Weber-Krabbe syndrome: zimayambitsa, zizindikiro ndi mbali chithandizo

Nthawi zina mitambo kubadwa matenda ndi madokotala - "Sturge-Weber-Krabbe syndrome". Izi ndi osowa kobadwa nako angiomatous matenda diso, khungu ndi ubongo zimagwira ntchito zosiyanasiyana. matenda kumachitika munthu pa 100,000. Kwa nthawi yoyamba, syndrome wakhala anafotokoza Sturgeon mu 1879, ndipo mu 1922, Weber anafotokoza zizindikiro wapezeka pa X-ray.

Krabbe mu 1934 anapanga kopanda kuti kuwonjezera pa angiomas khungu ndi mtima amadwala zipolopolo oziziritsa angiomatosis. Tiyeni tiyese kuti adzaone zomwe ndi matenda Sturge-Weber-Krabbe, amachititsa, zizindikiro za matenda.

Features matendawa

syndrome Izi ndi kobadwa nako angiomatosis, T. E. Kugwiritsa kuchuluka kwa mitsempha. Kudwala amakhudza dongosolo chapakati mantha, ziwalo masomphenya, khungu. Weber syndrome kuwawonetsera angiomas ambiri kobadwa nako m'dera nkhope, khungu, khunyu, retardation maganizo, ndi zizindikiro zina ubongo ndi ocular.

Matenda matenda kudzera radiography cranial, Kujambula kapena CT nyumba oziziritsa, muyeso wa kuthamanga intraocular, mayeso ophthalmoscopic, ultrasound maso gonioscopy. Mankhwalawa imakhala mankhwala symptomatic ndi antiepileptic ndi khungu ndiwofatsa komanso likuchotsedwa opaleshoni. Nthawi zambiri kuti madokotala ananena zawo ndi osauka.

zimayambitsa

Weber syndrome kumachitika chifukwa kuyan'anila za chitukuko yoopsa, chifukwa mu kuonongeka awiri zigawo nyongolosi: ectoderm ndi mesoderm. Ndi chifukwa iwo mantha dongosolo wayamba kukhala patapita kanthawi, khungu, mitsempha ya magazi ndi ziwalo za mwanayo.

Chifukwa cholephera zingakhale zotsatirazi:

• Kuledzela za amayi apakati ndi chikonga, mankhwala, mowa, mankhwala osiyanasiyana;
• intrauterine matenda;
• kuyan'anila dysmetabolic mu mayi woyembekezera.

zizindikiro

Ngati munthu wodwala matenda syndrome Weber, zizindikiro za matenda angakhale osiyana. Waukulu wa iwo - angiomatosis khungu. Izi banga mtima odwala onse ndi titadziwa, ndipo pa nthawi zimayamba kuwonjezera kukula. Nthawi zambiri imapezeka masaya ndi pansi pa maso, ndi kuthamanga amayamba kutha. Pachiyambi, malo ali ndi mtundu pinki, ndiye chimakhala wofiira chitumbuwa kapena wofiira yowala.

Angioma siyana maonekedwe ndi kuchuluka ndipo ngati matumba yaing'ono anamwazikana, ndi wina banga lalikulu, merging pamodzi. Angiomatosis akhoza kuphimba pharynx, ndi m'mphuno ndi m'kamwa mwake. Nthawi zambiri (70%) cha kuchuluka kwa mitsempha imodzi kumbali, ndi kusintha 40% mu angiomas nkhope zambiri pamodzi ndi miyendo ndi thunthu. ndi zizindikiro zina dermatologic kumachitika: minofu zofewa kutupa, kobadwa nako hemangiomas, nevi.

Ngati pali kukayikitsa syndrome Weber, ubongo akuwonetseredwa chotupa cranial misempha, potero kupangitsa galimoto ndi zipolowe kwenikweni pa mbali ina ya thupi pathological nidus.

Mu 85% ya milandu ya ana osaposa chaka chimodzi anati nevoid amentia ndi matenda convulsive, akuwonetseredwa khunyu khunyu Jackson mtundu, imene nthambi okutidwa ndi zopweteka. Khunyu nthawi zambiri kumayambitsa retardation maganizo, retardation maganizo, zina, pakhoza kukhala chitsiru, hydrocephalus.

Pa mbali ya ziwalo masomphenya ali ananena angioma mtima nembanemba cha maso, hemianopsia, heterochromia wa Iris coloboma. Gawo limodzi la odwala matenda ndi glaucoma, kuchititsa corneal Kuwonekera.

Syndrome matenda a Sturge-Weber

syndrome kudwala izi amawapeza pamodzi katswiriyu, maso, ndi epileptologist dermatologist.

Doctor kusanthula mbiri zachipatala ndi madandaulo wodwalayo, anati m'badwo pamene zizindikiro woyamba wa matenda anaonekera. Ndi Kupenda ubongo kuwunika tilinazo khungu ndi minofu mphamvu thupi m'makona.

Chibade radiography detects malo a calcification wa kotekisi, ndi contours awiri. Yopangidwa tomography ubongo akhoza udzakhalire dera wokulirapo. Kugwiritsa Kujambula wapezeka mbali kotekisi kupatulira, manja ndi alibe zinthu oziziritsa, kupatulapo intracerebral chotupa chotupa muubongo.

Electroencephalography Mzimuyo mlingo wa ubongo bioelectrical ntchito ndi kuyika Epiactivity. Ophthalmologic tione kuyesa zithunzi acuity, miyezo intraocular kuthamanga, kuchititsa perimetry, gonioscopy, ophthalmoscopy, AB-jambulani ultrasound biometry ndi maso.

Nthawi zambiri, mtima uli anatumiza upo kwa chibadwa zachipatala.

chithandizo

Ngati matenda Weber amawapeza, mankhwala ayenera kukhala symptomatic yekha. Izi zikutanthauza kuti relieves wodwalayo kusonyeza matenda, zomwe kusokoneza moyo wake, monga mankhwala panopa alipo.

Therapy wochititsidwa motere:

• kuthetsa zizindikiro apnea, dokotala n'kukulemberani kukonzekera mwapadera "Valproate", "Depakine", "Keppra", "carbamazepine", "Finlepsin" "Topiramate";
• ngati matenda alipo zachilengedwe maganizo, Kwalamulidwa mankhwala psychotropic;
• zochizira khungu ntchito m'maso zomwe kuchepetsa intraocular madzimadzi katulutsidwe "Timolol", "Azopt", "Alfagan", "Dorzolamide" ndi ena.

Ngati muli mu chigaza M'mimbamo angioma kwambiri bwanji kugwira ntchito kwa thupi, opaleshoni kuchotsa iwo.

kaonedwe

N'zomvetsa chisoni kuti matenda monga matenda Weber, ali ndi madokotala ananena zawo osauka. Mavuto otsatirawa angayambe:

• imfa ya masomphenya;
• matenda mtima, zikubweretsa chitukuko cha sitiroko;
• kutchulidwa kwambiri chilema pa nkhope, zomwe sayenera cigawo ku anthu ndipo kwambiri Sachita kudzidalira;
• khunyu zimathandiza kuti chaukali retardation maganizo.

miyeso iliyonse njira kupewa chitukuko cha matenda, ayi, chifukwa chifukwa chenicheni cha matenda silinakwaniritsidwe sakudziwika.

Pomaliza

Choncho, Weber syndrome - loopsa kobadwa nako matenda. makanda poyamba bwinobwino, koma kumapeto kwa chaka choyamba cha moyo pali khunyu khunyu. Kawirikawiri izo zomwe zikutsalirazi kumbuyo chitukuko cha miyendo, ndipo patapita kanthawi pali maganizo retardation. matenda osachiritsika, akhoza kokha kutenga mankhwala kuti kuteteza kudwala.