Qee lub sij hawm yug me nyuam overshadows qhov kev kuaj mob los ntawm kws kho mob - "Sturge-Weber-Crabbe syndrome". Qhov no yog qhov tsis tshua muaj tshwm sim angiomatous lesion ntawm lub qhov muag, tawv nqaij thiab cerebral daim nyias nyias. Tus mob no tshwm sim hauv 1 ntawm 100,000 tus neeg. Tus mob no tau piav qhia thawj zaug los ntawm Sturge xyoo 1879, thiab xyoo 1922 Weber tau pom cov cim qhia los ntawm X-rays.
Krabbe hauv xyoo 1934 tau hais tias nrog rau angiomas ntawm daim tawv nqaij, tus neeg mob kuj raug kev txom nyem los ntawm angiomatosis ntawm lub paj hlwb. Cia peb sim nrhiav seb tus mob Sturge-Weber-Crabbe yog dab tsi, qhov ua rau, cov tsos mob ntawm tus kab mob no.
Tus yam ntxwv ntawm tus kab mob
Tus mob no yog ib qho mob angiomatosis congenital, piv txwv li kev nthuav tawm ntau dhau ntawm cov hlab ntsha. Pathology cuam tshuam rau hauv nruab nrab paj hlwb, kab mob ntawm lub zeem muag, daim tawv nqaij. Weber's syndrome yog tshwm sim los ntawm ntau qhov congenital angiomas ntawm lub ntsej muag, glaucoma, qaug dab peg, hlwb retardation, thiab lwm yam ophthalmological thiab neurological tsos mob.
Tus kab mob no tau kuaj pom siv xoo hluav taws xob ntawm pob txha taub hau, MRI lossis CT ntawm lub paj hlwb, ntsuas qhov siab ntawm lub paj hlwb, ophthalmoscopy, ultrasound ntawm lub qhov muag, gonioscopy. Kev kho mob muaj antiepileptic thiab symptomatic therapy, thiab glaucoma yog tshem tawm conservatively thiab phais. Feem ntau, qhov kev cia siab tsis zoo.
Kev tshwm sim
Weber's syndrome tshwm sim vim kev ua txhaum ntawm embryonic txoj kev loj hlob, vim tias ob txheej kab mob puas lawm: lub ectoderm thiab mesoderm. Nws yog los ntawm lawv tias, tom qab ib ntus, lub paj hlwb, daim tawv nqaij, cov hlab ntsha thiab cov khoom nruab nrog cev ntawm tus menyuam pib tsim.
Qhov laj thawj ntawm qhov ua tsis tiav no yuav yog raws li hauv qab no:
- kev qaug rau lub cev ntawm tus poj niam cev xeeb tub nrog nicotine, tshuaj, cawv, tshuaj ntau yam;
- fetal infections;
- dysmetabolic ntshawv siab nyob rau hauv lub cev ntawm leej niam expectant.
Symptoms
Yog tias ib tus neeg tau kuaj pom tias muaj tus mob Weber, cov tsos mob ntawm tus kab mob no yuav txawv. Qhov tseem ceeb yog angiomatosis ntawm daim tawv nqaij ntawm lub ntsej muag. Qhov chaw vascular no hauv txhua tus neeg mob yog congenital, thiab thaum lub sijhawm nws pib loj tuaj. Feem ntau nyob rau hauv lub cheekbones thiab nyob rau hauv lub qhov muag, thiab thaum nias, nws pib tig daj ntseg. Thaum pib, qhov stain muaj xim liab, tom qab ntawd nws tau txais cov xim liab-txiv kab ntxwv lossis ci liab hue.
Angiomas tuaj yeem sib txawv ntawm qhov tsos thiab nthuav dav thiab yogme me tawg ntho foci, thiab ib qho chaw loj, sib koom ua ke. Angiomatosis tuaj yeem npog lub pharynx, qhov ntswg thiab qhov ncauj. Feem ntau (70%), vascular proliferation yog unilateral, thiab nyob rau hauv 40% ntawm cov kev hloov ntawm lub ntsej muag yog feem ntau ua ke nrog angiomas ntawm lub extremities thiab pob tw. Lwm cov tsos mob dermatological kuj tuaj yeem tshwm sim: cov nqaij mos edema, congenital hemangiomas, nevi.
Yog tias xav tias Weber's syndrome, neurology yog tshwm sim los ntawm kev puas tsuaj rau lub paj hlwb, ua rau lub cev muaj zog thiab hnov mob ntawm sab nraud ntawm lub cev los ntawm kev ua kom pom tseeb.
Nyob rau hauv 85% ntawm cov menyuam yaus ntawm thawj xyoo ntawm lub neej, encephalotrigeminal angiomatosis nrog convulsive syndrome tau pom, tshwm sim los ntawm kev qaug dab peg ntawm hom Jacksonian, thaum lub sij hawm cov ceg ceg tau npog nrog convulsions. Kev qaug dab peg feem ntau ua rau oligophrenia, kev puas siab puas ntsws, qee zaum, idiocy, hydrocephalus tuaj yeem pom.
Ntawm ib feem ntawm lub cev ntawm lub zeem muag, angiomas ntawm choroid, hemianopsia, heterochromia ntawm iris, colobomas tau pom. Ib feem peb ntawm cov neeg mob tau kuaj pom tias muaj glaucoma, uas ua rau pos huab ntawm lub cornea.
Kev kuaj mob ntawm Sturge-Weber Syndrome
Tus mob ntawm cov kab mob no tau kuaj pom ua ke los ntawm kws kho mob hlwb, kws kho qhov muag, kws kho mob epilepologist thiab kws kho mob dermatologist.
Tus kws kho mob, tshuaj xyuas keeb kwm ntawm tus kab mob thiab tus neeg mob cov lus tsis txaus siab, qhia txog lub hnub nyoog thaum cov tsos mob tshwm sim thawj zaug. Cov tawv nqaij rhiab heev raug soj ntsuam los ntawm kev kuaj mob neurologic althiab cov leeg muaj zog ntawm cov ceg tawv ntawm lub cev.
X-ray ntawm pob txha taub hau qhia txog thaj chaw ntawm calcification ntawm cortex nrog ob chav contours. Kev suav tomography ntawm lub hlwb muaj peev xwm pom tau ntau qhov chaw loj. MRI nthuav tawm thaj chaw ntawm cortical thinning, degeneration thiab atrophy ntawm cerebral tshuaj, tsis suav nrog intracerebral qog, cerebral cyst.
Electroencephalography txiav txim siab qib ntawm bioelectrical kev ua haujlwm ntawm lub hlwb thiab tsim kom muaj epiactivity. Kev kuaj mob ophthalmological muaj xws li kev kuaj pom qhov pom, ntsuas qhov ntsuas qhov ntsuas, perimetry, gonioscopy, ophthalmoscopy, AV scanning thiab ultrasound biometry ntawm lub qhov muag.
Ntau zaus, tus neeg mob raug xa mus rau kev sab laj nrog kws kho mob caj ces.
Kev kho mob
Yog tias Weber's syndrome raug kuaj pom, kev kho mob yuav tsum yog cov tsos mob nkaus xwb. Qhov no txhais tau hais tias tus neeg mob tau txais txiaj ntsig zoo ntawm qhov tshwm sim ntawm pathology uas ua rau nws lub neej tsis zoo, vim tam sim no tsis muaj kev kho mob zoo.
Kho tau ua raws li hauv qab no:
- txhawm rau tshem tawm qhov tshwm sim ntawm qhov tsis txaus ntseeg, tus kws kho mob tau sau tshuaj tshwj xeeb: Valproate, Depakin, Keppra, Carbamazepine, Finlepsin, Topiramate;
- yog tias muaj kev puas siab puas ntsws, muaj cov tshuaj psychotropic;
- Rau kev kho mob glaucoma, cov tee dej yog siv los txo cov kua dej hauv lub cev: Timolol, Azopt, Alphagan, Dorzolamide thiab lwm yam.
Yog hais tias angiomas nyob rau hauv lub cranial kab noj hniav cuam tshuam rau kev ua hauj lwm ntawm lub cev, kev phais yuav tsum tau ua kom tshem tawm lawv.
Huab cua
Tu siab, kab mob xws li Weber's syndrome muaj qhov tsis zoo. Cov teeb meem hauv qab no tuaj yeem tshwm sim:
- pom kev poob;
- kab mob vascular ua rau mob stroke;
- hais lus tsis xws luag ntawm lub ntsej muag, uas tsis tso cai rau ib tug mus yoog raws li ib txwm nyob rau hauv lub zej zog thiab ho txo nws tus kheej;
- qaug dab peg ua rau muaj kev puas hlwb loj heev.
Tam sim no tsis muaj kev tiv thaiv los tiv thaiv kev txhim kho ntawm tus kab mob no, vim qhov tseeb ntawm cov kab mob tseem tsis tau txheeb xyuas.
Zoo kawg
Yog li, Weber's syndrome yog ib yam kab mob hauv lub cev txaus ntshai heev. Cov menyuam mos yug tshiab feem ntau tshwm sim thaum xub thawj, tab sis kev qaug dab peg tshwm sim thaum kawg ntawm thawj xyoo ntawm lub neej. Feem ntau muaj kev lag luam hauv kev loj hlob ntawm cov ceg, thiab tom qab ib ntus kev puas hlwb tshwm sim. Tus kab mob no kho tsis tau, tsuas yog noj tshuaj xwb tsis pub noj qab haus huv.
