Dravet syndrome. Sinzima isithuthwane myoclonic ka esewusana

Phakathi okunhlobonhlobo ebuntwaneni isithuthwane Dravet syndrome nendawo ekhethekile futhi cishe iziyaluyalu futhi ezisongela ukuphila kakhulu kabi ingane. Lesi sifo kuzibonakalisa onyakeni wokuqala wokuphila ingane futhi ngokuvamile kuholela ukuphazamiseka sina yentuthuko yakhe lengqondo, futhi kwezinye izimo - nokufa. Lena ngempela isifo ezingavamile futhi izimpawu zako ezisemqoka futhi ukwelashwa, futhi sizokhuluma ngani kulesi sihloko.

Kwezinye izimo, ibonisa ukuthi Dravet syndrome?

Dravet syndrome akuyona ovamile - waphawula ukuthi lesi sifo kuncike 1 ngomuntu ngamunye izinsana ayizinkulungwane 40 (nabafana bakha mayelana 66% amacala) .. Kodwa lokhu, ngasendleleni, kuholela yokuthi okuyikona, odokotela ngezinye izikhathi ukuthola kunzima ukufaka, futhi kanjalo, isikhathi esibalulekile kulahleka. Futhi lapho ebizwa syndrome ngaphandle kokwelashwa yesondlo isimo somntwana ngokuvamile siba sibi njengoba umuntu ekhula.

Uma kukhona ingane ongazange attained ngonyaka, izikhathi zokudakwa njalo nge-serial noma isimo ngaphakathi (isb. E., Balandela komunye nomunye, kanti isiguli e izikhala akezi engqondweni) futhi amelana isenzo izidakamizwa anticonvulsant, kungenziwa esolwa syndrome Drava.

Izingane nale ngokuvamile aba ukuhlaselwa amaningi emini, futhi kulesi simo ithatha cishe isonto. Khona-ke umuntu ukusikhohlisa ngoba amasonto ambalwa, futhi konke iyaphindwa futhi.

Isimo epilepticus nge Dravet syndrome - into lalivamile. Angase kuhambisane Ukudlikizela noma non-convulsive, ehlukile umfutho ukuphazamiseka ukwazi nge myoclonia segmental (okusheshayo kwemisipha ukudikiza).

Dravet syndrome: izimbangela

Imbangela enkulu yalesi sifo esachazwa abacwaningi shayela yofuzo, okungukuthi - khona sodium isiteshi zofuzo zesiguli.

izici ngodlame ngoba ukuqala isimo ezichazwe izinsana imfiva ngokuvamile yenza lapho ugula, ukugeza umzimba ngamanzi ashisayo, okweqile. Futhi, kungaba okukhulu (izibani agqoke, aphuma ikamelo omnyama ngiphumela ngokukhazimulayo ovuthayo, njalo njalo. N.) ukukhathala noma ukushukuma ukukhanya. Kufanele kuqashelwe ukuthi konke lokhu nokunye eminyakeni eyalandela ukuphila lesiguli kuyoba yingozi, okubangela ukuhlaselwa ahlukahlukene emandleni ngoba.

Dravet syndrome: Izimpawu

I ukubonakaliswa eyinhloko Dravet syndrome ibangelwa, futhi ebalulekile kanye generalized nokuquleka. ukuquleka Focal zinezikhathi kuleso sifunda le excitation, ingqondo nesenzakalo yabo, siyingxenye nje kuphela zobuchopho. Endabeni umsebenzi sokugembula izinzwa zombili ama- kuba kokuquleka generalized.

Ngibanjwe e Dravet syndrome ngokuvamile kukhona polymorphic ngokwemvelo. Ingane ngonyaka kungenzeka unemizwelo clonic (ne ushintsho imisipha ithoni), tonic (okuyizinto sasivumela eside imisipha spasm) futhi generalized nokuquleka myoclonic.

Ngokuvamile kukhona ukuhlaselwa ngendlela usuke ungekho atypical - izimo lapho unembeza wengane akuyona ingxenye noma ngokuphelele aphendule imvelo. Kid kungaba Numb ngesikhathi, ngifuna ngesinye isikhathi, agobile emuva, iconsi okungazelelwe noma nje udedele ukuthi ezandleni zakhe.

Ngokuvamile lokhu kuquleka okukhulunywa zenzeka phakathi nokuvuka, kanye isimo ucabangana (ephusheni, ayeloba 3% eziguli nale Ihlahlubo).

Kanjani ukuthuthukisa ukubonakaliswa basemtholampilo Dravet syndrome?

Njengomthetho, Dravet syndrome libhekene yokuthi izimpawu ngenhla zenzeka ngo ukulandelana ezithile. Odokotela ukuhlukanisa phakathi izinkathi ezintathu ezinkulu zokugula.

1. Kwabe sekuqala inkathi kuqhathaniswa omnene, ne ukubonakala nokuquleka clonic (okusheshayo ukudikiza, omunye ngemva komunye, emva esifushane). Njengoba isimo ingqondo, njengoba umthetho, kusobala kuyanda lokushisa kule ngane, kodwa esikhathini esizayo bangakwazi kuphakama futhi ngaphandle kwalo.
2. Rising nolaka - ne obhekwe nokuquleka eziningi myoclonic. Ngokuvamile febrile (t. E. Kuye ukwanda lokushisa) kanye isicelo sesihlahla futhi emikhawulweni. Ukuze nokuquleka myoclonic ujoyine atypical ukungabi nokuquleka kanye nokuquleka eziyinkimbinkimbi eqondile.
3. isikhathi Static lapho ukuhlaselwa buthaka, kuyilapho ingane kusalokhu iziyaluyalu sina zezinzwa zengqondo.

Izibonakaliso eyinhloko isithuthwane ezinzima myoclonic ebuntwaneni

Njengoba sishilo, uma sicabangela iqiniso lokuthi Dravet syndrome - isifo ezingavamile, ochwepheshe bahlangabetana nebumatima uma kuhlolwa ke. Ngakho-ke, abazali kubalulekile ukunikeza ulwazi olunembile mayelana nokuthuthukiswa isimo sokugembula ingane. Yethiwa syndrome zingase zixwaywe uma kukhona ayatholakala izici ezilandelayo:

• lesi sifo uye usuthuthuke konyaka ubudala;
• ukuquleka polymorphous (.. ie ukubonakaliswa zabo ezingafani);
• kuhlasela akuhlobene wayeka reception anticonvulsants ejwayelekile;
• okuvela nokuquleka kuboshelwe ukwanda izinga eliphansi lokushisa komzimba wengane;
• ingane lubonakale ukulibaziseka kwamabanga (lesi sici ungaboniswa ngezindlela ezingafani);
• liphinyiselwe izimpawu ataxia (ukunyakaza raskoordinirovannosti);
• ubufakazi MRI akusho uqinisekise khona isifo (ikakhulukazi ekuqaleni lesi sifo);
• Bheka - okwehlisa we isigqi ingemuva kanye ukwephulwa multifocal okufakiwe spikes futhi amagagasi kancane.

Ngaphezu lezi zimpawu izingane nge Dravet syndrome ngokuvamile ebonakala khona hyperactivity futhi ukungakwazi ukugxilisa ingqondo kahle.

Isibikezelo yentuthuko Dravet syndrome

Ukubikezela ezinzima isithuthwane myoclonic ngokuvamile okungekuhle. Zonke iziguli ukuthi nginesifo Dravet syndrome waphawula retardation engokwengqondo kwesigamu sinzima. Ngemva kweminyaka engu-iziguli ezine kukhona ukuwohloka okuqhubekayo, ukuthuthukiswa kwezinso zokuziphatha, kuhlanganise sengqondo.

Ngeshwa, lapho iphuzwa ngokweqile ngesikhathi pathologies echazwe futhi eliphezulu kakhulu - kufike ku-18%, futhi kubangela izingozi eyayivame kakhulu ngesikhathi nesimo sokuquleka noma isimo epilepticus.

Ukuze kuncishiswe ingozi nemiphumela emibi ngendlela efanayo ngesikhathi ekuthatheni ingane, abazali kudingeka ukuqonda kahle kanjani ukunikeza usizo lokuqala for nokuquleka.

Kanjani ukunikeza usizo lokuqala for nokuquleka kubangelwa okushisa aphakeme?

Uma ingane has nokuquleka ekuphenduleni ukunyuka kwezinga lokushisa (okuyinto, njengoba ungase ukhumbule, lesi sifo ingenye izici eziyinhloko), ukugcina imithetho elandelayo:

• Beka umntwana phezu flat;
• ukuhlinzekela emoyeni opholile;
• ukuhlanza umlomo womntwana ka isikhwehlela;
• ujikise ikhanda lengane ukuba uhlangothi;
• Chitha imisebenzi antipyretic.

Uma ingane oke imfiva, okungukuthi, ebunzini lakhe ashisayo, ubuso bakhe jabulile ke usizo lokuqala for nokuquleka kufanele okuhloswe ngazo ukunciphisa izinga lokushisa (abandayo cindezela ezimanzi emabunzini, abandayo emakhwapheni futhi imbilapho, le rubdown umzimba ngamanzi uviniga e isilinganiso 1 1, antipyretics).

Uma izinyane on isizinda okusezingeni eliphezulu lokushisa isikhumba Uphaphathekile, izindebe bluish nezinzipho, Ukugodola, izinyawo abandayo nezintende zezandla, le rubdown kanye ukulibopha ngezindwangu ezibandayo akufanele kwenziwe. encane Warm kufanele unike antipyretics, kanye amaphilisi "Cha-spa" noma "Papaverine" ngesilinganiso 1 mg ngayinye esisindo 1 kg vasodilatation.

Siza uma efakwe zesifo sokuwa

Esimeni a efakwe kokuquleka sokuwa ne Ukudlikizela generalized clonic kanye tonic wengane kufanele kube:

• wabeka phezu flat;
• ngaphansi ikhanda buyela okuthile elithambile, ingane akazange alwe ke;
• ukuhlinzekela fresh air eyanele;
• ukuhlanza indawo emlonyeni nasemphinjeni ka isikhwehlela;
• ujikise ikhanda lakho nganxanye;
• associate phi indwangu ibe ifindo elingaqaqeki bese ufaka phakathi kwamazinyo aso ukuvimbela iluma izindebe, njengoba ingane ngonyaka kungenzeka eqinile (spoon, induku) ukuphula amazinyo akhe;
• Sula uvele umlomo Foam ithawula;
• ukuqinisekisa ukuthi phakathi nokuhlasela ingane akusho hit okuthile.

Uma Ukudlikizela athathe isimo isimo, qiniseka ukubiza "ambulensi."

izimiso eziyisisekelo lokwelapha izingane ezinezimo Dravet Syndrome

ukuphathwa ingane egulayo yesifo deceleration echazwe kuyehla kube ukuvimbela ukuthuthukiswa nokuquleka futhi ifomu yabo isimo.

Lapho sitholakele ukwelashwa "Dravet syndrome" akufaki ukusetshenziswa kwezidakamizwa laziwe kabanzi antiepileptic: "Carbamazepine", "Finlepsin", "Phenytoin" futhi "lamotrigine" ngoba kuphela isimo sibe sibi isimo lesiguli, ezihlanganisiwe ngaphakathi izinhlobo ezikhona ka nokuquleka.

Ngaphezu ukwelashwa izidakamizwa saziso, kubalulekile sikhumbule nokuvimbela imfiva, ngoba iwumbuso kuyingozi ikakhulukazi esigulini. Ukuze ususe avuse ekuhlaseleni ukushukuma ukukhanya wanikelwa ukugqoka izibuko abanamalensi okwesibhakabhaka noma ingilazi eyodwa aqoshiwe.

Dravet syndrome Ukwelapha Ngemithi

Uma uphethwe kuqinisekisiwe, impatho iqala kokuqala izidakamizwa "Topiramate". It ezinqunyiwe umthamo 12.5 mg / usuku., Kancane kancane landa 3-10 mg / kg / usuku. (Medicine kuthathwe kabili ngosuku). Leli thuluzi kuyasiza ikakhulukazi ezimweni lapho izingane ezichazwe isithuthwane livela nokuquleka generalized futhi paroxysms of Ukudlikizela nge ziguquka zisuka nengxenye eyodwa umzimba kwenye (gemikonvulsiyami).

I ukwakhiwa ezilandelayo ukuze monotherapy - a esuselwe ka valproic acid (isiraphu "Konvuleks", "Konvulsofin", njll ...) - siyasebenza ikakhulukazi usuke ungekho atypical futhi myoclonus, futhi barbituric acid ( "Phenobarbital") asetshenziswa Ukudlikizela generalized nge propensity wamanje isimo. Phela, kulokhu, futhi waphawula kahle eliphezulu bromides.

Uma kunesidingo, sebenzisa inhlanganisela yemithi. Indlela ephumelela kakhulu wabo inhlanganisela valproate nge izindlela "topiramate".