Dravet syndrome. Loj myoclonic qaug dab peg ntawm kiag

Ntawm cov ntau yam ces thaum yau qaug dab peg Dravet syndrome yog ib tug tshwj xeeb qhov chaw thiab tej zaum qhov loj tshaj plaws thiab lub neej-hem mob ntawm tus me nyuam. Qhov no syndrome manifests nws tus kheej nyob rau hauv thawj xyoo ntawm lub neej cov me nyuam thiab feem ntau ua rau loj cuam tshuam ntawm nws psychomotor txoj kev loj hlob, thiab nyob rau hauv tej rooj plaub - thiab kev tuag. Qhov no yog ib tug heev tsawg tus kab mob thiab nws cov ntsiab tsos mob thiab kev kho mob, thiab peb mam li tham nyob rau hauv no tsab xov xwm.

Nyob rau hauv tej rooj plaub, qhia seb muaj cov Dravet syndrome?

Dravet syndrome yog tsis ntau - muab sau tias tus kab mob no yog kev kawm mus rau 1 tug neeg ib 40 txhiab cov me nyuam mos (thiab cov tub hluas ua tau txog 66% ntawm cov neeg mob) .. Tab sis qhov no, los ntawm txoj kev, ua rau yus lub fact tias muaj tseeb mob, cov kws kho mob tej zaum kuj pom tau tias nws nyuaj rau nruab thiab, yog li, nqi lub sij hawm no yuav ploj. Thiab thaum hu ua syndrome tsis muaj txij nkawm txoj kev kho tus me nyuam tus mob feem ntau yog worsens nrog lub hnub nyoog.

Yog hais tias muaj yog ib tug me nyuam uas tsis tau attained lub xyoo, nquag bouts nrog serial los yog raws li txoj cai tsis pub dhau (ie. E., Lawv ua raws li ib lwm, thiab cov neeg mob nyob rau hauv qhov khoob tsis tuaj mus rau lub siab) thiab kuj resistant mus rau lub kev txiav txim ntawm anticonvulsant tshuaj, yuav xav tias syndrome Drava.

Cov me nyuam nrog rau qhov no feem ntau muaj ntau tawm tsam thaum lub sij hawm hnub, thiab tus mob no ntev txog ib lub lim tiam. Ces ib tug ntxias rau ib tug ob peb lub lis piam, thiab txhua yam yog pheej rov qab ua dua.

Raws li txoj cai epilepticus nrog Dravet syndrome - ib tug ncaj ntau tshwm sim. Nws yuav tsum tau nrog los ntawm convulsions los yog yuav tsis-convulsive, ib tug txawv siv ntxaug nco qab nrog segmental myoclonia (ceev nqaij laim).

Dravet syndrome: ua

Lub ntsiab ua kom muaj tus syndrome piav los ntawm tus neeg tshawb fawb hu rau ib tug kev tshuaj ntsuam genetic predisposition, namely - lub muaj nyob rau hauv tus neeg mob lub sodium channel noob change.

Thab plaub yam tseem ceeb rau qhov pib ntawm tus mob piav nyob rau hauv cov me nyuam mos ua npaws feem ntau ua thaum lub sij hawm ib tug mob, noj ib da dej kub, overheating. Tsis tas li ntawd, nws yuav ua tau mob hnyav qaug zog los yog stimulation lub teeb (flashing teeb, txoj kev hloov los ntawm ib chav tsev tsaus rau hauv lub luj lug zes, thiab hais txog. N.). Nws yuav tsum tau muab sau tseg tias tag nrho cov no thiab nyob rau hauv cov nram no xyoo tus neeg mob lub neej yuav txaus ntshai, ua rau ntau cov tawm tsam nyob rau hauv lub hwj chim rau nws.

Dravet syndrome: Cov tsos mob

Lub ntsiab ces Dravet syndrome yuav tsum tau ntaus nqi, thiab focal thiab generalized qaug dab peg. Focal qaug dab peg yog yus nyob rau hauv uas lub excitation cheeb tsam, provoking lawv tshwm sim, yog tsuas yog ib feem ntawm lub paj hlwb. Nyob rau hauv cov ntaub ntawv ntawm pathological kev ua ntawm neurons nyob rau hauv ob qho tib si hemispheres nws yog ib tug generalized qaug dab peg.

Convulsions nyob rau hauv Dravet syndrome feem ntau yog polymorphic nyob rau hauv cov xwm. Tus me nyuam nyob ib xyoo tej zaum yuav muaj clonic (nrog rau cov kev hloov nyob rau hauv cov nqaij laus), tonic (uas yog haum ntev nqaij spasm) thiab generalized myoclonic qaug dab peg.

Feem ntau muaj cov kuj tawm tsam nyob rau hauv daim ntawv ntawm cov atypical qhaj ntawv - tej yam kev mob nyob rau hauv uas tus me nyuam nco qab yog tsis cov los yog kiag li teb rau lub cheeb tsam. Cov me nyuam yaus muaj peev xwm loog thaum lub sij hawm, tab tom nrhiav nyob rau ntawm lub taw tes rau ib, nkhaus rov qab, ib tug cia li nco los yog cia li poob tias nyob rau hauv nws txhais tes.

Feem ntau cov feem ntau hais qaug dab peg tshwm sim thaum lub sij hawm kev sawv, raws li zoo raws li nyob rau hauv lub waking lub xeev (nyob rau hauv ib tug npau suav, lawv kaw tsuas yog 3% ntawm cov neeg mob nrog rau qhov no mob).

Yuav ua li cas los tsim kev soj ntsuam ces ntawm Dravet syndrome?

Raws li ib tug txoj cai, Dravet syndrome yog yus muaj los ntawm qhov tseeb hais tias saum toj no hais cov tsos mob tshwm sim nyob rau hauv ib tug tej yam ib theem zuj zus. Cov kws kho mob paub qhov txawv nruab nrab ntawm peb loj lub sij hawm ntawm kev mob nkeeg.

1. Ib tug kuj me me sij hawm, nrog rau cov tsos ntawm clonic qaug dab peg (ceev twitch, ib tug tom qab lwm yam, tom qab ib tug luv luv lub sij hawm ntawm lub sij hawm). Raws li ib tug provoking teeb meem no, raws li ib tug txoj cai, nws stands lub kub sawv nyob rau hauv tus me nyuam, tab sis nyob rau hauv lub neej yav tom ntej lawv yuav tshwm sim thiab nws tus kheej ntawm nws.
2. Rising txhoj puab heev - nrog lub advent ntawm heev heev myoclonic qaug dab peg. Lawv yog cov feem ntau febrile (t. E. Nyob ntawm seb qhov kub thiab txias nce) thiab siv tau rau lub cev thiab extremities. Rau myoclonic qaug dab peg tuaj koom nrog atypical tsis tuaj kawm ntawv qaug dab peg thiab complex focal qaug dab peg.
3. Zoo li qub lub sij hawm nyob rau hauv uas lub weaker tawm tsam, thaum tus me nyuam tseem yog ib tug loj neurological thiab hlwb kev ntshawv siab.

Lub ntsiab yam tshwm sim mob myoclonic qaug dab peg ntawm thaum yau

Raws li peb tau hais tias, nyob rau hauv view ntawm lub fact tias cov Dravet syndrome - ib tug tsawg tus kab mob, cov kws txawj feem ntau muaj teeb meem nyob rau diagnosing nws. Yog li ntawd, cov niam txiv yog ib qho tseem ceeb los mus muab ntaub ntawv hais txog kev loj hlob ntawm lub pathological mob ntawm tus me nyuam. Npe syndrome tej zaum yuav xav tias yog hais tias muaj yog muaj cov nram qab no nta:

• tus kab mob loj heev yuav ua ib xyoos ntawm hnub nyoog;
• polymorphous qaug dab peg (.. ie lawv ntau haiv neeg ces);
• nres yog tsis nres txais tos raug anticonvulsants;
• qhov tshwm sim ntawm qaug dab peg khi rau qhov kev nce rau hauv tus me nyuam lub cev kub;
• tus me nyuam hnov li loj hlob qeeb (qhov no feature yuav tsum qhia tias nyob rau hauv cov zaubmov);
• cov lus hais rau ataxia cov tsos mob (raskoordinirovannosti taw);
• MRI pov thawj tsis paub meej tias muaj cov kab mob (tshwj xeeb tshaj yog thaum pib ntawm tus kab mob);
• EEG - slowing ntawm lub keeb kwm yav dhau atherosclerosis thiab multifocal ua txhaum xa spikes thiab qeeb tsis.

Nyob rau hauv tas li ntawd mus rau cov tsos mob rau cov me nyuam nrog Dravet syndrome feem ntau yus muaj los ntawm qhov kuaj pom ntawm hyperactivity thiab xim tshaj tsis meej.

Huab cua ntawm kev loj hlob ntawm Dravet syndrome

Twv ua ntej muaj mob loj myoclonic qaug dabpeg yog feem ntau unfavorable. Tag nrho cov neeg mob mob Dravet syndrome cai hlwb ruamqauj, thiab ib nrab ntawm nws yog hnyav. Tom qab lub hnub nyoog ntawm plaub tus neeg mob muaj yog ib tug hnyav deterioration, nrog rau txoj kev loj hlob ntawm tus cwj pwm txawv txav, xws li psychosis.

Tu siab, tuag nyob rau ntawm qhov piav pathologies yog tseem heev - mus txog rau 18%, thiab nws ua rau lub feem ntau heev xwm txheej thaum lub sij hawm qaug dab peg los yog raws li txoj cai epilepticus.

Nyob rau hauv thiaj li yuav txo txoj kev pheej hmoo loj rau txim thaum lub sij hawm qhov qaug dab peg ntawm tus me nyuam, niam txiv yuav tau ib tug zoo kev nkag siab ntawm yuav ua li cas muab thawj pab rau qaug dab peg.

Yuav ua li cas muab thawj pab rau qaug dab peg tshwm sim los ntawm kev kub muaj peevxwm?

Yog hais tias tus me nyuam muaj mob chua leeg nyob rau hauv cov lus teb rau ib tug sawv nyob rau hauv kub (uas, raws li tej zaum koj yuav nco qab, tus kab mob no yog ib tug ntawm cov yam ntxwv tseem ceeb), soj ntsuam cov cai nram qab no:

• Muab cov me nyuam nyob rau hauv ib tug ca saum npoo;
• muab huab cua ntshiab;
• ntxuav tus me nyuam lub qhov ncauj ntawm hnoos qeev;
• tig tus me nyuam lub taub hau mus rau ib sab;
• Siv antipyretic kev ua ub no.

Yog hais tias tus me nyuam tau qhia ib tug kub taub hau, uas yog, nws lub hauv pliaj kub, nws lub ntsej muag miv yaug, ces ua ntej kev pab rau qaug dab peg yuav tsum tau tswj kom txhob muaj cov kub (txias ntub hlob nyob rau hauv lub hauv pliaj, txias mus rau lub qhov tso thiab nyob rau hauv lub puab tais, lub cev rubdown nrog dej thiab vinegar nyob rau hauv ib tug ratio ntawm 1 1, antipyretics).

Yog hais tias cov me nyuam yaus nyob rau hauv ib tug tom qab ntawm kub daim tawv nqaij yog daj ntseg, blue daim di ncauj thiab rau tes rau, ua daus no, mob khaub thuas taw thiab lub xib teg, lub rubdown thiab txias compresses yuav tsum tsis txhob yuav ua li cas. Sov me nyuam yuav tsum tau muab antipyretics, thiab cov ntsiav tshuaj "Tsis muaj-spa" los yog "Papaverine" tus nqi ntawm 1 mg ib 1 kg lub cev qhov ceeb thawj rau vasodilatation.

Pab thaum deployed epileptic qaug dab peg

Nyob rau hauv cov kev tshwm sim ntawm ib tug deployed epileptic qaug dab peg nrog generalized clonic thiab tonic convulsions ntawm tus me nyuam yuav tsum:

• pw rau ib tug ca saum npoo;
• nyob rau hauv lub taub hau rau vij ib yam dab tsi mos mos, tus me nyuam tsis tau sib ntaus sib tua nws;
• muab huab cua ntshiab kom tsawg;
• ntxuav lub qhov ncauj thiab lub caj pas ntawm hnoos qeev;
• tig koj lub taub hau mus rau ib sab;
• nyob qib qub tej daim ntawm daim ntaub rau hauv ib tug pob caus thiab ntxig rau nws ntawm cov hniav los mus tiv thaiv tom tus nplaig thiab daim di ncauj, raws li tus me nyuam ntawm ib xyoo tej zaum yuav ib tug khoom kwv (rab diav, ib tug stick) mus ua txhaum nws cov hniav;
• so nyob qhov ncauj ua npuas ncauj phuam;
• kom paub tseeb tias thaum lub sij hawm nres rau tus me nyuam tsis ntaus rau ib yam dab tsi.

Yog hais tias convulsions coj hauv daim ntawv ntawm cov txheej xwm, nco ntsoov mus hu "tsheb thauj neeg mob."

Basic ntsiab cai ntawm kev kho mob ntawm cov me nyuam nrog Dravet lub syndrome

me nyuam mob kev kho mob ntawm tus kab mob piav deceleration yog txo mus rau tiv thaiv cov kev loj hlob ntawm qaug dab peg thiab lawv txoj cai daim ntawv.

Thaum tus mob ntawm kev kho mob "Dravet syndrome" excludes kev siv cov lug paub antiepileptic tshuaj: "Carbamazepine", "Finlepsin", "Phenytoin" thiab "lamotrigine" txij thaum lawv tsuas paug tus neeg mob tus mob, compounding hauv uas twb muaj lawm ntaub ntawv ntawm cov qaug dab peg.

Nyob rau hauv tas li ntawd mus yuav tsum tau tshuaj kho mob, nws yog ib qho tseem ceeb los ua tim nyob rau hauv lub siab lub kev tiv thaiv ntawm kub taub hau, vim nws yog ib lub xeev tshwj xeeb txaus ntshai rau tus neeg mob. Yuav kom tshem tawm ntxias tawm tsam ntawm lub teeb stimulation twb muaj rau coj tsom iav nrog xiav lo ntsiab muag los yog ib tug kev sib tw iav.

Dravet syndrome Drug Therapy

Yog hais tias tus mob yog paub tseeb hais tias, kev kho mob yuav pib nrog qhov pib ntawm cov tshuaj "Topiramate". Nws yog tshuaj txhaj koob tshuaj ntawm 12.5 mg / hnub., Maj mam nce mus rau 3-10 mg / kg / hnub. (Tshuaj noj ob zaug ib hnub twg). Qhov cuab yeej no yog tshwj xeeb tshaj yog pab tau nyob rau hauv tus neeg mob qhov twg cov me nyuam piav qaug dab peg zoo nkaus li generalized qaug dab peg thiab paroxysms ntawm convulsions nrog switching los ntawm ib tug ib nrab ntawm lub cev mus rau lwm lub (gemikonvulsiyami).

Cov nram qab no formulations rau monotherapy - ib tug derivative ntawm valproic acid (phoov "Konvuleks", "Konvulsofin", etc ...) - yog tshwj xeeb yog zoo nyob rau hauv atypical qhaj ntawv thiab myoclonus, thiab barbituric acid ( "Phenobarbital") siv nyob rau hauv generalized convulsions nrog propensity rau cov xwm txheej tam sim no. Incidentally, nyob rau hauv cov ntaub ntawv no, thiab sau tseg high efficiency ntawm bromides.

Yog hais tias tsim nyog, siv ib tug ua ke ntawm cov tshuaj. Qhov zoo tshaj ntawm lawv yog ib tug ua ke ntawm valproate nrog txhais tau tias "topiramate".