Tej zaum koj yuav tau pom tias koj tus me nyuam lub taub hau loj dua li lwm tus menyuam yaus hnub nyoog li nws, puas yog? Tej zaum cov kaus mom thiab cov phuam qhwv caj dab uas koj tus menyuam hnav me heev uas nws nyuaj rau nrhiav qhov loj me rau nws lub hnub nyoog. Qhov no puas yog qhov xwm txheej xwb, lossis nws puas yog ib yam dab tsi uas peb yuav tsum txhawj xeeb me ntsis? Hnub no peb tab tom tham txog ib qho mob hu ua "Megalencephaly", tseem hu ua "Macrencephaly", uas tej zaum yuav tseem ceeb rau koj thaum lub sijhawm zoo li no.
Yog li ntawd, qhov "megalencephaly" no yog dab tsi?
Hais yooj yim xwb, "Megalencephaly" yog ib qho mob uas koj tus menyuam lub hlwb loj dhau . Qhov no feem ntau tshwm sim thaum yug los. Qhov tshwm sim ntawm no yog tias lub hlwb nws tus kheej hnyav dhau. Uas yog, lub hlwb hnyav dua li qhov xav tau rau tus menyuam lub hnub nyoog thiab qhov loj ntawm lub cev.
Ib qho ntawm cov cim qhia thawj zaug ntawm qhov no yuav yog lub taub hau loj heev. Koj tus menyuam yuav tsis tuaj yeem hnav lub kaus mom lossis cov phuam qhwv caj dab uas haum rau lawv lub hnub nyoog vim tias lawv me dhau.
Muaj lub hlwb loj qee zaum yuav cuam tshuam rau tus menyuam txoj kev loj hlob. Qhov no txhais tau tias lawv yuav muaj qee qhov kev qeeb ntawm kev loj hlob. Piv txwv li, lawv yuav qeeb dua li qhov xav tau los hais lawv thawj lo lus, nkag, lossis taug kev.
Feem ntau, qhov mob no hu ua "Megalencephaly" tshwm sim nrog rau lwm yam mob. Qhov ua rau qhov no yog kev hloov pauv ntawm caj ces.
Cov hom mob "(Megalencephaly)" tseem ceeb yog dab tsi?
Muaj peb hom mob no tseem ceeb:
1. Mob taub hau loj thawj zaug: Qhov no kuj hu ua Benign Familial Megalencephaly lossis Idiopathic Megalencephaly. Hauv qhov no, tus menyuam muaj lub hlwb loj, tab sis tsis muaj lwm yam tsos mob lossis teeb meem ntawm lub paj hlwb. Feem ntau, ib lossis ob leeg niam txiv kuj tseem yuav muaj lub taub hau loj. Koj tus menyuam lub taub hau loj tuaj yeem nce maj mam mus txog thaum muaj hnub nyoog li 18 lub hlis, tom qab ntawd nws yuav ruaj khov.
2. Metabolic Megalencephaly: Qhov no yog tshwm sim los ntawm kev ua yuam kev hauv lub cev, ib pawg ntawm cov mob caj ces uas cuam tshuam rau txoj kev uas peb lub cev ua zaub mov.
3. Anatomic Megalencephaly: Hom no yog tshwm sim los ntawm kev hloov pauv ntawm cov noob caj noob ces uas cuam tshuam rau kev loj hlob ntawm tus menyuam lub paj hlwb. Qhov no suav hais tias yog kev puas tsuaj ntawm lub hlwb. Tus mob hu ua Megalencephaly feem ntau pom tias yog ib qho tsos mob ntawm ib qho kab mob hauv qab no.
Tus kws kho mob uas kho koj tus menyuam yuav txiav txim siab seb hom kab mob megalencephaly yog dab tsi raws li sab twg ntawm lub hlwb (hemisphere) loj dua li qhov xav tau:
- Ib sab loj (Hemimegalencephaly / Unilateral Megalencephaly):Qhov tshwm sim hauv qhov no yog tias tsuas yog ib sab ntawm lub hlwb loj dua li lwm sab.
- Bilateral Megalencephaly: Qhov no cuam tshuam rau ob sab ntawm lub hlwb. Bilateral txhais tau tias "ob sab."
Cov tsos mob ntawm tus mob no yog dab tsi?
Cov tsos mob ntawm megalencephaly tuaj yeem sib txawv. Qee tus menyuam yaus yuav tsis muaj tsos mob thiab tsuas yog lub taub hau loj xwb. Txawm li cas los xij, qee tus menyuam yaus yuav muaj cov tsos mob xws li:
- Kev loj hlob qeeb: Kev qeeb hauv tej yam xws li kev hais lus thiab kev taug kev, raws li peb tau hais lawm.
- Kab mob qaug dab peg ('Seizures' / 'Epilepsy'): Qhov no txhais tau tias muaj mob zoo li qaug dab peg.
- Teeb meem ntawm lub paj hlwb: Kev ua haujlwm tsis zoo ntawm lub hlwb thiab tus txha caj qaum.
Qee zaum, megalencephaly tuaj yeem tshwm sim nws tus kheej yam tsis muaj tsos mob. Lwm lub sijhawm, nws tuaj yeem tshwm sim nrog rau lwm yam teeb meem ntawm lub paj hlwb thiab kev yug los tsis zoo. Hauv cov rooj plaub no, megalencephaly yog tshwm sim los ntawm lwm yam kab mob lossis mob ntawd.
Lwm cov tsos mob uas yuav pom tau yog:
- Lub taub hau loj lossis asymmetrical.
- Kev tsis taus ntawm kev txawj ntse.
- Muaj teeb meem nrog kev txav mus los thiab kev sib npaug.
- Cov leeg nqaij tawv lossis tsis muaj zog.
- Kev hloov pauv ntawm kev pom kev.
Yog li ntawd, dab tsi ua rau qhov no?
Mob hlwb loj heev yog tshwm sim los ntawm qhov tsis zoo ntawm txoj kev uas koj tus menyuam lub hlwb loj hlob. Nws xav tias feem ntau yog tshwm sim los ntawm kev hloov pauv caj ces .
Cov txheej txheem uas cov neurons tshiab, lossis cov hlwb hlab ntsha, tau tsim nyob rau hauv peb lub cev hu ua '(Neuron proliferation)'. Feem ntau, peb lub cev tswj cov txheej txheem no, tsim cov hlwb hauv qhov ntau thiab tsawg, thiab lub sijhawm. Tab sis rau ib tug menyuam uas muaj '(Megalencephaly),' cov hlwb no tau tsim ntau dhau, lossis lawv tsis mus rau qhov chaw zoo. Qhov no tuaj yeem tshwm sim thaum tus menyuam tab tom loj hlob hauv plab lossis ua ib feem ntawm lwm yam mob.
Muaj lwm yam kab mob dab tsi tshwm sim nrog tus mob no?
Megalencephaly tuaj yeem tshwm sim nrog ntau lwm yam kab mob thiab cov tsos mob, nyob ntawm nws hom thiab keeb kwm caj ces.
Cov kab mob cuam tshuam nrog Anatomic Megalencephaly:
Hom no feem ntau pom tias yog ib qho tsos mob ntawm cov mob hauv qab no:
- `(Achondroplasia)`
- (Bannayan-Riley-Ruvalcaba syndrome).
- `(Greig cephalo-polysyndactyly syndrome)`
- `(Opitz–Kaveggia syndrome)`
- `(Pretzel syndrome)`
- `(Simpson-Golabi-Behmel syndrome)`
- `(Sotos syndrome)`
- `(Tus mob Weaver)`
Cov kab mob cuam tshuam nrog Metabolic Megalencephaly:
Koj tus menyuam tej zaum yuav muaj teeb meem loj heev nrog rau kev ua tsis tau zoo ntawm lub cev zom zaub mov. Cov no yog cov teeb meem nrog txoj kev uas lub cev zom zaub mov thiab siv zog. Cov no tuaj yeem suav nrog cov mob xws li:
- Kev tsis zoo ntawm cov organic acids ('Organic acidurias').
- Cov kab mob metabolic encephalopathies, xws li kab mob Canavan thiab kab mob Alexander.
- Cov kab mob lysosomal cia, xws li kab mob Tay-Sachs thiab kab mob Sandhoff.
Leej twg muaj feem yuav raug qhov no tshaj?
Ib qho mob hu ua "Megalencephaly" tuaj yeem cuam tshuam rau txhua tus menyuam. Tab sis nws feem ntau tshwm sim rau cov tub hluas . Qee zaum, nws tuaj yeem tau txais los ntawm tsev neeg, lossis nws tuaj yeem tshwm sim "qee zaum" yam tsis muaj laj thawj pom tseeb.
Yuav kuaj mob li cas? ('Kev kuaj mob')
Tej zaum koj tus menyuam tus kws kho mob yuav xav tias muaj teeb meem loj heev tom qab kuaj koj tus menyuam thiab ua ob peb qhov kev kuaj. Thaum kuaj koj tus menyuam, tus kws kho mob yuav ntsuas qhov ncig ntawm koj tus menyuam lub taub hau nrog daim kab xev ntsuas. Tom qab ntawd, lawv yuav piv qhov kev ntsuas ntawd nrog cov nqi ib txwm rau tus menyuam hnub nyoog, poj niam txiv neej, thiab qhov siab.
Tsis tas li ntawd xwb, tus kws kho mob kuj tseem yuav kom kuaj duab xws li MRI, los saib tus menyuam lub hlwb thiab nrhiav tej yam tsis zoo.
Xav txog nws li no: MRI zoo li thaij duab sab hauv ntawm lub hlwb. Nws tso cai rau tus kws kho mob pom meej meej txog cov duab, qhov loj me, thiab txhua yam kev hloov pauv hauv lub hlwb.
Yog koj tus kws kho mob xav tias muaj lwm yam mob uas cuam tshuam nrog rau megalencephaly, lawv yuav tsum tau ua lwm yam kev kuaj mob kom paub tseeb tias muaj tus kab mob no. Cov kev kuaj mob ntxiv no yuav suav nrog:
- Kev kuaj ntshav.
- Kev kuaj zis.
- Kev kuaj noob caj noob ces.
Feem ntau yuav kuaj pom tus mob no thaum twg?
Qee zaum, cov niam txiv thiab cov kws kho mob pom tias tus menyuam lub taub hau loj tom qab yug los lossis hauv ob peb lub hlis thawj zaug. Tus mob (megalencephaly) kuj tseem tuaj yeem tshwm sim thaum tus menyuam loj hlob, feem ntau yog thaum yau thiab thaum yau.
Qee zaum, txawm tias thaum lub sijhawm kuaj ultrasound thaum cev xeeb tub, unilateral megalencephaly (kev loj hlob ntawm ib sab ntawm lub hlwb) tuaj yeem pom.
Cov kev kho mob rau qhov no yog dab tsi?
Tam sim no tsis muaj tshuaj kho tau tus kab mob megalencephaly. Txawm li cas los xij, muaj cov kev kho mob uas tuaj yeem pab koj tus menyuam tswj lawv cov tsos mob. Nyob ntawm seb koj tus menyuam cov tsos mob li cas, koj tus kws kho mob yuav pom zoo cov hauv qab no:
- Yog tias muaj qaug dab peg, yuav muab cov tshuaj tiv thaiv qaug dab peg lossis, yog tias tsim nyog , yuav phais mob qaug dab peg .
- Koom nrog kev kho mob xws li kev kho qhov muag, kev kho lub cev, kev kho mob ua haujlwm, lossis kev kho kev hais lus.
- Kev sau npe kawm cov kev pab cuam thaum ntxov lossis cov chav kawm tshwj xeeb hauv tsev kawm ntawv.
Leej twg yuav yog tus saib xyuas koj tus menyuam?
Yuav muaj ib pab neeg saib xyuas zoo los pab koj tus menyuam tswj cov tsos mob ntawm megalencephaly. Pab neeg no yuav suav nrog:
- Cov kws kho mob menyuam yaus.
- Cov kws kho mob hlwb.
- Cov kws phais hlwb.
- Cov kws tshwj xeeb hauv kev loj hlob.
- Cov kws kho kev hais lus, cov kws kho mob ua haujlwm thiab cov kws kho lub cev.
Yog muaj qhov xwm txheej no, tus menyuam lub neej yav tom ntej yuav zoo li cas?
Koj tus menyuam txoj kev xav nyob ntawm ntau yam. Piv txwv li, cov tsos mob hnyav npaum li cas thiab qhov ua rau muaj yog dab tsi. Koj tus menyuam yuav tsis muaj lwm yam tsos mob tsuas yog lub taub hau loj me ntsis xwb. Los yog, cov tsos mob yuav cuam tshuam rau koj tus menyuam txoj kev loj hlob. Piv txwv li, lawv yuav xav tau kev pab ntxiv nrog cov haujlwm txhua hnub lossis xav tau kev pab nrog kev kawm hauv tsev kawm ntawv.
Qhov tseem ceeb tshaj plaws yog txhua tus menyuam txawv. Yog li ntawd, tsuas yog tus kws kho mob uas kho koj tus menyuam thiaj li muab tau cov ntaub ntawv tseeb tshaj plaws txog koj tus menyuam tus mob thiab yav tom ntej.
Lub neej cia siab ntawm tus kab mob "(Megalencephaly)" yog dab tsi?
Yog tias tus mob tsis hnyav heev, uas yog, yog tias nws tsis hnyav heev, nws yuav tsis muaj kev cuam tshuam loj rau tus menyuam lub neej ntev. Txawm li cas los xij, nyob ntawm qhov ua rau muaj, piv txwv li, yog tias tus mob muaj lwm yam mob hnyav nrog, tus menyuam lub neej ntev yuav luv dua me ntsis. Cov tsos mob hnyav, xws li qaug dab peg, kuj tuaj yeem cuam tshuam rau tus menyuam yav tom ntej. Koj tus kws kho mob tuaj yeem muab cov ntaub ntawv rau koj txog tus mob ntawm koj tus menyuam thiab yam uas yuav tshwm sim thaum nws loj hlob.
Puas muaj ib txoj kev los tiv thaiv qhov teeb meem no?
Tam sim no tseem tsis tau muaj ib txoj kev los tiv thaiv kom tsis txhob muaj tus kab mob megalencephaly. Txawm li cas los xij, yog tias koj paub ib tug neeg hauv koj tsev neeg muaj tus kab mob no lossis muaj kev xav tias muaj teeb meem, koj tuaj yeem tham nrog tus kws pab tswv yim txog caj ces. Lawv tuaj yeem pab koj ntsuas koj qhov kev pheej hmoo ntawm kev muaj menyuam uas muaj tus kab mob megalencephaly.
Thaum twg koj yuav tsum mus ntsib kws kho mob?
Yog tias koj tus menyuam muaj cov tsos mob tshiab lossis cov tsos mob hnyav zuj zus ntawm megalencephaly, qhia rau koj tus menyuam tus kws kho mob. Nws tseem ceeb heev uas yuav tsum khaws cov ntaub ntawv ntawm koj tus menyuam txoj kev loj hlob thiab qhia rau koj tus kws kho mob paub yog tias koj tus menyuam tsis ua tiav cov hom phiaj tseem ceeb ntawm kev loj hlob (piv txwv li, zaum tsis muaj kev pab, hais lus thawj zaug) rau lawv lub hnub nyoog.
Yog koj tus menyuam muaj qaug dab peg thawj zaug, hu rau cov kev pabcuam thaum muaj xwm txheej ceev tam sim ntawd.
Qhov txawv ntawm '(Macrocephaly)' thiab '(Megalencephaly)' yog dab tsi?
`(Macrocephaly)` kuj hu ua `(Megacephaly)` lossis `(Megalocephaly)`, vim tias lub taub hau loj. Hauv `(Macrocephaly)`, ib tug menyuam yuav muaj lub taub hau loj, tab sis tsis tas yuav muaj teeb meem nrog cov qauv ntawm lub hlwb.
`(Megalencephaly)` (lub hlwb loj) tuaj yeem ua rau `(Macrocephaly)` (lub taub hau loj). Txawm li cas los xij, `(Macrocephaly)` kuj tuaj yeem ua rau `(hydrocephalus)` lossis `(hydrocephalus)`. Hais yooj yim, `(Megalencephaly)` tsuas yog ib qho ua rau `(Macrocephaly)`.
Qhov no yog dab tsi (Megalencephaly-capillary malformation - MCAP)?
Megalencephaly-capillary malformation (MCAP) yog ib qho mob tsis tshua muaj uas muaj kev loj hlob ntau dhau ntawm daim tawv nqaij, cov hlab ntsha, cov ntaub so ntswg sib txuas, thiab cov ntaub so ntswg hauv lub hlwb.
Feem ntau cov kws kho mob kuaj pom tus mob "(MCAP)" thaum yug los. Cov menyuam yaus uas yug los muaj "(MCAP)" muaj cov tsos mob no:
- Lub hlwb loj ('Megalencephaly').
- Ib lub taub hau loj ('Macrocephaly').
- Cov hlab ntsha me me (capillary malformations) - Cov no yog cov teeb meem ntawm cov hlab ntsha me me.
Qhov no yog dab tsi (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus - MPPH)?
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) yog ib qho mob uas cuam tshuam rau txoj kev uas koj tus menyuam lub hlwb loj hlob. Lawv yuav muaj lub hlwb loj (megalencephaly), thiab nws yuav loj hlob sai thaum ob xyoos thawj zaug ntawm lub neej. Qhov no tuaj yeem cuam tshuam rau tus menyuam txoj kev loj hlob, kev txav mus los, thiab kev txawj ntse.
Thaum kawg, qhov tseem ceeb tshaj plaws! (Cov Lus Coj Mus Tsev)
Yog tias koj tus menyuam lub taub hau loj dua li lwm qhov ntawm nws lub cev, nws yog ib qho ib txwm yuav txhawj xeeb. Nws yuav siv sijhawm ntev rau koj tus menyuam kom tsa nws lub taub hau ntawm nws tus kheej lossis kom muaj zog zaum ncaj. Pab neeg saib xyuas koj tus menyuam yuav ua qhov kev kuaj mob kom paub tias vim li cas koj tus menyuam lub hlwb loj dua li qhov xav tau.
Nco ntsoov tias, lub taub hau loj tsis yog ib txwm txhais tau tias yog teeb meem loj. Qee zaum, megalencephaly yog qhov mob me me thiab tsis muaj dab tsi yuav tsum txhawj txog. Ntawm qhov tod tes, qee tus menyuam yuav xav tau kev pab thiab kev txhawb nqa mus tas li kom tswj tau lawv cov tsos mob. Qhov mob no tsis cuam tshuam rau txhua tus menyuam tib yam. Kawm ntxiv txog koj tus menyuam qhov kev kuaj mob thiab yam yuav tsum tau cia siab rau yav tom ntej.Cov ntaub ntawv tseeb tshaj plaws uas koj tuaj yeem tau txais yog los ntawm tus kws kho mob uas kho koj tus menyuam. Tsis txhob ntshai nug lawv cov lus nug thiab tham txog txhua yam uas koj xav txog.
👩🏽⚕️ Cov Lus Nug Ntxiv (FAQs)
💬 Kev tsis muaj menyuam puas yog teeb meem uas tsuas cuam tshuam rau cov poj niam xwb?
Qhov ntawd yog zaj dab neeg loj tshaj plaws! Kev tsis muaj menyuam tsis yog ib qho teeb meem ntawm poj niam xwb. Raws li cov ntaub ntawv kho mob, 1/3 ntawm cov teeb meem uas ua rau tus poj niam tsis muaj menyuam yog los ntawm tus poj niam, thiab lwm 1/3 yog los ntawm tus txiv neej. 1/3 seem yog los ntawm cov teeb meem uas ob tog sib ntsib lossis tej yam tsis paub meej. Yog li ntawd, ob tog yuav tsum koom nrog kev kho mob.
💬 Peb puas yuav tsum mus ntsib kws kho mob yog tias peb tsis tau muaj menyuam tom qab peb sim muaj menyuam ntev lawm?
Yog tias tus poj niam hnub nyoog qis dua 35 xyoo, thiab tsis tau xeeb tub tom qab ib xyoos ntawm kev sib deev tas li yam tsis tau siv txoj kev tswj kom tsis txhob muaj menyuam, nws yuav tsum mus ntsib kws kho mob. Txawm li cas los xij, yog tias leej niam hnub nyoog tshaj 35 xyoo, tsis txhob tos ib xyoos, tab sis mus ntsib kws kho mob tshwj xeeb tom qab 6 lub hlis thiab mus kuaj mob.
💬 Kev haus luam yeeb thiab haus dej cawv cuam tshuam li cas rau tus txiv neej txoj kev muaj menyuam?
Qhov no yog hom kev puas tsuaj phem tshaj plaws! Kev haus luam yeeb thiab haus dej cawv tsis yog tsuas yog txo tus txiv neej cov phev xwb, tab sis kuj ua rau nws lub cev tsis txav mus los. Qhov txaus ntshai tshaj plaws yog tias cov tshuaj lom hauv luam yeeb tuaj yeem hloov pauv DNA hauv phev, ua rau puas tsuaj mus tas li rau kev xeeb tub.
` Megalencephaly, Macrencephaly, taub hau loj, tus menyuam lub taub hau loj, lub hlwb loj, cov kab mob rau menyuam yaus, cov kab mob caj ces, kev loj hlob qeeb
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Tsis muaj lus teb tau muab tso tawm. Ntxiv koj cov lus tawm ntawm no thawj zaug.
Ntxiv koj cov lus