuba lixesha lokuqala Joubert syndrome ithe yaphawulwa ngo-1969 yi-luvo French Mari Zhuber. Yena ehlola abane kunye umoya, iliso okungaqhelekanga, ukukhubazeka engqondweni kunye vermis cerebellar ndingekho. Emva kokuba ephanda olwenziwa kwabonisa ukuba olu hlobo syndrome lwenzeka kulo lonke ihlabathi ngaphandle ukungafani kunye nobuhlanga. Ukunqabiseka esi sifo kuba nqanaba uphuhliso umbungu, njengoko ekholelwa ukuba impazamo kuphuhliso wobuchopho osandul kukhokelela ukubonakalalisa onaso. Ukuziqhelisa, syndromes abaninzi kwiDNA uneempawu ezifanayo, kodwa Joubert syndrome bahlule ukungaqheleki ocular, hypotonia ebuntwaneni kunye neengxaki zokuphefumla.

Iimpawu ezalatha

Ukuba sihlolisisa Joubert syndrome, iimpawu kumiselwa impendulo zemithambo; Kubonisa ukungafani lwezonyango kwiiyantlukwano ezahlukeneyo, lomonakalo ngokwasengqondweni, ubunzima zentetho nokuxutha izinto. Ngaphezu kwesinye kwisithathu izigulane zifumana iingxaki ekuva kunye neengxaki zokuziphatha. Ayifane yenzeke, kodwa kuyenzeka ukuba ubonisa hydrocephalus kunye Occipital Encephalopathy. Ikota izigulane bafumana isifo sezintso: displzaii esinganyangekiyo kwaye iziphene abanesigulo hepatic. Njengabantu abane Down syndrome, umntu onesifo Joubert syndrome unokuba iimpawu ezibonisa ukungaphangalali: ubuso elide, ibunzi abadumileyo, nasemashiyini aphezulu enhle, umlomo olunxantathu, impumlo ezijonge, isilevu, elibukhali, neendlebe ephantsi-abekwe. Ngokuba abantwana kukho abazizidalwa uphuhliso kunye ingxaki ukuhamba. izixhobo zokuncedisana ngokufuthi efunekayo ukuze intshukumo.

Indlela yokuphatha

Ngokwenene kufuneka wamkele nje? Nakanye, ukuhambela phambili zofuzo onike ithemba ngokuphuculwa kunye nonyango lwesifo. Kufuneka bafunde imbali yosapho, icandelo yobuhlanga kuqala kuqhuba uviwo olupheleleyo malunga nesigulane eso. iingxaki yokuphefumla linokufuna ukuba umoya, iindlela ezizodwa ngokufumana kunye nenkxaso hardware uphefumlayo. Maxa wambi Ukungenela neurosurgical kuyimfuneko namayeza ukulawula ukuxhuzula. Ngamafutshane, oku siphathwe Joubert syndrome, oonobangela apho bafunda, yakuqonda.

Liqikelele elizayo

Le nto meko lithemba kangangokuba abantu abaye bafumanisa Joubert syndrome. Iifoto kwezi izigulane zange nangoko unika umfanekiso opheleleyo amava abo, kunye nemiqondiso zangaphandle kubonakala kufutshane ukwaluphala. Abanye baphile ubomi ezizimeleyo kunye nemveliso kakhulu oyinyaniso, luncedo elixhasayo ebomini elide. Umntu kufuneka bangenele iimviwo rhoqo onke amalungu, ukuba esweni ukufumaneka kwamachiza kuyimfuneko. ebuntwini bangaphandle ukuze abonakaliswa mgaqweni iziphene, ezifana iindevu zicandeke izihlambo, polydactyly okanye isakhiwo okungaqhelekanga le oropharynx. Maxa wambi isixa ngokugqithiseleyo imithambo yegazi ebuchotsheni ukuze ziqwalaselwe. Oku ngokwenene ukuqhushumba ixesha ukuba jerk kuyo nayiphi na umzuzu. Sase- ubomi elizayo lixhomekeke ngokupheleleyo iqondo ukutshatyalaliswa kwiCerebellum. Ngamanye amazwi, isigulane bangase njenge injini encinane okanye ukuphazamiseka kwengqondo, kwaye bafumane ukukhubazeka kwaye sihlale zikwimeko kakhulu kungekho themba ukuphuculwa. Ngale syndrome ayikwazi kusala abantwana bodwa kunye ukusilela sokuphefumla. Ephupheni ukuba bakwazi ziliminxe nje. Kudinga unyango ngetshekhi-up esweni ubume izibilini. Kwiqula-ntle mntwana isiphumo umthambo kuyingenelo kunye noqeqesho kuphuhliso umoya. Xa unyango amanyathelo zokutyanda iboniswe, amayeza, kunye notyando kancinane wesibeleko esigqibeleleyo.