Weber-Krabbe syndrome: ua, cov tsos mob thiab kev kho mob nta

Tej zaum yug huab mob los ntawm cov kws kho mob - "Sturge-Weber-Krabbe syndrome". Qhov no yog ib tug tsis tshua congenital angiomatous qhov muag kab mob, daim tawv nqaij thiab lub hlwb week. Tus kab mob no tshwm sim nyob rau hauv ib tug neeg ntawm 100,000 tus. Rau cov thawj lub sij hawm, qhov no syndrome tau piav Sturgeon nyob rau hauv 1879, thiab nyob rau hauv 1922, Weber piav cov tsos mob kuaj thaum lub sij hawm X-rays.

Krabbe nyob rau hauv 1934 ua tus assumption tias nyob rau hauv tas li ntawd mus rau lub daim tawv nqaij angiomas thiab tus neeg mob suffers los ntawm cerebral angiomatosis zoo li. Wb sim kom paub tseeb dab tsi yog qhov syndrome Sturge-Weber-Krabbe, ua rau, cov tsos mob ntawm tus kab mob no.

Nta ntawm tus kab mob no

Qhov no syndrome yog ib tug congenital angiomatosis, t. E. ntev loj hlob ntawm cov hlab ntsha. Pathology muaj feem xyuam rau lub hauv paus poob siab system, kabmob uas tsis pom kev, daim tawv nqaij. Weber syndrome manifests ntau congenital angiomas lub ntsej muag cheeb tsam, glaucoma, qaug dab peg, hlwb ruamqauj, thiab lwm yam neurological thiab ocular cov tsos mob.

Thiaj paub hais tias tus kab mob ntawm cranial radiography, MRI los yog CT cerebral lug, kev ntsuas ntawm intraocular siab, ophthalmoscopic xeem, ultrasound ob lub qhov muag gonioscopy. Cov kev kho mob muaj symptomatic txoj kev kho thiab antiepileptic thiab glaucoma conservative thiab yog tshem tawm surgically. Nyob rau hauv feem ntau qhov raug yog neeg pluag.

ua rau

Weber syndrome tshwm sim vim rau kev ua txhaum ntawm me nyuam hauv plab kev loj hlob, uas ua nyob rau hauv puas ob kab khaubncaws sab nraud povtseg: ectoderm thiab mesoderm. Nws yog vim hais tias ntawm lawv cov paj hlwb pib los tsim tom qab ib co sij hawm, daim tawv nqaij, cov hlab ntsha thiab hauv nruab nrog cev ntawm tus me nyuam.

Yog vim li cas rau qhov no tsis ua hauj lwm tej zaum yuav raws li nram no:

• intoxication ntawm cev xeeb tub cov poj niam nrog nicotine, tshuaj, dej cawv, ntau yam tshuaj;
• intrauterine kab mob;
• dysmetabolic ua txhaum nyob rau hauv lub expectant niam.

cov tsos mob

Yog hais tias ib tug neeg thiaj paub tias yog Weber syndrome, cov tsos mob ntawm tus kab mob no tej zaum yuav txawv. Lub ntsiab ntawm lawv - angiomatosis daim tawv nqaij. Qhov no vascular stain rau tag nrho cov neeg yog innate, thiab thaum lub sij hawm nws pib nce nyob rau hauv loj. Feem ntau cov feem ntau nyob rau hauv lub puab tsaig thiab nyob rau hauv lub ob lub qhov muag, thiab nrog siab pib ploj mus. Nyob rau hauv thaum pib, lub chaw muaj ib tug liab xim, ces yuav liab lws suav los yog liab.

Angioma yuav txawv cov tsos thiab loj heev thiab muaj raws li me me tawg twb, thiab ib tug loj chaw, phiajcim ua ke. Angiomatosis tau them rau cov caj pas, lub qhov ntswg kab noj hniav thiab lub qhov ncauj. Nyob rau hauv feem ntau (70%) ntawm loj hlob ntawm cov hlab ntsha yog ib tug-tog, thiab ib tug 40% hloov nyob rau hauv lub ntsej muag angiomas no feem ntau yog ua ke nrog tus ceg ntoo thiab lub cev. thiab lwm yam dermatologic cov tsos mob tej zaum yuav tshwm sim: nqaij mos o, congenital hemangiomas, nevi.

Yog hais tias muaj yog ib tug suspicion ntawm Weber syndrome, kev kawm txoj tib neeg lub hlwb manifested lesion cranial qab haus huv, li no yuav ua tau rau lub cev muaj zog thiab piav thoob hlo teeb nyob rau sab nraud ntawm lub cev pathological nidus.

Nyob rau hauv 85% ntawm cov neeg nyob rau hauv cov me nyuam nyob rau hauv ib xyoos cai nevoid amentia nrog convulsive mob, manifested epileptic qaug dab peg Jackson hom, thaum lub sij hawm uas tus nqua yog them los ntawm convulsions. Qaug dab peg feem ntau ua rau hlwb ruamqauj, hlwb ruamqauj, nyob rau hauv tej rooj plaub, tej zaum yuav muaj ib tug ruam, hydrocephalus.

Nyob rau hauv ib feem ntawm tus kabmob uas tsis pom kev yog cai angioma vascular daim nyias nyias ntawm lub qhov muag, hemianopsia, heterochromia ntawm lub iris coloboma. Ib feem peb ntawm cov neeg mob mob glaucoma, ua corneal opacity.

Syndrome kuaj ntawm Sturge-Weber

syndrome no pathology thiaj paub tias yog ua ke neurologist, ophthalmologist, thiab epileptologist dermatologist.

Tus kws kho mob cais kho mob yav dhau los thiab tus neeg mob kev tsis txaus siab, hais tias lub hnub nyoog thaum thawj cov cim qhia ntawm tus kab mob nyob. Nrog neurological xeem ntsuam xyuas rhiab heev ntawm daim tawv nqaij thiab nqaij muaj zog lub cev extremities.

Taub hau me ntsis radiography no qhov chaw ntawm calcification ntawm lub Cortex, nrog ob nkhaus. Xoo tomography ntawm lub paj hlwb yog tau pom ib tug loj npaum li cas cheeb tsam. Siv MRI kuaj feem cortex thinning, Atrophy thiab degeneration ntawm cerebral tshuaj, tsis suav intracerebral qog, cerebral cyst.

Electroencephalography txiav txim seb tus neeg kawm ntawv uas lub hlwb bioelectrical kev ua si thiab teev Epiactivity. Ophthalmologic xeem yog mus ntsuam xyuas pom tau qhov sib pom tseeb tseeb, intraocular siab ntsuam, kev perimetry, gonioscopy, ophthalmoscopy, AB-scan ultrasound biometry thiab ob lub qhov muag.

Heev feem ntau, tus neeg mob yog xa rau kev sib tham rau cov kev kho mob noob caj noob ces.

kev kho mob

Yog hais tias Weber syndrome yog kuaj mob, kev kho mob yuav tsum tsuas yog symptomatic. Qhov no txhais tau tias relieves tus neeg mob los ntawm tej ces ntawm tus kab mob, uas tsis tau nws lub neej, raws li ib txoj kev kho tam sim no tshwm sim.

Therapy yog ua raws li nram no:

• mus tshem tawm apnea cov tsos mob, cov kws kho mob prescribes tshwj xeeb npaj "Valproate" "Depakine", "Keppra", "carbamazepine", "Finlepsin" "Topiramate";
• Yog hais tias tam sim no mob hlwb thiab lub siab lub ntsws xwm, tshuaj psychotropic tshuaj;
• rau cov kev kho mob ntawm glaucoma siv qhov muag dauv uas txo intraocular kua secretion "Timolol", "Azopt", "Alfagan", "Dorzolamide" thiab lwm tus neeg.

Yog hais tias koj yog nyob rau hauv lub pob txha taub hau kab noj hniav angioma tiag muaj feem xyuam rau cov hauj lwm ntawm lub cev, ua phais tshem lawv.

outlook

Sadly, xws kab mob raws li Weber syndrome, muaj ib tug neeg txom nyem raug. Cov nram qab no mob yuav tshwm sim:

• tsis pom kev;
• vascular mob, ua rau txoj kev loj hlob ntawm stroke;
• heev pronounced defect ntawm lub ntsej muag, uas tsis nquag integrate mus rau hauv lub neej thiab ho txo nws tus kheej-kheej;
• qaug dab peg pab mus rau mob hnyav hlwb ruamqauj.

Tej kev tiv thaiv kom tsis txhob loj hlob ntawm tus kab mob no, tsis muaj, vim hais tias lub caij nyoog ua ntawm tus kab mob twb tsis tau lawm tias.

xaus

Yog li, Weber syndrome - ib tug txaus ntshai congenital kab mob. Me nyuam mos cov me nyuam mos chiv tsim feem ntau sib xws, tab sis nyob rau thaum xaus ntawm thawj xyoo ntawm lub neej muaj epileptic qaug dab peg. Feem ntau nws yog lagging qab nyob rau hauv txoj kev loj hlob ntawm nqua, thiab tom qab ib tug thaum muaj kev puas hlwb ruamqauj. Tus kab mob no yog incurable, tsuas noj cov tshuaj uas tiv thaiv deteriorating noj qab haus huv.