Weber-Krabbe maʻi pale: mea, lalau mai, symptoms a me ka hana hiʻona

I kekahi manawa, hanau ke aoʻike, ma kauka - "Sturge-Weber-Krabbe maʻi pale". He He pohihihi keia congenital angiomatous maka maʻi,ʻili a me ka lolo membranes. He maʻi ia lŘlŘ i loko o kekahi kanaka no 100.000. No ka manawa mua, i kēia maʻi pale i ua hōʻike Sturgeon i ka 1879, a ma ka 1922, Weber ho'ākāka 'ia ma nā symptoms akomi i X-kukuna.

Krabbe i ka makahiki 1934 i ka mea mahuʻi ana ma ka hou ana i ka ili angiomas a me ka hoʻomanawanui poino mai cerebral angiomatosis leho. E ka ho'āʻo e pohihihi mai ka mea i ka maʻi pale Sturge-Weber-Krabbe, kumu, symptoms o keia maʻi.

Hiʻona o ka maʻi

Kēia maʻi pale He He congenital angiomatosis, 'ole. E. Excessive ka hoʻonuiʻana o ka moku i ke koko. Pathology e loli ai ka Central ko mākou hopohopo oihana, nā loko o ka hihiʻo, ili. Weber maʻi pale hoike mai ai ia he nui congenital angiomas lehalehu t wahi, glaucoma, epilepsy, noʻonoʻo retardation, a me nā neurological a me ka ocular symptoms.

Diagnosed maʻi Via cranial radiography, MRI paha HI cerebral hale, ana o intraocular puʻe, ophthalmoscopic examinations, ultrasound maka gonioscopy. Ka iapaau ana ninoieo o symptomatic Inc a me ka antiepileptic a me ka glaucoma makeʻe kulana, a ua eliminated surgically. Ma ka hapanui o na hihia i ka prognosis meaʻilihune.

kumu o ka

Weber maʻi pale ia lŘlŘ ma muli o ka 'aʻe' ana i fetal? Acaeoey, kūpono i ka poino mau germ papa: ectoderm a me ka mesoderm. He no ka mea, o ia ka mea ua'emi'ōnaehana hoʻomaka e hoʻomōhala ma hope o kekahi manawa, i kaʻili, ipu koko a me na nā loko o ke keiki.

Nā kumu no kēia ole i ia i ke kēia:

• intoxication o hapai wahine me ka nicotine i, ai ', ka waiʻona, likeʻole ai';
• intrauterine maʻiʻaʻai;
• dysmetabolic aʻe 'ana i loko o ka expectant makuwahine.

symptoms

Inā he kanaka ua diagnosed Weber maʻi pale, i e okoa ka symptoms o keia maʻi. Ke kumu nui o ia - angiomatosis ili. Kēia vascular kohu. No nā mea a pau e hoomanawanui i mea innate, a ma manawa e hoʻomaka e mahuahua ma ka nui. Ka hapanui pinepine aia ma na papalina, a ma lalo o nā maka, a me ka puʻe hoʻomaka e mae. Ma ka hoʻomaka, ke kina i ke ano a pink, laila, i ula kamako iki paha hualiʻulaʻula.

Angioma ke oko a i keʻano a me ka prevalence, a ua like ka poe liilii, hoopuehu aku anaʻekeʻeke, a hoʻokahi nui ke kina ole, merging pu. Angiomatosis hiki ke uhi i ka pharynx, ka nasal lua, a me ka waha. Ma ka hapanui o na hihia (70%) o ka hoʻonuiʻana o ka moku i ke koko o kekahi-mńlualua, a he 40% loli ma lehalehu t angiomas i ana hui me na lala a me ka kumu. a me nā dermatologic symptoms kānāwai: palupalu'aʻaʻa nani, congenital hemangiomas, nevi.

Inā he mea i hoʻohuoiʻia no Weber maʻi pale, Neurology hoikeia lesion cranial nā aʻalolo, hiki hoomokuahana Hawaii a me ka sensory haunaele ma kaʻaoʻao e ku pono ana o ke kino pathological nidus.

I ka 85% o ka hihia i loko o na keiki ma lalo o hoʻokahi makahiki malama nevoid amentia me convulsive kāna hana, hoikeia mai epileptic kāʻili 'Jackson' ano, oiai i na lala i uhiʻia e convulsions. Epilepsy pinepine hiki aku ai i ka noʻonoʻo retardation, noʻonoʻo retardation, ma kekahi hihia, ma laila i e ka hupo, hydrocephalus.

Ma ka hapa o na nā loko o ka hihio e ae nānā mau angioma vascular membranes o na maka, hemianopsia, heterochromia o na iris coloboma. One-hapakolu o nā mea maʻi diagnosed me ka glaucoma, ma o na la corneal opacity.

Maʻi paleʻike, o Sturge-Weber

maʻi pale keia pathology ua diagnosed pu neurologist, ophthalmologist, a me epileptologist dermatologist.

Kauka ke kālailai 'inikua mōʻaukala, a me ka hoomanawanui i ka hoopii, i mai la i ka makahiki, i ka wa o ka mua na hoailona o ka maʻi ikea. Me ka neurological ninaninau Loiloi i pā lonoaʻili o ka ili a me ka Muscle ikaika kinoʻaoʻao.

Kalevari radiography huai ae mau no calcification o ka cortex, me ka papalua contours. Me tomography o ka lolo mea hiki ke visualize i ka nui nui wahi. E ho ohana i MRI ia akulla'āpana cortex thinning, atrophy a me degeneration o cerebral waiwai, Ma waho aʻeo ka intracerebralʻeho, cerebral cyst.

Electroencephalography e hoʻoholo i ka degere o ka lolo bioelectrical haʻawina a me nā pūʻulu Epiactivity. Ophthalmologic ninaninau mea e hoao pilikia makapō acuity, intraocular puʻe ana, e mālama nei perimetry, gonioscopy, ophthalmoscopy, AB-scan NineManga.com ultrasound biometry a me ka maka.

Muli o kona kulana pinepine, i ke ahonui ua hoouna no ka kuka ana i ka 'inikua aaiaoe?.

lapaʻau

Inā Weber maʻi pale ua diagnosed, lapaʻau e e symptomatic wale. Kēia 'o ia hoʻi i relieves ka hoʻomanawanui mai i na hoike ana mai o ka maʻi, i hihia hoʻi i loko o kona ola, e like me ka mana kanaka a ianoiyuaa a i koe.

me ka mākaʻi Inc like penei:

• e hoʻopau apnea symptoms, ke kauka prescribes kūikawā hoomakaukau "Valproate" "Depakine", "Keppra", "carbamazepine", "Finlepsin" "Topiramate";
• ina paha lakou maanei kāna hana o ka noʻonoʻo 'a me ka' ehaʻeha o ke ano maoli, hoakaka psychotropic ai ';
• no ka iapaau ana o ka glaucoma hoʻohana maka kulu i emi intraocular loli secretion "Timolol", "Azopt", "Alfagan", "Dorzolamide" a me na mea e ae.

Inā 'oe i loko o ka puniu wale no lua angioma seriously maikaʻiʻole i ka functioning o ke kino, hanaʻoki kino, e wehe ia.

Outlook

Me ke kaumaha, ua maʻi like Weber maʻi pale, i ka poe ilihune prognosis. ʻO kēia complications ke ana:

• kahe o ka hihiʻo;
• vascular kāna hana, e alakai ana i ka hooulu ana o ka hahauʻana;
• loa haʻi hewa ma luna o ka maka, a 'aʻole i hoʻononiakahi maʻamau i loko o ke kaiāulu kanaka, a me ka nui loa emi pakiko-ʻia;
• kāʻili 'ana he hoʻonui i ka loa noʻonoʻo retardation.

Kekahi kāohi ana, e pale aku i ke kūpono 'ana o kēia maʻi, ole, no ka mea, ka mea kiko'ī kumu o ka maʻi iʻaʻole naʻe, ua hōʻike'.

ka hopena

Penei, Weber maʻi pale - he pilikia congenital maʻi. Keiki keiki initially ulu maʻamau, akā, ma ka pau ana o ka makahiki mua o ke ola, aia i epileptic ke kāʻili 'ana. Pinepine ka mea, ua lagging hope i loko o ka ulu ana o ka lala, a ma hope kekahi, oiai mea noʻonoʻo retardation. Kēia maʻi He maʻi, hiki wale lawe lapaʻauʻia i ole deteriorating ola.