Syndrome Dravet. haurangi myoclonic Taumaha o kōhungahunga

I roto i te mau faaiteraa ngā o te haurangi tamarikitanga Dravet syndrome ko te wahi motuhake, me te ko pea te disorders tino nui, me te ora-te whakawehi o te tamaiti. faaite tenei syndrome ake i roto i te tuatahi o nga tau o te ora te tamaiti, me te maha arata'i ki te rangirua nui o te whanaketanga tona whakamātau tinana, a i roto i ētahi wā - me te mate. Ko tenei tino he mate onge me ona tohu matua me maimoatanga, a ka aparau i tatou i roto i tenei tuhinga.

I roto i ētahi wā, tohu te aroaro o Dravet syndrome?

e kore he Dravet syndrome noa - tuhia e tenei mate, ko te kaupapa ki te 1 tangata ia 40 mano hou (me hanga tamariki ake e pā ana ki 66% o nga take) .. Ko tenei, i te ara, arata'i ki te meka e tātaritanga tika, i te tahi taime kitea ngā tākuta reira uaua ki te tāuta me te, kupu, ngaro wa tino te. A, no ka karangatia e syndrome, kahore tiaki therapy te tikanga worsens huru o te tamaiti ki te tau.

Ki te kahore he he pēpē e kore nei e uru te tau, pāngia auau ki rangatū tūnga ranei i roto i (ie. E., whai ratou tetahi ki tetahi, a kore e te manawanui i roto i nga ngā āputa haere mai ki te ngakau) a hoki ātete ki te mahi o te raau taero anticonvulsant, e taea te whakapae syndrome Drava.

maha tamariki ki tenei i aroraa maha i roto i te ra, a ka pumau tenei huru hoki e pā ana ki te wiki. Na ka korerotia te ano te faataoto mo o wiki i te tokorua, me nga mea katoa.

epilepticus Tūnga ki Dravet syndrome - he āhuatanga tika noa. kia haere tahi ia i haehae kia kore-takiri ranei, he kaha rerekē ngangau o mahara ki te myoclonia segmental (nohopuku aitua, uaua).

Dravet syndrome: take

Ko te take matua o te syndrome whakaahuatia e te kairangahau karanga te predisposition ira, ara - te aroaro i roto i ngā irakētanga ira konutai hongere o te manawanui.

āhuatanga whakahōhā hoki te tīmatanga o te huru whakaahuatia i roto i nga kohungahunga kirika maha mahi i roto i te mate, tango i te pati wera, pukā. Hoki, ka taea e te mea nui (rama e rarapa, te whakawhiti i te ruma pouri ki te marama tahuna, a na i runga i. N.) rohirohi whakaongaonga marama ranei. Me kï reira e tenei katoa me i te tau e whai ake nei ka waiho kino ora o te manawanui, meinga ngā patua i runga i te mana hoki reira.

Dravet syndrome: Tohu

Ka taea te pēnei te mau faaiteraa matua o Dravet syndrome, me rahi me te whakatakiruatanga o hukihuki. E āhuatanga haurangi wāhi i roto i taua i te excitation rohe, whakapataritari ratou tupu, he kotahi anake te wahi o te roro. I roto i te take o te mahi pathological o neurons i roto i tuakoi e rua ko reira he ärai whānui.

maha e Polymorphic i roto i te āhua haehae i Dravet syndrome. Tamaiti i roto i te tau e ite ai clonic (ki te huringa i roto i te reo uaua), toniki (e he spasm uaua tika te roa), me te whānui haurangi myoclonic.

E mea pinepine i reira e ano patua i roto i te puka o ngaro mohiotia - tikanga i roto i nei mahara o te tamaiti, ko te kore e wāhanga tino ranei urupare ki te taiao. Ka taea e te koati kōpā i te wa, titiro i tetahi wāhi, niao ki hoki, he maturuturunga iho ohorere ranei tika maturuturu e i roto i ona ringa.

Nuinga o ngā wā hukihuki whakahuatia puta i roto i oho, me te i roto i te āhua kia mataara (he moemoea i roto i, tuhia ratou% 3 anake o tūroro ki tenei tātaritanga).

Me pēhea te ki te whakawhanake i mau faaiteraa haumanu o Dravet syndrome?

Ka rite ki te tikanga, āhuatanga Dravet syndrome e te meka e te tohu whakahuatia i runga ake puta i roto i te tetahi raupapa. Doctors wehewehe i waenganui i toru wā nui o te mate.

1. He wā āhua ngawari, me te ahua o hukihuki clonic (nohopuku tākiri, tetahi i muri i te tahi atu, i muri i te wā poto o te wā). Ka rite ki te āhuatanga whakapataritari, rite ki te tikanga, tu te reira i te pāmahana ara i roto i te tamaiti, engari i roto i te heke mai ratou e taea whakatika a takitahi o reira.
2. Rising pukuriri - ki te haerenga mai o maha haurangi myoclonic. He maha ratou febrile (t. E. Tei runga i te hua pāmahana) ka tono ki te kātua me topito. Hoki hukihuki myoclonic uru haurangi ngaro mohiotia me haurangi ngahunga matatini.
3. wā Pateko i roto i nei te whakaeke ngoikore, i te tamaiti tonu te disorders neurological me hinengaro nui.

Ko te tohu matua o te nui haurangi myoclonic o tamarikitanga

Rite ki ta matou, i roto i te tirohanga o te meka e te syndrome Dravet - he mate onge, maha i nga tohunga uaua i roto i Tātarihia te reira. Na reira, he nui ngā mātua ki te whakarato i ngā mōhiohio tika e pā ana ki te whanaketanga o te huru pathological o te tamaiti. kia whakapae ai syndrome ingoa ki te reira e wātea ana nga āhuatanga e whai ake nei:

• kua ahu whakamua te mate ki tetahi tau o tau;
• haurangi polymorphous (.. arā ratou faaiteraa kanorau);
• e kore te whakaeke mutu fariiraa anticonvulsants angamaheni;
• te takanga o hukihuki e here ana ki te hua i roto i te pāmahana te tinana o te tamaiti;
• te tamaiti roa whanaketanga kite (taea te whakahuatia tenei āhuatanga i roto i rerekē nekehanga);
• tohu ataxia korerotia (nekehanga raskoordinirovannosti);
• e kore e taunakitanga MRI whakaū i te aroaro o te mate (rawa i te timatanga o te mate);
• Tirohia te - tērā o te manawataki papamuri me maumaui multifocal tukuna titaha me ngaru puhoi.

I tua atu ki enei tohu mo te nuinga o te āhuatanga e te aroaro o te te totoa me aro pahara tamariki ki Dravet syndrome.

Matapae o te whanaketanga o Dravet syndrome

Ko te tikanga kino matapae nui haurangi myoclonic. tūroro katoa pāngia ki Dravet syndrome kite retardation hinengaro, me te hawhe o reira he taimaha. I muri i te tau o wha tūroro i reira ko te ino ahu whakamua, me te whanaketanga o abnormalities whanonga, tae atu ki āhotea.

Kia aroha mai, whakamate i te pathologies whakaahuatia he hoki tiketike rawa - ki runga ki te 18%, ka faatupu te reira i te aituā tino auau i roto i hukihuki tūnga epilepticus ranei.

I roto i te tikanga ki te whakaiti i te tūponotanga o nunu'a mamafa i roto i te ärai o te tamaiti, Me he pai te māramatanga o te āhua o ki te whakarato āwhina tuatahi mō ngā hukihuki ngā mātua.

Me pēhea te ki te whakarato āwhina tuatahi mō ngā hukihuki meinga e pāmahana teitei?

Ki te he haurangi te tamaiti i roto i te whakautu ki te ara i roto i te pāmahana (e, rite koutou kia haamana'o, tenei mate ko tetahi o nga āhuatanga matua), mau te ture e whai ake nei:

• Takoto te tamaiti i runga i te mata papatahi;
• whakarato rangi hou;
• horoi mangai o te hūpē o te pēpi;
• tahuri upoko o te tamaiti ki te tetahi taha;
• Whakapau ngā mahi antipyretic.

Ki te mea kua whakahuatia i te tamaiti, he kirika, e ko, tona rae wera, toona tona mata, na kia hāngai āwhina tuatahi mō hukihuki i whakaiti i te pāmahana (kōpeke mākū makariri i runga i te rae, matao ki te peke, me te i roto i te kopu, te rubdown tinana ki te wai me te winika i roto i te ōwehenga o te 1 1, antipyretics).

Ki te te koati i runga i te papamuri kiri pāmahana tiketike o he koma, ngutu he kikorangi, me te matikara, Chills, waewae matao me kapu, te rubdown me kokopi matao e kore e tika kia meatia. kia hoatu e kōhungahunga mahana antipyretics, me papa "No-kaukau" ranei "Papaverine" te tere o te 1 mg ia 1 kg taimaha tinana mo te vasodilatation.

Āwhina ka tohatoha hukihuki haurangi

I roto i te hui o te ärai haurangi tohatoha ki whānui haehae clonic me toniki o kia te tamaiti:

• whakatakotoria i runga i te mata papatahi;
• i raro i ki te matenga rāihe te tahi mea ngohengohe, kihai te tamaiti i whawhai ai;
• whakarato te horomanga rangi hou;
• horoi i te waha me te korokoro o te hūpē;
• tahuri tou upoko ki tetahi taha;
• pāhono i tetahi wahi o te kahu ki te kono, me te kōkuhu i reira i waenganui i nga niho ki te aukati i ngau i te arero me ngutu, rite ai te tamaiti o te tau hei te ahanoa totoka (te koko, he rakau) ki te wahi i ona niho;
• horoia puta mangai pahuka i tauera;
• ki te kia e i roto i te aroraa e kore e te tamaiti hit i runga i te tahi mea.

Ki te tango haehae te ahua o te mana, kia tino ki te karanga "waka tūroro."

te mau parau tumu Basic o maimoatanga o ngā tamariki ki te syndrome a Dravet

heke maimoatanga tamaiti mate o te mate whakapōturinga whakaahuatia te ki te ārai i te whanaketanga o haurangi, me ratou ahua mana.

A, no te katia te tātaritanga o te maimoatanga "syndrome Dravet" te whakamahi o mohiotia whānuitia raau taero antiepileptic: "Carbamazepine", "Finlepsin", "Phenytoin" me "lamotrigine" mai ratou kē anake huru o te manawanui, pūhui i roto i ngā puka tīariari o hukihuki.

I tua atu ki te maimoatanga tarukino whakahauanga, he nui te reira ki te mau i roto i te ngakau te ārai o te kirika, mai te mea te reira te kāwanatanga tino kino ki te manawanui. Hei aukati whakaeke whakapataritari o whakaongaonga marama i tapaea ki te kakahu mōhiti ki arotahi puru kotahi karaihe mauherea ranei.

Dravet syndrome Drug Therapy

Ki te whakapumautia te tātaritanga te, tīmata maimoatanga ki te tīmatanga o te tarukino "Topiramate". Kei te whakaritea te reira i horopeta o 12.5 mg / ra., Ina e whakanui ake ki te 3-10 mg / kg / ra. (Medicine tangohia rua he ra). He tino pai i roto i te wā i reira fakamatala'i tamariki puta haurangi haurangi te whakatakiruatanga o me paroxysms o haehae ki whakawhiti i tetahi hawhe o te tinana ki tētahi atu (gemikonvulsiyami) tenei taputapu.

Ko te formulations e whai ake nei mō te monotherapy - he pärönaki o waikawa valproic (tirikara "Konvuleks", "Konvulsofin", aha ...) - he tino whai hua i roto i ngaro mohiotia, me te myoclonus, me te waikawa barbituric ( "Phenobarbital") e whakamahia ana i roto i haehae whānui ki keno ki te nāianei tūnga. Ratau, i roto i tenei take, a ka tuhia kakama tiketike o bromides.

Ki te tika, te whakamahi i te huinga o taero. Ko te whai hua te nuinga o ratou ko te huinga o te valproate ki te tikanga "topiramate".