West Syndrome yog ib qho nyuaj ntawm kev tshwm sim ntawm ib qho mob hnyav heev uas tshwm sim hauv cov menyuam yaus thiab yog qhov ua rau lub hlwb puas. Qhov zoo tshaj plaws kos npe rau ntawm no pathology yog ib tug pronounced lag nyob rau hauv lub hlwb kev loj hlob. Tsis tas li, tus kab mob no yog tus cwj pwm los ntawm cov tsos mob nyuaj: tsis muaj zog txav hauv daim ntawv ntawm nods thiab ceev qaij ntawm lub cev, uas los ntawm lawv qhov xwm txheej sawv cev rau qhov rov ua dua ntawm cov leeg nqaij ntawm ib leeg lossis muaj tus cwj pwm dav dav. Lawv tshwm sim thaum tsaug zog los yog thaum sawv ntxov. Electroencephalography tib lub sijhawm kho qhov tseeb hypsarrhythmia, uas yog qhov txawv txav ntawm lub hlwb ua haujlwm siab.
Kev piav qhia tus kab mob
Tus kab mob feem ntau tshwm sim nws tus kheej thaum tseem me nyuam mos, feem ntau ntawm qhov tshwm sim tshwm sim ua ntej hnub nyoog ib xyoos.
Kev kuaj mob yog raws li kev soj ntsuam ntawm cov tsos mob, uas tau lees paub ntxiv los ntawm cov txiaj ntsigxam tomography, magnetic resonance imaging, nrog rau cov txiaj ntsig ntawm EEG (electroencephalography). Kev kho mob yog nqa tawm nrog kev pab los ntawm cov tshuaj antiepileptic, tshuaj ntawm pawg steroid. Kev cuam tshuam kev phais kuj tseem yuav tsum tau tshem tawm ib feem ntawm lub hlwb uas muaj kev tsom mus rau epiactivity.
Keeb kwm me ntsis thiab txheeb cais
Thawj zaug, West syndrome peb tab tom txiav txim siab tau pom thiab piav qhia los ntawm tus kws kho mob uas muaj lub npe tib yam hauv xyoo 1841. Nws tau pom cov tsos mob hauv nws tus menyuam thiab muab lawv tso rau hauv ib qho kev sib cais, uas tau ua tom qab. mus rau hauv ib qho kev kuaj mob sib cais. Txij li thaum cov kab mob no tshwm sim hauv me nyuam mos, spasmodic thiab paroxysmal manifestations ntawm nws yog hu ua infantile spasms. Thaum pib, tus mob no tsis tau muab cais ua ib pawg ntawm cov kab mob sib txawv, tab sis tau suav tias yog qhov txawv ntawm qhov tshwm sim ntawm cov kab mob vwm.
Nyob rau hauv nruab nrab ntawm lub xyoo pua 20th, raws li cov ntaub ntawv tau los ntawm kev kawm thiab kev tshuaj xyuas ntawm EEG cov ntaub ntawv ntawm cov neeg mob me, qhov tshwj xeeb ntawm hypsarrhythmic kev ua haujlwm ntawm lub hlwb raug txheeb xyuas, tus cwj pwm los ntawm kev sib hloov ntawm kev sib hloov qeeb qeeb. lub sij hawm nrog high-amplitude spikes. Raws li cov qauv EEG tshwj xeeb no, tus kab mob tau raug txheeb xyuas raws li cov txheej txheem kuaj mob, tshwj xeeb rau cov neeg mob hluas.
Separate Syndrome
Nrog qhov kev tshawb pom thiab kev txhim kho ntawm txoj kev kuaj mob neuroimaging, nws tau los txheeb xyuas foci ntawm cerebr altshuaj cuam tshuam los ntawm epiactivity. Nws yog cov txheej txheem tshiab no thiab cov ntaub ntawv tau txais los ntawm lawv lub hauv paus uas ua rau tsis kam xav txog West Syndrome ua ib hom kab mob vwm. Txij thaum ntawd los, nws tau pib muab faib ua epileptic encephalopathy. Yog li, hom kab mob vwm no ntawm encephalopathy tau pom tias yog ib qho kev sib cais rau menyuam yaus. Rau cov neeg laus, nws tau paub tias yog Lennox-Gastaut syndrome.
Raws li kev txheeb cais, qhov tshwm sim ntawm hom mob vwm no (West syndrome) ntawm cov menyuam yaus uas muaj cov kab mob hauv lub hlwb yog kwv yees li 2%, thiab ntawm cov neeg mob qaug dab peg, kev kuaj mob yog kwv yees li 25% ntawm txhua tus neeg mob. Qhov tshwm sim yog 2-4 tus neeg mob rau 10,000 tus menyuam mos. Hauv cov tub hluas, tus kab mob no pom ntau dua li cov ntxhais. Hauv 90% ntawm cov neeg mob, tus mob tshwm sim nws tus kheej mus txog ib xyoos, qhov siab tshaj plaws ntawm tus kab mob tshwm sim thaum muaj hnub nyoog 4 txog 6 lub hlis. Thaum muaj hnub nyoog peb xyoos, cov tsos mob spasmodic ploj tag nrho los yog ntws mus rau lwm hom mob vwm.
"Child Angels" thiab West Syndrome
Muaj ib lub zej zog ntawm cov niam txiv ntawm cov menyuam tshwj xeeb hauv Web. Hauv nws koj tuaj yeem nrhiav cov ntaub ntawv hais txog tus mob syndrome peb tau piav qhia. Cov niam txiv qhia lawv cov lus qhia txog cov tsos mob ntawm tus kab mob hauv lawv cov menyuam mos, nrog rau cov kev kho mob. Lub xaib hu ua "Children-angels". West syndrome yog ib qho kab mob uas ua rau muaj lus nug ntau ntawm cov niam txiv ntawm cov menyuam yug tshiab cuam tshuam los ntawm nws.
Etiological nta
Feem ntau yog cov tsos mob.
Thov txim, tsis muajcov ntaub ntawv tseeb ntawm etiology ntawm tus kab mob. Qhov ua rau tuaj yeem yog kab mob hauv plab (cytomegalovirus, herpetic), fetal hypoxic lesions, postnatal encephalitis, yug ntxov ntxov, asphyxia me nyuam mos, intracranial yug raug mob, postnatal ischemia, thiab lwm yam.
Ntxiv rau, nws zoo li West syndrome hauv cov menyuam yaus yuav yog qhov tshwm sim ntawm qhov txawv txav ntawm lub hlwb, xws li, piv txwv li, agenesis ntawm corpus callosum, hemimegalencephaly.
Tsis tas li ntawd, cov me nyuam mos spasms tuaj yeem muaj cov tsos mob thib ob, piv txwv li, yog qhov tshwm sim thiab cov tsos mob ntawm lwm yam kab mob, xws li phakomatosis, neurofibromatosis, Down syndrome, qee qhov kev hloov ntawm noob. Kuj tseem muaj pov thawj txuas cov menyuam mos spasms nrog phenylketonuria.
Yog vim li cas
Nyob li ntawm 10% ntawm cov neeg mob, qhov ua rau tus kab mob tsis tuaj yeem txiav txim siab, tab sis muaj cov caj ces, txij li tsev neeg keeb kwm tuaj yeem qhia pom muaj cov tsos mob zoo sib xws.
Tseem muaj ntau qhov kev xav txog kev sib raug zoo ntawm qhov tshwm sim ntawm pathology nrog kev txhaj tshuaj, uas yog nrog kev txhaj tshuaj DPT. Txawm li cas los xij, lub neej ntawm kev sib raug zoo no tsis yog qhov tseeb. Nws muaj peev xwm hais tias muaj ib qho yooj yim coincidence ntawm lub sij hawm ntawm txhaj tshuaj tiv thaiv thiab lub hnub nyoog ntawm cov thawj cov cim qhia ntawm West syndrome yog tus yam ntxwv tshaj plaws.
Cov txheej txheem pathogenetic ntawm cov me nyuam mos spasms hauv cov tshuaj niaj hnub tam sim no tsuas muaj kev ntseeg siab xwb. Raws li ib qho kev pom, West syndrome yog qhov tshwm sim ntawm kev ua haujlwm tsis zooserotonergic neurons. Lub hauv paus chiv keeb ntawm qhov kev xav no yog nyob ntawm qhov muaj cov ntsiab lus qis ntawm cov tshuaj hormone serotonin thiab nws cov metabolites.
Qhov laj thawj ntawm West syndrome tsis to taub tag nrho.
Tseem tseem muaj qhov laj thawj ntawm kev tiv thaiv kab mob uas sib cav rau kev sib raug zoo ntawm cov kab mob B thiab kab mob.
Cais, nws tsim nyog sau tseg txoj kev xav ntawm kev vam khom ntawm pathology thiab kev ua haujlwm tsis zoo ntawm lub hlwb thiab cov qog adrenal. Lub hauv paus rau qhov kev xav no yog qhov txiaj ntsig zoo ntawm kev kho mob West syndrome nrog ACTH.
Qee tus kws tshawb fawb pom qhov ua rau tus mob ua rau ntau dhau ntawm excitatory synapses thiab conductive collaterals, uas ua rau nce qib ntawm excitability ntawm cerebral cortex, thiab tsis muaj myelin, physiological rau me nyuam mos, ua rau asynchronous EEG. qauv.
Thaum tus menyuam loj hlob tuaj thiab nws lub hlwb loj tuaj, theem ntawm myelin nce, ua rau nws qhov kev cia siab poob qis. Raws li, daim duab ntawm spasmodic manifestations noticeably ploj mus: lawv txawm ploj los yog tig mus rau Lennox-Gastaut pathology.
Xav txog cov tsos mob tseem ceeb ntawm West syndrome.
Symptomatic picture
Raws li peb tau sau tseg saum toj no, tus kab mob feem ntau tshwm sim nws tus kheej thaum thawj xyoo ntawm lub neej. Muaj cov xwm txheej tom qab qhov tshwm sim thawj zaug ntawm tus mob, tab sis ntawm qhov siab kawg ntawm 4 xyoo.
Daim duab kho mob tseem ceeb yog sawv cev los ntawm cov leeg nqaij ntuag thiab lub cev thiab lub hlwb lagkev loj hlob. Nyob rau tib lub sijhawm, qhov kev ncua sij hawm ntawm kev txhim kho psychomotor nyob rau hauv feem ntau cov neeg mob muaj qhov tshwm sim thawj zaug, thiab cov tsos mob paroxysmal twb tshwm sim tawm tsam nws keeb kwm yav dhau. Txawm li cas los xij, hauv 30% ntawm cov menyuam yaus, qhov pom kev loj hlob qeeb yog ua ntej los ntawm qhov tsos ntawm paroxysm.
Feem ntau psychomotor retardation manifests nws tus kheej nyob rau hauv qhov tsis muaj los yog unmotivated extinction los yog tag nrho ploj ntawm lub grasping reflex. Tseem muaj cov xwm txheej uas tsis muaj peev xwm kho qhov ntsia ntawm ib qho khoom lossis ua raws li nws. Cov tsos mob no muaj qhov ua rau tsis zoo rau kev txhim kho ntxiv.
Ntaus nqaij spasms
Nws yog serial thiab symmetrical, lub sij hawm ncua ntawm lawv yog luv heev thiab feem ntau tsis tshaj ib feeb. Spasms yog khaus heev thaum pib ntawm kev tawm tsam, thiab thaum kawg lawv txo qis. Kev tawm tsam spasmodic tsis tuaj yeem kwv yees tau, lawv qhov zaus tuaj yeem sib txawv ntawm ib mus rau ob peb lub kaum os ib hnub. Lawv cov yam ntxwv tshwj xeeb yog kev sib txuas ntawm lub cev nruj heev rau lub sijhawm ntawm kev tsaug zog thiab lub sijhawm pw tsaug zog, thaum tus menyuam nyob nruab nrab ntawm theem ntawm kev pw tsaug zog thiab wakefulness. Lawv tuaj yeem cuam tshuam los ntawm lub suab nrov, nrawm nrawm nrawm, thiab txawm kov.
Flexion thiab txuas ntxiv
Nyob ntawm seb cov leeg nqaij twg ua rau muaj qhov tsis txaus ntseeg, cov tsos mob spasmodic tau faib ua flexion thiab extensor, tab sis feem ntau spasms yog sib xyaw. Lawv ua raws li nyob rau hauv zaus los ntawm flexion, tab sis extensor yog qhov tsawg tshaj plaws nyob rau hauv ntau zaus. Feem ntau yog menyuam yausspasms ntawm ntau hom muaj kev cuam tshuam, thaum cov duab tseem ceeb ntawm ib qho ntawm lawv tau pom. Nws tsis tuaj yeem kwv yees seb qhov spasm yuav yeej, vim nws nyob ntawm qhov chaw ntawm tus menyuam lub cev thaum lub sijhawm pib ntawm kev tawm tsam tom ntej.
Spasms tuaj yeem nyob hauv zos, uas tshwm sim feem ntau, lossis lawv tuaj yeem ua tau dav dav, uas txhais tau hais tias txhua pawg leeg sib cog lus.
Qhia txog kev sib raug zoo ntawm kev ua haujlwm ntawm cov leeg nqaij sib txawv thiab lawv cov duab kho mob:
- Convulsive flexion ntawm caj dab cov leeg ua rau lub taub hau nodding, uas yog ib qho ntawm cov tsos mob ntawm West syndrome.
- Spastic contractions ntawm cov leeg ntawm lub xub pwg girdle tshwm sim raws li ib tug shrug ntawm lub xub pwg nyom.
- Jackknife paroxysm yog qhov tshwm sim ntawm kev tsis yeem flexion ntawm cov leeg plab.
- Cov nqaij ntshiv ntawm cov nqaij ntshiv ntawm caj dab sab sauv zoo li menyuam yaus puag nws tus kheej. Kev sib xyaw ua ke ntawm hom spasm nrog rau yav dhau los ("jackknife") yog hu ua "Salaam nres". Daim duab ua ke ntawm ob hom spasms no yog nco txog kev txais tos sab hnub tuaj thiab "salaam".
- Yog tus me nyuam twb paub taug kev lawm, ces qhov mob tuaj yeem tshwm sim rau lawv tus kheej raws li hauv qab no: tus me nyuam taug kev thiab dheev ntog, tab sis tseem nco qab.
- Qee zaum muaj qaug dab peg, uas tshwm sim tam sim ntawd ntawm lub cev muaj zog.
- Kev tawm tsam ntawm lub ntsws ua pa yog tshwm sim los ntawm kev ua txhaum ntawm kev ua pa ua pa, uas yog ib qho kev phom sij tshwj xeeb.
- Muaj lwm tushom qaug dab peg, lawv tuaj yeem muaj qhov tshwm sim ntawm kev ywj pheej thiab tshwm sim ua ke nrog lwm tus.
Diagnosis
Kev kuaj mob ntawm West syndrome yog nyob ntawm peb yam:
- kev puas siab puas ntsws;
- hypsarrhythmic duab ntawm EEG qauv;
- muscle spasms.
Qhov tseem ceeb tseem ceeb yog lub hnub nyoog uas tus kab mob pib tshwm sim nws tus kheej, nrog rau kev sib raug zoo ntawm spasms nrog pw tsaug zog. Nyob rau hauv rooj plaub thaum tus kab mob tshwm sim nws tus kheej thaum lub hnub nyoog atypically lig, nws yuav nyuaj rau kev kuaj mob.
Yog tias West syndrome raug xav tias, tus menyuam raug sab laj los ntawm kws kho mob hlwb, nrog rau kev tshuaj ntsuam xyuas ntxiv los ntawm kws tshuaj caj ces thiab tus kws kho mob epilepologist. Nws yog ib qho tseem ceeb rau lub sij hawm sib txawv ntawm cov kab mob xws li benign infantile myoclonus, infantile myoclonic epilepsy, Sandifer's syndrome, uas lub taub hau ntawm lub taub hau tau hais zoo li torticollis, nrog rau cov tsos mob ntawm opisthotonus, uas zoo li spasmodic contractions, tab sis, qhov tseeb, lawv tsis yog.
EEG
EEG (interictal) ua tiav ob qho tib si hauv kev pw tsaug zog thiab thaum sawv ntxov. Nws qhia chaotic, dynamically hloov spike-yoj kev ua si nyob rau hauv ob qho tib si. EEG thaum pw tsaug zog (polysomnography) ntes qhov tsis muaj qhov haujlwm no thaum pw tsaug zog. Nyob rau theem pib ntawm tus kab mob, txog li 66% ntawm qhov chaw kho mob, EEG qhia hypsarrhythmia. Nyob rau theem tom ntej, EEG cov qauv muaj lub koom haum chaotic, thiab ntawm li 2-4 xyoos, EEG twb tau sawv cev los ntawm cov complexes. alternating ntse thiab qeeb nthwv dej. Lub EEG thaum lub sij hawm spasms muaj ib tug qauv ntawm generalized qeeb-yoj high-amplitude complexes thiab tom qab extinction ntawm kev ua si.
Yog EEG pom cov kev hloov pauv, nws feem ntau lees paub tias muaj cov kab mob hauv lub hlwb lossis nws muaj qee qhov kev tsis sib xws.
Txoj kev raug tshaj plaws rau kev kuaj pom cov kab mob hauv lub hlwb yog MRI.
Kev kho mob
Qhov kev ua tiav tiag tiag hauv kev kho mob West's syndrome hauv cov menyuam yaus yog kev siv ACTH (adrenocorticotropic hormones) rau kev kho mob qaug dab peg. Kev siv ACTH ua ke nrog prednisolone ua rau txo qis thiab txawm tias ua tiav cov leeg nqaij spasms. Nyob rau hauv lem, tus qauv EEG paub meej tias tsis muaj hypsarrhythmic yam ntxwv. Qhov tsuas yog qhov cuam tshuam ntawm kev kho mob ntawm West's syndrome yog qhov kev xaiv ntawm koob tshuaj thiab lub sijhawm ntawm kev kho mob nrog cov tshuaj no yog ib qho tseem ceeb ntawm tus kheej thiab ua rau pom tseeb. Hauv 90% ntawm cov neeg mob, kev siv cov tshuaj ntau npaum li cas ua rau muaj txiaj ntsig zoo.
Nyob rau thaum ntxov 90s ntawm lub xyoo pua 20th, tau pom muaj txiaj ntsig zoo ntawm kev kho mob nrog vigabatrin, tab sis cov txiaj ntsig ntawm cov tshuaj no tau raug pov thawj rau cov neeg mob tuberous sclerosis. Rau tag nrho cov ntawm cov neeg mob, steroid therapy tseem nyob rau hauv thawj qhov chaw. Txawm li cas los xij, qhov tsis zoo ntawm kev kho steroid yog qhov ua rau tsis zoo tshaj plaws ntawm cov tshuaj thiab qhov nyiam ntawm tus kab mob rov qab.
Anticonvulsants
Anticonvulsants kuj tseem siv rau kev kho mob, ntawm cov Nitrazepam thiab valproic acid muaj cov txiaj ntsig zoo tshaj plaws. Qee cov neeg mob tau ua tiav qhov kev kho mob zoo thaum lub sijhawm kho nrog cov tshuaj loj ntawm vitamin B6.
Thaum cov khoom siv tau lees paub txog kev puas tsuaj rau lub hlwb foci thiab qhov tsis muaj qhov zoo ntawm kev txwv kev qaug dab peg nrog tshuaj, kev cuam tshuam neurosurgical tuaj yeem raug pom zoo kom tshem tawm qhov txhab, uas yog qhov ua rau qaug dab peg. Yog tias qhov kev ua haujlwm no tsis tuaj yeem ua tau thiab yog tias tus neeg mob muaj lub siab xav mus rau cov leeg nqaij nrog kev ua tiav ntawm lub cev muaj zog (nruj nres), yuav tsum muaj callosotomy.
Puas muaj tshuaj kho rau West's syndrome? Peb yuav tham txog qhov no tom qab.
Cov qauv ntsuas ntsuas
Hauv West syndrome hauv cov menyuam yaus hnub nyoog qis dua ib xyoos, kwv yees li ib nrab ntawm cov neeg mob, cov menyuam mos spasms regress thiab ploj tag thaum muaj hnub nyoog peb xyoos. Txawm li cas los xij, hauv qhov seem 50-60% ntawm cov neeg mob, qhov kev tsis zoo txuas ntxiv ntawm cov kab mob tau pom, ua raws li kev hloov mus rau lwm yam mob vwm. Txoj kev hloov mus rau Lennox-Gastaut syndrome yog feem ntau yuav. Yog hais tias tus me nyuam mos spasms tshwm sim nyob rau hauv cov ntsiab lus ntawm Down syndrome, cov tshuaj feem ntau tsis zoo.
Txawm li cas los xij, nws tsim nyog nco ntsoov tias txawm tias nyob rau hauv qhov xwm txheej ntawm qhov ua tiav ploj ntawm cov tsos mob spasmodic, cov lus nug tseem muaj txog kev txhim kho psychomotor ntawm tus menyuam, uas, raws li peb nco qab, yog qhov tseem ceeb hauv West's syndrome. Hmoov tsis zoo, kev kwv yees ntawm cov chav kawm ntxivkab mob txawm nyob rau hauv tsis muaj paroxysmal manifestations yog poob siab. Qhov no siv rau kev lag luam hauv kev loj hlob ntawm lub hlwb thiab lub cev, uas tom qab ntawd tshwm sim nws tus kheej nyob rau hauv daim ntawv ntawm cerebral palsy, thiab nyob rau hauv daim ntawv ntawm autistic mob, thiab nyob rau hauv lub lag nyob rau hauv kev loj hlob ntawm kev txawj ntse-kev xav nyob rau hauv dav dav. Kwv yees li 70-80% ntawm cov menyuam yaus raug kev txom nyem los ntawm kev puas hlwb, thiab ib nrab ntawm cov neeg mob raug kev txom nyem los ntawm lub cev. Thiab tsuas yog ib feem me me ntawm cov neeg muaj hmoo xwb tsis muaj qhov tshwm sim loj rau kev txhim kho thiab kev loj hlob ntxiv.
Yog tias tus kab mob no tshwm sim los ntawm kev ua haujlwm tsis zoo ntawm lub cev thiab kev hloov pauv pathological hauv lub hlwb uas tsis raug kuaj xyuas thiab kho qhov phais tom qab, qhov kev cia siab yog qhov tsis zoo, suav nrog kev yuav tuag.
Yog tias muaj qhov txawv txav ntawm West's syndrome, uas yog, thaum qhov tsos ntawm spasms tsis ua ntej los ntawm cov tsos mob ntawm psychomotor retardation, qhov kev tshwm sim yog qhov zoo dua. Qhov feem pua ntawm cov menyuam yaus uas tsis muaj kev puas siab puas ntsws yog qhov siab dua thiab nce mus txog 37-44%.
Kev tshuaj xyuas txog West syndrome
Kev tshuaj xyuas txog tus kab mob no tsis sib xws. Lub sijhawm ntawm kev kuaj mob thiab kev kho mob ntawm West syndrome kuj tseem ceeb heev. Kev kuaj pom tus kab mob ua ntej thiab kev kho mob pib, qhov ua tau zoo tshaj plaws ntawm qhov kev pom zoo tshaj plaws rau kev loj hlob ntawm lub hlwb thiab lub cev ntawm cov menyuam yaus. Neurologists hais tias tag nrho cov hlwb pathologies thiab qeeb hauv kev loj hlob psychomotor yog qhov zoo tshaj plaws rau kev kho mob.kev hloov kho thaum ntxov. Tus me nyuam loj dua, qhov tsis zoo yuav tshwm sim rau nws txoj kev loj hlob.
