Puas yog ib sab ntawm koj tus menyuam lub hlwb loj dhau lawm? Cia peb kawm txog hemimegalencephaly!

Koj puas tau txhawj txog qhov zoo li cas ntawm koj tus me nyuam lub taub hau, lossis txog qhov nws mob ntau zaus? Qee zaum, tej zaum yuav muaj ib qho mob tsis tshua muaj tshwm sim los ntawm cov no. Hemimegalencephaly yog ib qho mob zoo li no. Txawm hais tias lub npe yuav zoo li nyuaj me ntsis, cia peb tham txog nws yooj yim.

Hemimegalencephaly yog dab tsi?

Hais yooj yim xwb, hemimegalencephaly yog thaum ib sab ntawm koj tus menyuam lub hlwb (cerebral hemisphere) loj dua li lwm sab. Xav txog peb lub hlwb zoo li ib lub qog loj uas muaj ob sab, ib sab laug thiab ib sab xis. Hauv qhov xwm txheej no, tsuas muaj ib sab loj dua li nws yuav tsum. Qee zaum qhov kev loj hlob no tuaj yeem txwv rau ib feem me me ntawm sab ntawd ntawm lub hlwb , lossis tag nrho sab tuaj yeem loj hlob.

Thaum ib sab ntawm lub hlwb loj zuj zus li no, lwm yam kev hloov pauv tuaj yeem tshwm sim hauv lub hlwb. Piv txwv li:

• Cov hlwb (neurons) yog ib hom hlwb (cell) hauv peb lub hlwb. Tej zaum lawv yuav tsis tau teeb tsa zoo (cytoarchitecture) lossis txheej sab saud ntawm lub hlwb tej zaum yuav tsis tau tsim zoo (cortical dysplasia).
• Lub corpus callosum uas ploj lawm los yog puas lawm: Qhov no zoo li tus choj txuas ob sab ntawm lub hlwb . Yog tias nws ploj lawm los yog puas lawm, teeb meem yuav tshwm sim tau.
• Kev loj hlob ntawm cov qhov dej uas muaj kua (ventricles) ntawm lub hlwb ntawm sab uas raug mob.

Vim tias qee qhov ntawm lub hlwb tsis tau tsim kho kom zoo li no, qaug dab peg tuaj yeem tshwm sim ntau zaus. Peb kuj hu qhov no ua qaug dab peg . Feem ntau, cov qaug dab peg no nyuaj rau tswj nrog cov tshuaj tiv thaiv qaug dab peg ib txwm muaj. Yog tias cov qaug dab peg tsis tuaj yeem tswj tau nrog cov tshuaj, ntau tus menyuam yuav tsum tau phais hlwb (phais qaug dab peg).

Puas muaj cov hom mob hemimegalencephaly tseem ceeb?

Yog, muaj ntau hom mob no tseem ceeb:

• Kab mob hemimegalencephaly uas raug cais tawm: Qhov no tsuas yog cuam tshuam rau txheej sab nraud tshaj plaws ntawm lub hlwb ntawm tus menyuam (cerebral cortex). Tsis muaj kev koom tes ntawm daim tawv nqaij lossis lwm yam kabmob.
• Syndromic hemimegalencephaly: Qhov no tsis yog tsuas yog cuam tshuam rau lub hlwb xwb, tab sis kuj cuam tshuam rau daim tawv nqaij ntawm tus menyuam thiab qee yam kab mob. Txawm li cas los xijCov tsos mob ntawm daim tawv nqaij yuav tshwm sim ntau lub hlis lossis txawm tias ntau xyoo tom qab yug los. Tsis tas li ntawd, ib sab ntawm tus menyuam lub cev yuav loj dua lwm sab (hemihypertrophy).
• Tag Nrho Lub Hlwb Puag Ncig: Hauv qhov no, tus menyuam lub hlwb cerebellum thiab qee zaum txawm tias lub hlwb qia kuj loj hlob tuaj. Qhov no tuaj yeem tshwm sim cais lossis tshwm sim ua ke.

Cov tsos mob ntawm tus mob no yog dab tsi?

Cov tsos mob thawj zaug uas koj yuav pom yog koj tus menyuam muaj "mob qaug dab peg lossis qaug dab peg rau menyuam yaus." Cov no feem ntau yog mob qaug dab peg. Qhov no txhais tau tias tsuas yog ib sab ntawm tus menyuam lub cev thiaj li yuav co.

Lwm cov tsos mob uas yuav pom muaj xws li:

• Lub taub hau loj dua (Macrocephaly).
• Lub taub hau tsis sib luag.
• Muaj teeb meem nrog kev txav mus los xws li kev taug kev thiab kev khiav.
• Mob loog thiab tsis muaj zog ntawm ib sab ntawm lub cev.
• Kev loj hlob qeeb: Qhov no txhais tau tias lig hauv kev hais lus, ua si, thiab kawm hauv txoj kev uas tsim nyog rau lawv lub hnub nyoog.
• Kev tsis pom kev zoo: Piv txwv li, ib nrab ntawm qhov pom kev ploj thaum saib nrog ob lub qhov muag (hemianopia).

Dab tsi ua rau muaj hemimegalencephaly?

Qhov tseeb, cov kws tshawb fawb tseem tsis tau paub meej tias yog dab tsi ua rau muaj tus mob no. Ib txhia ntseeg tias nws yog los ntawm noob caj noob ces, txhais tau tias nws yog los ntawm kev hloov pauv ntawm tus menyuam DNA . Tab sis nws tsis yog los ntawm noob caj noob ces. Qhov ntawd txhais tau tias koj muaj tus mob no thiab nws tsis yog ib yam dab tsi uas koj kis mus rau koj tus menyuam.

Feem ntau, nyob ib ncig ntawm lub lim tiam thib peb ntawm cev xeeb tub, muaj kev hloov pauv tsis raws cai, lossis tsis tau npaj tseg, hauv ib qho ntawm cov noob caj noob ces tseem ceeb rau kev loj hlob ntawm lub hlwb tshwm sim. Nco ntsoov, qhov mob no tsis yog los ntawm txhua yam koj tau ua thaum cev xeeb tub. Qhov no tsis yog koj qhov txhaum lossis leej txiv qhov txhaum.

Cov yam txaus ntshai uas cuam tshuam rau tus mob no yog dab tsi?

Kab mob hemimegalencephaly tuaj yeem tshwm sim ua ke nrog lwm yam mob caj ces. Qhov no txhais tau tias cov menyuam yaus uas muaj cov mob hauv qab no muaj feem yuav mob hemimegalencephaly ntau dua:

• Kab mob Epidermal nevus syndrome
• Klippel-Trenaunay syndrome
• Kab mob McCune-Albright
• Kab mob Neurofibromatosis Hom 1 (NF1)
• 'CLOVES syndrome'
• 'Proteus syndrome'
• `Hypomelanosis ntawm Ito`

Yuav kuaj mob li cas thiaj paub tias muaj hemimegalencephaly?

Yuav kom paub tseeb tias qhov no puas yog qhov tseeb, koj tus menyuam tus kws kho mob yuav xub kuaj koj tus menyuam thiab nug koj txog keeb kwm kev noj qab haus huv ntawm koj tus menyuam. Tom qab ntawd, lawv yuav ua cov kev kuaj mob hauv qab no:

• Ib daim duab MRI ntawm lub hlwb.
• Kev kuaj EEG (Electroencephalogram). Qhov no ntsuas qhov ua haujlwm hluav taws xob ntawm lub hlwb.

Nrog rau cov thev naus laus zis niaj hnub no, qee zaum nws muaj peev xwm kuaj mob no thaum tus menyuam tseem nyob hauv plab "thaum cev xeeb tub." Qhov no ua tiav los ntawm kev ua qhov kev ntsuas MRI tshwj xeeb ntawm tus menyuam lub hlwb "fetal MRI" .

Yuav kho li cas?

Lub hom phiaj tseem ceeb ntawm kev kho mob hemimegalencephaly yog los tswj cov qaug dab peg. Cov qaug dab peg no qee zaum tuaj yeem pib thaum tseem hluas heev thiab feem ntau nyuaj rau tswj nrog tshuaj (tsis kam tshuaj).

Qhov mob no tuaj yeem ua rau muaj ntau yam kev mob sib txawv. Nws yog ib qho tseem ceeb uas yuav tsum nco ntsoov tias kev mob uas tshwm sim thaum yau, tshwj xeeb tshaj yog tias nws pib thaum yau, tuaj yeem muaj kev cuam tshuam loj heev rau kev loj hlob ntawm tus menyuam. Kev mob uas tsis tswj tau tuaj yeem ua rau tus menyuam txoj kev loj hlob thiab kev txhim kho puas tsuaj loj heev, nrog rau kev puas tsuaj rau lub hlwb uas tseem tab tom loj hlob. Yog li ntawd, nws yog ib qho tseem ceeb kom tsum tsis txhob mob sai li sai tau.

Kev kho mob qaug dab peg pib nrog cov tshuaj tiv thaiv qaug dab peg. Ib txhia menyuam yaus tuaj yeem tswj lawv cov qaug dab peg mus tas lawv lub neej nrog cov tshuaj no. Tab sis ntau tus neeg mob qaug dab peg uas tsis kam tshuaj. Tom qab ntawd phais hu ua hemispherectomy. Qhov no suav nrog kev tshem tawm qhov cuam tshuam ntawm tus menyuam lub hlwb (cerebral cortex) lossis cais nws tawm ntawm sab tod ntawm lub hlwb.

Thaum ua qhov kev phais no, qee zaum hu ua "functional hemispherectomy." Hauv qhov kev phais no, tus kws phais txiav thiab cais cov nqaij thiab cov hlab ntsha uas txuas ib sab ntawm tus menyuam lub hlwb mus rau sab tod, tab sis sab uas loj dua ntawm lub hlwb tuaj yeem tso rau hauv lub pob txha taub hau. Hauv "anatomical lossis complete hemispherectomy," ib sab ntawm lub hlwb raug cais tawm ntawm sab tod, tshem tawm sab txawv teb chaws tag nrho. Qhov kev phais no yuav tsum tau ua los ntawm tus kws phais hlwb uas muaj kev cob qhia tshwj xeeb hauv kev phais mob qaug dab peg.

Puas yog phais tshem ib nrab ntawm lub hlwb (Hemispherectomy) nyuaj?

Qhov tseeb, kev phais hlwb hemispherectomy yog ib qho kev phais mob nyuaj heev. Muaj ntau yam laj thawj uas ua rau qhov kev phais mob no nyuaj dua vim yog tus mob hemimegalencephaly.

Thawj qhov yog tias cov hlab ntsha feem ntau nyob rau hauv txoj kev txawv txawv. Yog li ntawd, lawv nyuaj rau nrhiav thiab txiav thaum lub sijhawm phais. Qhov no qee zaum tuaj yeem ua rau los ntshav ntau dhau.

Ntxiv mus, vim tias tag nrho lub hlwb ntawm ib tug me nyuam muaj cov duab tsis zoo, cov cim uas tus kws phais siv los txheeb xyuas cov feem ntawm lub hlwb feem ntau tsis pom. Tsis tas li ntawd, cov menyuam mos thiab cov menyuam yaus me tuaj yeem poob ntshav ntau heev thaum lub sijhawm phais no. Qhov no yuav tsum tau saib xyuas kom zoo thiab yuav tsum tau hloov ntshav raws li qhov xav tau.

Yog li ntawd, nws yog ib qho tseem ceeb heev uas pab pawg kws kho mob uas kho koj tus menyuam yog ib pab neeg txawj thiab muaj kev paub dhau los hauv kev phais mob no. Nws muaj kev nyab xeeb dua rau koj tus menyuam kom phais mob no hauv tsev kho mob uas niaj hnub ua hemispherectomy rau cov menyuam mos uas muaj hemimegalencephaly thiab muaj kev paub dhau los hauv kev phais mob no.

Yuav muaj kev kwv yees li cas rau ib tug me nyuam uas muaj tus mob no?

Qhov mob ntawm koj tus menyuam yuav loj hlob li cas feem ntau yog nyob ntawm seb nws tswj tau qhov mob zoo li cas thiab seb qhov kev loj hlob ntawm lub hlwb puas txawv txav yog nyob rau ib sab lossis ob sab.

Kab mob hemimegalencephaly yog ib qho mob uas cuam tshuam rau txhua tus menyuam sib txawv. Qhov no txhais tau tias cov txiaj ntsig tuaj yeem sib txawv ntawm ib tus menyuam mus rau ib tus menyuam.

• Ntau tus menyuam yaus yuav muaj qee qib kev tsis taus ntawm lub hlwb .
• Tej tus menyuam uas tswj tau qhov mob zoo kuj yuav muaj lub hlwb ntse ze li qub.
• Tab sis rau qee tus menyuam yaus lwm tus, tej yam xws li kev taug kev, kev hais lus, thiab kev loj hlob ntawm lub hlwb tuaj yeem cuam tshuam loj heev.

Yuav luag txhua tus menyuam uas muaj mob hemimegalencephaly muaj qhov tsis muaj zog ntawm ib sab ntawm lub cev (hemiparesis) . Qhov no yog ib hom mob cerebral palsy. Ib txhia menyuam yuav muaj qhov tsis muaj zog me ntsis, thaum lwm tus yuav muaj qhov tsis muaj zog heev. Ib txhia menyuam yuav muaj tus mob hu ua homonymous hemianopsia, qhov twg ib nrab ntawm lawv qhov muag pom kev ploj mus. Ntau tus menyuam tuaj yeem taug kev thiab tham lus, tab sis tsis yog txhua tus menyuam tuaj yeem ua tau. Ib txhia menyuam xav tau cov khoom noj tshwj xeeb, thaum lwm tus tuaj yeem noj tau li qub.

Ib txoj kev tshawb fawb tsis ntev los no pom tias tom qab phais:

• Qhov kev haum xeeb tau tso tseg tag nrho hauv 68% ntawm cov menyuam yaus.
• 43% ntawm cov menyuam yaus muaj kev txawj ntse nruab nrab lossis me ntsis tsis zoo.
• 26% ntawm cov menyuam yaus tau hais lus raws li lub hnub nyoog tsim nyog.
• 21% ntawm cov menyuam yaus tau nyeem tau txaus.

Puas tiv thaiv tau tus kab mob hemimegalencephaly?

Vim tias cov kws tshawb fawb tseem tsis tau paub meej tias yog dab tsi ua rau muaj tus mob no, tsis muaj txoj hauv kev los tiv thaiv nws.

Koj yuav saib xyuas ib tug me nyuam uas muaj tus mob no li cas?

Yog tias koj tus menyuam muaj tus mob Hemimegalencephaly, nws/nwsXav tau ib pab neeg kho mob loj heev. Ua ke nrog pab neeg kho mob ntawm koj tus menyuam, koj tuaj yeem tsim ib txoj kev npaj uas ua tau raws li qhov xav tau ntawm koj tus menyuam. Pab neeg kho mob ntawm koj tus menyuam 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 kev ua haujlwm, thiab cov kws kho lub cev
• Lwm cov kws kho mob.

Koj yuav tsum nug koj tus menyuam tus kws kho mob li cas?

Yog tias koj tus menyuam raug kuaj pom tias muaj hemimegalencephaly, koj tuaj yeem nug tus kws kho mob cov lus nug no:

• Kuv tus menyuam muaj hom mob hemimegalencephaly li cas?
• Puas yog kuv tus menyuam muaj lwm yam mob?
• Kev kho mob zoo tshaj plaws yog dab tsi?
• Kuv tus menyuam lub zeem muag yog li cas?
• Peb ua tau dab tsi los txo nws cov tsos mob?

Niam thiab Txiv, ua siab loj me ntsis! (Cov Lus Coj Mus Tsev)

Peb paub tias pom koj tus menyuam muaj qaug dab peg, lossis paub tias lawv muaj mob zoo li Hemimegalencephaly, tuaj yeem ua rau koj xav tsis thoob thiab ua rau koj mob siab. Tab sis nco ntsoov, koj tsis yog tib leeg xwb. Pab neeg kho mob uas kho koj tus menyuam yuav nrog koj txhua kauj ruam.

Yog tias koj tab tom muaj teeb meem nrog qhov teeb meem no, nug koj tus kws kho mob txog cov pab pawg txhawb nqa uas pab cov tsev neeg ntawm cov menyuam uas muaj tus kab mob hemimegalencephaly. Kev tham nrog cov niam txiv ntawm cov menyuam uas muaj tus mob no tuaj yeem pab koj txo koj qhov kev ntshai thiab lees txais koj tus menyuam tus mob. Lawv tuaj yeem yog lub hauv paus zoo rau koj thaum koj tus menyuam kawm nyob nrog tus mob.

Hemimegalencephaly , kev loj hlob ntawm lub hlwb tsis zoo, qaug dab peg rau menyuam yaus, kev phais hlwb, kev loj hlob qeeb, cov teeb meem caj ces, cov kab mob ntawm lub paj hlwb