Weber-Krabbe syndrome: akpata, mgbaàmà na ọgwụgwọ atụmatụ

Mgbe ụfọdụ, nwa n'ígwé ojii nchoputa site dọkịta - "Sturge-Weber-Krabbe syndrome". Nke a bụ a obere congenital angiomatous ọrịa anya, anụ na ụbụrụ membranes. Ọrịa a pụtara na otu onye kwa 100,000. N'ihi na oge mbụ, a syndrome kọwawo Sturgeon na 1879, na 1922, Weber kọwara mgbaàmà achọpụtara n'oge X-ụzarị.

Krabbe na 1934 mere ọtụtụ ndị chere na na mgbakwunye na nke anụ ahụ angiomas na onye ọrịa na-ata ahụhụ si na-arịa ọrịa angiomatosis shells. Ka anyị gbalịa ịghọta ihe bụ syndrome Sturge-Weber-Krabbe, na-akpata, ihe mgbaàmà nke ọrịa a.

Atụmatụ nke ọrịa

Nke a syndrome bụ a congenital angiomatosis, t. E. Oké proliferation nke ọbara arịa. Pathology emetụta Central ụjọ usoro, akụkụ nke ọhụụ, anụ. Weber syndrome egosipụta ọtụtụ congenital angiomas ọdịdị ihu ebe, glaucoma, àkwụkwụ,-eme iberibe, na ndị ọzọ na akwara ozi na ocular mgbaàmà.

Chọpụtara ọrịa via cranial radiography, MRI ma ọ bụ CT ụbụrụ akụkụ, n'ihe nke intraocular nsogbu, ophthalmoscopic ule, ultrasound anya gonioscopy. The ọgwụgwọ mejupụtara symptomatic ọgwụ na antiepileptic na glaucoma mgbanwe na na-tutu amama surgically. Ọtụtụ mgbe na prognosis bụ ogbenye.

akpata

Weber syndrome emee n'ihi imebi nke nwa ebu n'afọ na mmepe, na-akpata-abaghị uru abụọ ngidịrigi izizi: ektodamụ na mesodamụ. Ọ bụ n'ihi na nke ha na ụjọ usoro amalite ịzụlite mgbe oge ụfọdụ, ikpa, ọbara arịa na esịtidem akụkụ nke nwa.

Ihe mere nke a ọdịda nwere ike ịbụ ndị na-esonụ:

• mmenaanya nke ime ndị inyom na nicotine, ọgwụ ọjọọ, mmanya, dị iche iche ọgwụ ọjọọ;
• intrauterine ọrịa;
• dysmetabolic imebi na Nwanyị.

mgbaàmà

Ọ bụrụ na mmadụ na-chọpụtara Weber syndrome, ihe mgbaàmà nke ọrịa a nwere ike dị iche iche. Isi nke ha - angiomatosis akpụkpọ. Nke a vaskụla Unyi niile ọrịa bụ ebum pụta ụwa, ka oge na ọ na-amalite ntọt ke size. Ọtụtụ mgbe emi odude ke cheeks na n'okpuru anya, na na mgbali amalite ịjụ oyi. Ná mmalite, na ntụpọ nwere a pink agba, ahụ na-aghọ red cherry ma ọ bụ na-egbuke egbuke red.

Angioma nwere ike ịdị iche iche ọdịdị ma na-agbasa na na-dị ka obere dịsasịrị akpa, na otu nnukwu ntụpọ, asọkọta ọnụ ọnụ. Angiomatosis ike ekpuchi pharynx, gọzie gị oghere na ihe n'ọnụ. N'ọnọdụ ka ukwuu (70%) nke proliferation nke ọbara arịa bụ otu kwadoro, na a 40% mgbanwe ihu angiomas-na-emekarị jikọtara na aka na ụkwụ na ogwe. na ndị ọzọ na dermatologic mgbaàmà nwere ike ime: adụ anụ ahụ ọzịza, congenital hemangiomas, nevi.

Ọ bụrụ na e a enyo nke Weber syndrome, Neurology gosipụtara lesion cranial irighiri akwara, si otú eme moto na sensory disturbances na-abụghị akụkụ nke ahụ enweghị nchịkwa nidus.

Na 85% nke ikpe na ụmụ n'okpuru otu afọ hụrụ nevoid amentia na convulsive ọrịa, gosipụtara akwụkwụ ọdịdọ Jackson ụdị, n'oge nke aka na ụkwụ na-kpuchie site ụfụ. Akwụkwụ na-adọ na-akpatakarị-eme iberibe,-eme iberibe, mgbe ụfọdụ, e nwere ike ịbụ na onye iberibe, hydrocephalus.

Na akụkụ nke akụkụ nke ọhụụ rụrụ angioma vaskụla membranes nke anya, hemianopsia, heterochromia nke iris coloboma. Otu-atọ nke ọrịa chọpụtara na glaucoma, na-eme corneal opacity.

Ọrịa Diagnosis nke Sturge-Weber

syndrome a daa ọrịa na-chọpụtara ọnụ ọkà mmụta ọrịa akwara, ophthalmologist, na epileptologist dematọlọjist.

Doctor nyochasịrị ọgwụ akụkọ ihe mere eme na onye ọrịa ahụ mkpesa, kwuru na mgbe mbụ ihe ịrịba ama nke ọrịa pụtara. Na akwara ozi nnyocha amata uche nke anụ ahụ na muscle ike ahu nsọtụ.

Okpokoro Isi radiography achọpụta ebe nke calcification nke cortex, na abụọ contours. Agbakọrọ tomography nke ụbụrụ bụ ike iji anya nke uche a ọtụtụ ibu ebe. Iji MRI ahụrụ òkè cortex thinning, atrophy na mbelata nke ọrịa ụbụrụ umi, ewepu intracerebral akpụ, ọrịa ụbụrụ ahu otutu.

Electroencephalography ekpebi ogo ụbụrụ bioelectrical ọrụ ma na-eme Epiactivity. Ophthalmologic nnyocha bụ nwalee visual acuity, intraocular mgbali nha, na-eduzi perimetry, gonioscopy, ophthalmoscopy, AB-iṅomi ultrasound biometry na anya.

Ọtụtụ mgbe, onye ọrịa na-zitere ka Dibia na ọgwụ na ahụ ike mkpụrụ ndụ ihe nketa.

ọgwụgwọ

Ọ bụrụ na Weber syndrome na-chọpụtara, ọgwụgwọ kwesịrị ịbụ naanị symptomatic. Nke a pụtara na aka onye ọrịa ndị dị otú ahụ bụ ngosipụta nke ọrịa, nke imebi ndụ ya, dị ka ihe irè ọgwụgwọ ugbu a dị.

Agwọ Ẹnịm dị ka ndị a:

• iji kpochapụ apnea mgbaàmà, dọkịta na-edepụta pụrụ iche preparations "Valproate" "Depakine", "Keppra", "carbamazepine", "Finlepsin" "Topiramate";
• ma ọ bụrụ na ugbu ọrịa uche dị iche iche ọdịdị, kenyere psychotropic ọgwụ ọjọọ;
• maka ọgwụgwọ nke glaucoma iji anya tụlee nke belata intraocular ọmụmụ secretion "Timolol", "Azopt", "Alfagan", "Dorzolamide" na ndị ọzọ.

Ọ bụrụ na ị na-na okpokoro isi oghere angioma emetụta nnọọ ịrụ ọrụ nke ahụ ahụ, ya rụrụ ịwa ahụ iji wepụ ha.

ele ihe anya

N'ụzọ dị mwute, ọrịa ndị dị ka Weber syndrome, nwere a ogbenye prognosis. Ndị na-esonụ nsogbu nwere ike ime:

• ọnwụ nke ọhụụ;
• vaskụla ọrịa, na-eduga mmepe nke ọrịa strok;
• nnọọ akpọ ntụpọ na ihu, nke na-adịghị na-ejikarị iwekota n'ime otu na budata lowers ùgwù onwe onye;
• ọdịdọ na-eme ka oké eme iberibe.

Ọ bụla mgbochi gbochie mmepe nke ọrịa a, ọ dịghị, n'ihi na kpọmkwem na-akpata ọrịa bụghị ma e kwuru.

ọgwụgwụ

N'ihi ya, Weber syndrome - a dị ize ndụ congenital ọrịa. Ụmụ ọhụrụ ibido imepe ejikari, ma na njedebe nke afọ mbụ nke ndụ e nwere akwụkwụ ọdịdọ. Ọtụtụ mgbe, ọ na-anaghị agasi na mmepe nke aka na ụkwụ, na mgbe a mgbe e nwere eme iberibe. Ọrịa a enweghị ngwọta, nwere ike na-iri ọgwụ gbochie nsogbu ike.