Dravet syndrome. Aakulu myoclonic khunyu la wakhanda

Mwa mawonekedwe osiyana ubwana khunyu Dravet syndrome ndi udindo wapadera ndipo mwina kwambiri kwambiri ndi moyo pachiswe matenda a mwanayo. syndrome kumaonekera mu chaka choyamba cha moyo mwanayo ndipo nthawi zambiri kumayambitsa kusokonezeka kwambiri kukula kwake psychomotor, ndi zina - ndi imfa. Izi si matenda osowa ndi zizindikiro zake zazikulu ndi mankhwala, ndipo ife m'nkhani ino.

Nthawi zina, akusonyeza pamaso pa syndrome Dravet?

Dravet syndrome si wamba - ananena kuti matenda umamumvera 1 munthu pa ana 40 thousand (ndi anyamata amapanga za 66% ya milandu) .. Koma izi, ndi njira, kumabweretsa chakuti matenda zolondola, madokotala nthawi zina zimakuvutani kukhazikitsa ndi, motero, nthawi wapatali atayika. Ndipo pamene amatchedwa matenda popanda mankhwala kukonza chikhalidwe mwanayo zambiri worsens ndi zaka.

Ngati pali mwana amene si atapeza chaka, kumwa pafupipafupi siriyo kapena udindo mkati (ie. E., zimatsatira wina ndi mzake, ndi opirira mipata samabwera kwa malingaliro) ndi kugonjetsedwa ndi zochita za mankhwala anticonvulsant, akhoza amaganiziridwa syndrome Drava.

Ana ndi kawirikawiri ndi kuukira angapo masana, ndipo chikhalidwe ichi kumatenga za sabata. Kenako tizigona kwa masabata, ndi chirichonse akubwerezedwa kachiwiri.

Momwe epilepticus ndi Dravet syndrome - chodabwitsa zofala. Iye akhoza limodzi ndi khunyu kapena kukhala sanali convulsive, ndi osiyana mwamphamvu chisokonezo cha chikumbumtima ndi segmental myoclonia (kudya kukokana kwa minofu).

Dravet syndrome: zimayambitsa

Chinthu chachikulu chomwe syndrome anafotokoza ofufuza zimafika kumakhala kutengera za kumtundu, ndicho - pamaso pa masinthidwe wodwalayo ndi sodium njira mbewu.

zinthu kukulitsa kwa isanayambike chikhalidwe anafotokoza makanda malungo zambiri amachita pa matenda, kutenga kusamba otentha, kutenthedwa. Komanso, kungakhale aakulu kutopa kapena kukondoweza kuwala (zikuthwanima nyali, kusintha kwa chipinda mdima mu kwambiri anayatsa, ndi zina zotero. N.). Tikumbukenso kuti zonse ndi zaka zotsatira moyo wodwala adzakhala oopsa, kuchititsa kuukira zosiyanasiyana za mphamvu izo.

Dravet syndrome: Zizindikiro

Mawonetseredwe waukulu syndrome Dravet akhoza zimachitika, ndipo mogwirizana ndi zowombetsa mkota khunyu. khunyu mogwirizana yodziwika m'dera la malemeredwe, n'zothandiza asayembekezere, ndi gawo limodzi la ubongo. Pankhani ya ntchito pathological wa manyuroni mu hemispheres onse ndi kulanda zowombetsa mkota.

Zopweteka mu syndrome Dravet kaŵirikaŵiri polymorphic m'chilengedwe. Child mu chaka n'kutheka kuti nanunso clonic (ndi kusintha minofu kamvekedwe), zimandilimbikitsa (amene ali mwachilungamo yaitali minofu kuphipha) ndi zowombetsa mkota myoclonic khunyu.

Nthawi zambiri pali kuukira mu mawonekedwe a amajomba atypical - zinthu zimene chikumbumtima mwanayo si pang'ono kapena kwathunthu kuyankha chilengedwe. Mwana akhoza dzanzi pa nthawi, kuyang'ana pa nthawi ina, yokhota kumapeto kumbuyo, dontho mwadzidzidzi kapena kusiya basi mu manja ake.

umatchulidwa kwambiri khunyu kumachitika nthawi kudzuka, komanso boma m'maŵa (m'maloto, analemba okha 3% ya odwala matenda izi).

Kodi kukhala mawonetseredwe matenda a syndrome Dravet?

Monga ulamuliro, syndrome Dravet amakhala ndi chakuti pamwamba zizindikiro otchulidwa zimachitika mu ndondomeko zina. Madokotala kusiyanitsa nthawi zitatu zikuluzikulu za matenda.

1. A nyengo ndi wofatsa, ndi maonekedwe a khunyu clonic (kudya twitch, mmodzi, patapita kanthawi kochepa). Monga vuto kuwaganizira, monga ulamuliro, yaima kuwuka kutentha mwana, koma m'tsogolo zingachitike ndi payekhapayekha izo.
2. Kutuluka aukali - mkubwela kwa ambiri khunyu myoclonic. Kawirikawiri febrile (T. E. Malinga ndi kuwonjezeka kutentha) ndi ntchito thunthu ndi malekezero. Pakuti khunyu myoclonic agwirizane atypical pakalibe khunyu ndi zovuta khunyu focal.
3. Malo amodzi nthawi imene kuukira ofooka, pamene mwanayo akhala aakulu a ubongo ndi maganizo matenda.

Zizindikiro zikuluzikulu za aakulu myoclonic khunyu ubwana

Monga tanena kale, mu Popeza kuti Dravet syndrome - matenda osowa, akatswiri zambiri zimawavuta Kupeza Vuto izo. Choncho, makolo ndi kofunika kupereka mfundo zolondola zokhudza chitukuko cha chikhalidwe pathological mwanayo. Dzina lake syndrome akhoza amaganiziridwa ngati zilipo zinthu zotsatirazi:

• matenda patsogolo kwa chaka chimodzi zakubadwa;
• polymorphous khunyu (.. mwachitsanzo mawonetseredwe osiyanasiyana);
• kuukira si anasiya phwando lililonse anticonvulsants;
• pakutchulidwa a khunyu womangidwa kwa kuwonjezeka thupi kutentha mwanayo;
• mwana noticeable kakulidwe kuchedwa (Mbali imeneyi tingasonyezere amawasonyeza mosiyanasiyana);
• Zizindikiro kutchulidwa ataxia (kayendedwe raskoordinirovannosti);
• umboni Kujambula Kodi umboni wotsimikizira pamaso pa matenda (makamaka pachiyambi cha matenda);
• Akugwirira - liwiro la maziko mungoli ndi kuyan'anila multifocal anagonjera spikes ndi mafunde pang'onopang'ono.

Kuwonjezera zizindikiro zimenezi kwa ana ndi matenda Dravet zambiri yodziwika ndi kukhalapo kwa matenda ofuntha ndi chidwi kuchepekedwa.

Mapa chitukuko cha matenda Dravet

Kuneneratu aakulu myoclonic khunyu ndi zambiri zovuta. odwala onse anapezeka ndi matenda Dravet anati retardation maganizo, ndi theka la n'lalikulu. Pambuyo pa zaka odwala anayi pali kuwonongeka mwapang'onopang'ono, ndi chitukuko cha kuvutika khalidwe, kuphatikizapo maganizo.

Mwatsoka, woopsa pa pathologies anafotokoza komanso ndi mkulu - 18%, ndipo amachititsa ngozi zambiri pa khunyu kapena udindo epilepticus.

Pofuna kuchepetsa chiopsezo mavuto aakulu pa kulanda mwana, makolo ayenera kudziwa bwino momwe amapereka thandizo loyamba kwa khunyu.

Kodi kupereka thandizo kwa khunyu chifukwa cha kutentha?

Ngati mwana ali ndi khunyu poyankha nyamuka kutentha (lomwe, monga mwina mukukumbukira, matenda ndi chimodzi mwa zinthu zikuluzikulu), kusunga Malamulo awa:

• Ikani mwanayo lathyathyathya pamwamba;
• kupereka mpweya wabwino;
• kuyeretsa pakamwa mwana wa ntchofu;
• mutu wa mwanayo ku mbali imodzi;
• Muzicheza ntchito antipyretic.

Ngati mwana kuzimwera malungo, ndiye pamphumi otentha, nkhope yake yasintha, ndiye thandizo kwa khunyu ayenera umalimbana kuchepetsa kutentha (ozizira chonyowa compress pamphumi, ozizira m'khwapa ndi m'dera groin, akupukuta thupi ndi madzi ndi viniga mu chiŵerengero cha 1 1, antipyretics).

Ngati mwana pa maziko a khungu mkulu kutentha ndi wotumbululuka, milomo bluish ndi zikhadabo, kuzizira, mapazi ozizira ndi makhwatha, ndi rubdown ndi compresses ozizira kuti asachite. Ofunda kuyenda apereke antipyretics, ndi miyala "No-spa" kapena "Papaverine" mlingo wa 1 mg pa 1 makilogalamu thupi kwa vasodilatation.

Thandizeni pamene kufalitsidwa khunyu khunyu

Mu chochitika cha kufalitsidwa khunyu kulanda ndi zowombetsa mkota zopweteka clonic ndi zimandilimbikitsa wa mwana ayenera kukhala:

• anaika pa lathyathyathya pamwamba;
• pansi pa mutu kutsekeramo chinachake zofewa, mwanayo sanali kumenyana nacho;
• kupereka mpweya wambiri atsopano;
• kuyeretsa mkamwa ndi mmero wa ntchofu;
• mutu wanu kuti mbali imodzi;
• kusonkhana chidutswa chirichonse cha nsalu mu mfundo ndi kumanga pakati pa mano kuteteza kuluma lilime ndi milomo, monga mwana wa chaka kungakhale chinthu cholimba (a supuni, ndodo) kuswa mano;
• misozi anaonekera pakamwa thovu chopukutira;
• kuonetsetsa kuti akadzaukira mwanayo si kugunda pa chinachake.

Ngati kupweteka afanane ndi udindo, onetsetsani kuti kuitana "ambulansi."

zoyamba za chithandizo cha ana amene ali ndi matenda Dravet a

odwala matenda a matenda anafotokoza deceleration mwana yafupika kupewa chitukuko cha khunyu ndi maonekedwe awo udindo.

Pamene matenda a chithandizo "Dravet syndrome" amakonda kugwiritsa ntchito mankhwala wotchuka antiepileptic: "Carbamazepine", "Finlepsin", "Phenytoin" ndi "lamotrigine" popeza yekha kuvutika alili, Kuwonjezera pa vuto mwa mitundu wogwila a khunyu.

Kuwonjezera mankhwala kuvomerezedwa, ndikofunika kukumbukira kupewa malungo, chifukwa ndi boma oopsa kwambiri, makamaka kwa wodwalayo. Kuti achotse kuukira imfayo ya kukondoweza kuwala wotwaliwa kwa kuvala magalasi ndi magalasi buluu kapena kujambulidwa galasi.

Dravet syndrome Chithandizo cha Mankhwala

Ngati matenda zikutsimikiziridwa, chithandizo akuyamba ndi chiyambi cha mankhwala "Topiramate". Iwo Kwalamulidwa mlingo wa 12,5 mg / tsiku. Pang'onopang'ono zikuchuluka 3-10 mg / kg pa / tsiku. (Medicine anatengedwa kawiri pa tsiku). Chida ichi ndi zofunika kwambiri makamaka nthawi imene ana anafotokoza khunyu amapezeka pafupipafupi zowombetsa mkota ndi paroxysms a khunyu ndi kusintha theka limodzi la thupi ndi mzake (gemikonvulsiyami).

The formulations zotsatirazi kwa monotherapy - ndilochokera asidi valproic (manyuchi "Konvuleks", "Konvulsofin", etc ...) - ndiwo kwenikweni amajomba atypical ndi myoclonus, ndi asidi barbituric ( "Phenobarbital") ntchito khunyu zowombetsa mkota ndi propensity kuti udindo panopa. Zodabwitsa ndizakuti, mu nkhani iyi, ndipo anati Mwachangu mkulu wa bromides.

Ngati ndi kotheka, ntchito osakaniza mankhwala. Ogwira ambiri a iwo ndi osakaniza valproate ndi amatanthauza "topiramate".