Weber-Krabbe syndrome: oonobangela, iimpawu kunye neempawu unyango

Ngamanye amaxesha amafu ukuzalwa uphethwe ngoogqirha - "Sturge-Weber-Krabbe syndrome". Le enqabileyo naso angiomatous isifo samehlo, isikhumba kunye nobuchopho nemisipha. Esi sifo kwenzeka xa umntu omnye 100,000. Okokuqala ngqa, esi sifo iye yachazwa Sturgeon ngo-1879, yaye ngowe-1922, Weber wachaza iimpawu zafunyanwa ngethuba-X-reyi.

Krabbe ngo-1934 wenza kwinkolelo ukuba ukongeza angiomas ulusu kunye isigulane enesifo amaqokobhe angiomatosis lobuchopho. Makhe sibone ukuba yintoni na syndrome Sturge-Weber-Krabbe, ebangela, iimpawu zesi sifo.

Iimpawu zesi sifo

Esi sifo naso angiomatosis, t. E. ukwanda kakhulu kwemithambo yegazi. Pathology kuchaphazela inkqubo luvo, amalungu ngumbono, isikhumba. Weber syndrome kubonakala angiomas ezininzi iziphene indawo yobuso, glaucoma, sokuwa, ukukhubazeka engqondweni, kunye nezinye iimpawu luvo kunye ocular.

sifo nge ray cranial, MRI okanye CT izakhiwo palsy, imilinganiselo xi intraocular, iimviwo ophthalmoscopic, amehlo ultrasound gonioscopy. Unyango ibandakanya unyango kwangumqondiso kunye antiepileptic kunye neglaucoma endala kwaye iyapheliswa intsumpa. Kwiimeko ezininzi i-ALS ulihlwempu.

oonobangela

Weber syndrome kwenzeka ngenxa sanctions Palsy, kubangele ezonakeleyo ezimbini ngongqameko intsholongwane: ectoderm kunye mesoderm. Kungenxa ngenxa yabo nervous system iqalisa ukuphuhlisa emva kwexesha elithile, eluswini, imithambo yegazi kunye nezibilini wosana.

Izizathu zoku ukusilela inokuba iya kuba yile ilandelayo:

• ukunxila kwabasetyhini abakhulelweyo kunye inicotine, iziyobisi, utywala, iziyobisi ezahlukeneyo;
• usuleleko intrauterine;
• ukunyhashwa dysmetabolic kwi umama okhulelwe.

iimpawu

Xa umntu ene Weber syndrome, iimpawu zesi sifo zinokuba nomahluko. Eyona kubo - angiomatosis isikhumba. Le ibala semithambo kuzo zonke izigulane isegazini, yaye ekuhambeni kwexesha iqala ukunyusa ubukhulu. Ngokufuthi akhiwe nemihlathi phantsi kwamehlo, kunye noxinzelelo iqalisa ukuba luphele. Ekuqaleni, le ndawo inombala pink, ngoko uba icherry ebomvu okanye obomvu eliqaqambileyo.

Angioma zingahluka ukuvela kunye nokwanda kwaye njengoko ezipokothweni ezincinane esichitha-chithwe, kwaye enye indawo enkulu, ukuhlanganisa ulwazi kunye. Angiomatosis uyakwazi yokugubungela pharynx, lweHo- ngeempumlo kunye emlonyeni. Kwiimeko ezininzi (70%) ye zixhaphakile kwemithambo yegazi yenye ivumelene-, kwaye utshintsho angiomas ebusweni-40% zidla kudityaniswe imilenze kunye nomzimba. kunye nezinye iimpawu dermatologic Inokwenzeka: ezithambileyo izihlunu ukudumba, hemangiomas enaso, nevi.

Ukuba kukho urhano ka Weber syndrome, Neurology wabonakalisa sisilonda esidumbileyoesingaphakathi luvo cranial, ngaloo ndlela ebangela yeemoto zemizwa phezu kwelinye icala lomzimba nidus yezifo.

Ngowe-85% amatyala kubantwana abangaphantsi konyaka omnye wabona amentia nevoid nokuphazamiseka convulsive, wabonisa sokuwa Jackson uhlobo, ngexesha apho imilenze zigutyungelwe yi yombono. Sokuwa kukhokelela ukukhubazeka engqondweni, ukukhubazeka engqondweni, kwezinye iimeko, kusenokubakho lesi silima, hydrocephalus.

Ngomhla inxalenye amalungu embonweni angioma zaphawula inwebu nemithambo yamehlo, hemianopsia, heterochromia iris coloboma. Isinye esithathwini izigulane bene neglaucoma kunye, ebangela lokukhanya kwenwebu.

Syndrome Uxilongo of Sturge-Weber

syndrome le ngezifo unesifo kunye luvo, zamehlo, kunye wesikhumba epileptologist.

Doctor kokuhlalutya imbali yezonyango kunye nezikhalazo yesigulane, wathi ubudala xa imiqondiso yokuqala sifo yabonakala. Neemviwo luvo ukuhlola nobuntununtunu nesikhumba izihlunu zomzimba umzimba amandla.

Skull ray ibhaqa iinkalo calcification le uthinte, kunye imisele kabini. Itomography ngekhompyutha yengqondo iyakwazi nomfanekiso indawo kakhulu enkulu. Ukusebenzisa MRI kubonakele izabelo uthinte ukuxozwa, yoma kunye ukonakala wenkqu yobuchopho, ngaphandle ithumba intracerebral, cyst ebuchotsheni.

Electroencephalography imisela iqondo ingqondo umsebenzi bioelectrical kwaye icwangcisa Epiactivity. iimviwo Ophthalmologic kukuvavanya acuity ezibonwayo, imilinganiselo uxinzelelo intraocular, eqhuba perimetry, gonioscopy, ophthalmoscopy, biometry ultrasound AB-scan namehlo.

Lidla isigulane sithunyelwa ukuba ezingxoxo yemfuzo zonyango.

unyango

Ukuba Weber syndrome banesifo, unyango kufuneka lingaze kuphela. Oku kuthetha ukuba ancede emikhuhlaneni kubonakaliswa sifo, leyo imoshe ubomi bakhe, njengoko wonyango olusebenzayo yakuwela.

Uthomalaliso kwenziwa ngolu hlobo lulandelayo:

• ukuphelisa iimpawu umoya, ugqirha imisela ucwangciso olukhethekileyo "Valproate" "Depakine", "Keppra", "carbamazepine", "Finlepsin" "Topiramate";
• ukuba izifo akhoyo endalo engqondweni nangokweemvakalelo, ezimiselweyo iziyobisi psychotropic;
• ngokuba ukunyanga iglaucoma agalelwa usebenzisa wamehlo leyo ukunciphisa secretion intraocular fluid "Timolol", "Azopt", "Alfagan", "Dorzolamide" kunye nabanye.

Ukuba ngaba le angioma ukhakhayi kwisisu kuchaphazela kakubi ukusebenza komzimba, wenza utyando ukuze ususe kubo.

Outlook

Okubuhlungu kukuba, izifo ezifana Weber syndrome, uye abane olihlwempu. Iingxaki alandelayo kwenzeke:

• ukulahleka umbono;
• ukuphazamiseka semithambo, kukhokelele kuphuhliso ngesibetho;
• isiphako ngokukhawuleza kakhulu phezu kobuso, engaquki ngesiqhelo nokuzibuyisela eluntwini kwaye zehlisa kakhulu ukuzithemba;
• ukuxhuzula negalelo ukukhubazeka kakhulu engqondweni.

Nawaphi na amanyathelo othintelo ukuthintela ukunwenwa kwesi sifo, hayi, kuba unobangela ngqo esi sifo okwangoku iboniwe.

isiphelo

Ngenxa yoko, Weber syndrome - isifo esiyingozi naso. iintsana ezisanda kuzalwa ekuqaleni ukuphuhlisa ngokuqhelekileyo, kodwa ekupheleni konyaka wokuqala wobomi kukho sokuwa. Lidla lisasalele emva kuphuhliso omzimba, yaye emva kwethutyana na ukukhubazeka engqondweni. Esi sifo asikuko nokuba kuyabulala, ingathatha kuphela amayeza abakukhusela ziyonakala impilo.