Weber-Krabbe syndrome: take, tohu me ngā āhuatanga maimoatanga

I te tahi taime kapua whanau tātaritanga e mau taote - "syndrome Sturge-Weber-Krabbe". Ko te kiriuhi angiomatous congenital onge mate kanohi, kiri, me te roro tenei. Puta tenei mate i roto i te kotahi te tangata ia 100,000. Hoki te wa tuatahi, kua tenei syndrome kua whakaahuatia Sturgeon i 1879, a i roto i 1922, whakaahuatia Weber nga tohu kitea i roto i X-hihi.

Krabbe i 1934 i hanga te whakaaro e roto i tua ki te angiomas kiri me te manawanui mamae i anga angiomatosis kaka. Kia tamata o ki te feruri i roto i te mea ko te syndrome Sturge-Weber-Krabbe, ai, tohu o tenei mate.

Āhuatanga o te mate

Tenei syndrome Ko te tini nui congenital angiomatosis, t. E. o oko toto. pānga māuiuitanga te pūnaha io pokapū, whēkau o kite, kiri. Weber syndrome faaite maha angiomas congenital rohe kanohi, papahewa, haurangi, te retardation hinengaro, me ētahi atu tohu neurological me ocular.

Pāngia mate mā Radiography cranial, MRI CT ranei hanganga kaka, inenga o te pēhanga intraocular, whakamātautau ophthalmoscopic, kanohi ultrasound gonioscopy. Kei te maimoatanga o te therapy symptomatic me antiepileptic me papahewa momo, me te whakakorea hāparapara. I roto i te nuinga o te wā he rawakore te waitohunga.

take o

puta Weber syndrome tika ki maumaui o te whanaketanga fetal, hua i roto i pakaru e rua ngā papa te tupuranga: ectoderm me te kiriwai. Ko reira no te mea o ratou tīmata te pūnaha io ki te whakawhanake i te tahi wa, te kiri, oko toto me whekau o te tamaiti i muri i.

Ko te take hoki pea i te whai ake i tēnei te kore:

• haurangi o nga wahine hapu ki nikotīni, taero, te ava, ngā taero;
• mate intrauterine;
• maumaui dysmetabolic i roto i te whaea expectant.

tohu

Ki te pāngia tetahi tangata ko Weber syndrome, kia rerekē nga tohu o tenei mate. Ko te matua o ratou - angiomatosis kiri. Tenei poke ia iaia mō ngā tūroro katoa he kowhatu, a mo te wā tīmata reira ki te whakapiki ake i roto i te rahi. Nuinga o ngā wā kei roto i te paparinga, me raro i te kanohi, a ka ki haamata te pēhanga ki te memeha. I roto i te timatanga, te wahi kua he tae māwhero, ka riro here whero whero kanapa ranei.

Ka taea e Angioma rerekē te ahua me te nuinga, me te he rite whitiki iti noa, a kotahi wahi nui, hanumi tahi. Angiomatosis taea ki te taupoki ana i te pharynx, te kōhao nasal me te mangai. I roto i te nuinga o te wā (70%) o te tini o oko toto ko tapa-kotahi, me te huringa 40% i roto i angiomas kanohi e te nuinga o ngā ki nga wahi, me te kātua. a kia puta atu tohu dermatologic: ngawhatanga kiko ngohengohe, hemangiomas congenital, nevi.

Ki te reira te mea he māharahara o Weber syndrome, whakakitea Neurology lesion raru cranial, reira meinga nekeneke me whakararuraru rongo i te taha ritenga o te tinana nidus pathological.

I roto i te 85% o ngā take i roto i ngā tamariki i raro i te kotahi tau kitea amentia nevoid ki disorders takiri, whakakitea haurangi haurangi momo Jackson, i roto i nei hipoki te wahi e e haehae. maha Epilepsy arata'i ki te retardation hinengaro, retardation hinengaro, i roto i ētahi wā, i reira kia kia he pōrangi, wairoro.

I runga i te wahi o nga whekau o whakakitenga he angioma i kitea ai kiriuhi iaia o nga kanohi, hemianopsia, heterochromia o te coloboma iris. Ko tētahi-toru o tūroro pāngia ki papahewa, meinga Āheiō Corneal.

Syndrome tātaritanga o Sturge-Weber

syndrome pāngia tenei māuiuitanga te huihui toketā neave, ophthalmologist, me dermatologist epileptologist.

Doctor tātari hītori hauora me amuamu a te manawanui, ka mea te tau, ka puta mai nga tohu tuatahi o te mate. Ki te whakamātautau neurological aromatawai te tūtohutanga o te kiri, me te uaua pito tinana kaha.

kitea angaanga Radiography wāhanga o calcification o te uho, ki takiwa rua. tomography computed o te roro taea ki te sioloto te wāhi nui nui ko te. Mā te MRI kitea wahi uho hahore, atrophy me te tupu o taonga haaparuparu, hāunga puku intracerebral, whēwhē kaka.

Electroencephalography whakatau te tohu o te roro mahi bioelectrical me whakatakoto ana Epiactivity. whakamātautau Ophthalmologic ko ki te whakamātau i acuity ataata, inenga pēhanga intraocular, whakahaere perimetry, gonioscopy, ophthalmoscopy, AB-scan biometry ultrasound me kanohi.

Tino maha, ka tonoa te manawanui kei hoki kōrero ki te iranga hauora.

maimoatanga

Ki te pāngia Weber syndrome te, kia kia symptomatic anake maimoatanga. Tenei te tikanga e relieves te manawanui i taua faaiteraa o mate, e te tu'ino i tona ora, hei maimoatanga whai hua vai tēnei wā.

whakahaere therapy te rite e whai ake nei:

• ki te whakakore tohu apnea, whakatakoto te tākuta taka motuhake "Valproate" "Depakine", "Keppra", "carbamazepine", "Finlepsin" "Topiramate";
• ki te disorders reira o te natura hinengaro, me te aronganui, whakaritea taero psychotropic;
• mo te maimoatanga o te papahewa te whakamahi i kanohi makaka e whakaiti secretion inu intraocular "Timolol", "Azopt", "Alfagan", "Dorzolamide" me etahi atu.

Ki te mea ko koe i roto i te angioma angaanga kōhao tino pā te mahi o te tinana, i mahi pokanga ki te tango ia ratou.

outlook

Ko e me'a fakamamahí, pērā mate rite Weber syndrome, kua he waitohunga rawakore. Ka taea e te pōauautanga e whai ake nei tupu:

• mate o te kite;
• disorders iaia, ārahi ki te whanaketanga o te patu;
• koha rawa korerotia i runga i te mata, e kore nei e te tikanga tuitui ki te hapori, me te tino Whakahekea kiritau-;
• whai wāhi haurangi ki kino retardation hinengaro.

Tetahi mehua ārai ki te ārai i te whanaketanga o tenei mate, e kore, no te mea te take tangohia o te mate kua kore ano i tāutuhia.

mutunga

Ko te kupu, Weber syndrome - he mate congenital kino. tamariki whanau hou tuatahi whakawhanake tikanga, engari i te mutunga o te tuatahi o nga tau o te ora i reira he haurangi haurangi. E mea pinepine te ërä reira i muri i roto i te whanaketanga o wahi, a i muri i te i reira he retardation hinengaro. Tenei mate e kore e mahu, e taea te tango rongoā i taua whenua kei taumaha hauora anake.