Ngaba icala elinye lobuchopho bomntwana wakho likhulu kakhulu? Masifunde nge-hemimegalencephaly!

Ngaba wakha wakhathazeka ngendlela intloko yomntwana wakho emile ngayo, okanye ngendlela ahlala ehlutshwa ngayo? Ngamanye amaxesha, kunokubakho ingxaki yezonyango engaqhelekanga emva kwezi zinto. I-Hemimegalencephaly yenye yezi meko. Nangona igama lisenokuvakala linzima kancinci, masithethe ngalo ngokulula.

Yintoni iHemimegalencephaly?

Ngamafutshane, i-hemimegalencephaly iyenzeka xa icala elinye lobuchopho bomntwana wakho (i-cerebral hemisphere) likhulu ngokungaqhelekanga kunelinye. Cinga ngengqondo yethu njengethumba elikhulu elinesiqingatha ezibini, icala lasekhohlo nelasekunene. Kule meko, icala elinye kuphela elikhula likhulu kunokuba kufanele. Ngamanye amaxesha olu phuhliso lunokukhawulelwa kwinxalenye encinci yelo cala lobuchopho , okanye lonke icala linokukhula.

Xa icala elinye lobuchopho likhula ngale ndlela, ezinye iinguqu zinokwenzeka ngaphakathi kwengqondo. Umzekelo:

• Ii-neurons luhlobo lweseli ebuchotsheni bethu. Zisenokungacwangciswanga kakuhle (cytoarchitecture) okanye umaleko ophezulu wobuchopho usenokuba awuzange wenziwe kakuhle (cortical dysplasia).
• I-corpus callosum elahlekileyo okanye eyonakeleyo: Oku kufana nebhulorho edibanisa amacala omabini obuchopho . Ukuba ayikho okanye yonakele, iingxaki zinokubakho.
• Ukwanda kwemingxuma (ii-ventricles) zobuchopho ezizaliswe lulwelo kwicala elichaphazelekayo.

Ngenxa yokuba iindawo ezithile zengqondo azikhuli kakuhle ngale ndlela, ukuxhuzula kunokubakho rhoqo. Sikwabiza oku ngokuba yi-epilepsy . Amaxesha amaninzi, oku kuxhuzula kunzima ukukulawula ngamayeza aqhelekileyo okuthintela ukuxhuzula. Ukuba ukuxhuzula akunakulawulwa ngamayeza, abantwana abaninzi kufuneka benze utyando lobuchopho (utyando lwe-epilepsy).

Ngaba kukho iintlobo eziphambili ze-hemimegalencephaly?

Ewe, kukho iintlobo ezininzi eziphambili zale meko:

• I-hemimegalencephaly ehlukanisiweyo: Oku kuchaphazela kuphela umaleko ongaphandle kwengqondo yomntwana (i-cerebral cortex). Akukho kubandakanyeka kolusu okanye amanye amalungu omzimba.
• I-syndromic hemimegalencephaly: Oku akuchaphazeli ingqondo kuphela, kodwa nolusu lomntwana kunye namanye amalungu omzimba.Iimpawu zolusu zinokubonakala emva kweenyanga okanye iminyaka emva kokuzalwa. Kwakhona, elinye icala lomzimba womntwana linokuba likhulu kunelinye (hemihypertrophy).
• I-hemimegalencephaly iyonke: Kule meko, i-cerebellum yomntwana kwaye ngamanye amaxesha kwane-brainstem iyakhula. Oku kunokwenzeka nokuba kukwahlukanisiwe okanye kusenzeka nge-syndromic.

Zithini iimpawu zale meko?

Uphawu lokuqala onokuluphawula kukuba umntwana wakho "uneentlungu zosana okanye ukuxhuzula ". Ezi zihlala zizifo ezibangelwa kukuxhuzula. Oku kuthetha ukuba icala elinye lomzimba womntwana linokuxhuzula.

Ezinye iimpawu ezinokubonwa ziquka:

• Intloko ekhulisiweyo (iMacrocephaly).
• Imo yentloko engalinganiyo.
• Ubunzima kwiintshukumo ezifana nokuhamba nokubaleka.
• Ukuba ndindisholo kunye nobuthathaka kwelinye icala lomzimba.
• Ukulibaziseka kokukhula: Oku kuthetha ukuba umntwana akadlali, akadlali, kwaye akafundi ngendlela efanelekileyo ngokweminyaka yakhe.
• Ukukhubazeka kokubona: Umzekelo, isiqingatha soluhlu olubonakalayo siyalahleka xa ujonga ngamehlo omabini (i-hemianopia).

Yintoni ebangela i-hemimegalencephaly?

Enyanisweni, izazinzulu azikayazi kakuhle into ebangela le meko. Abanye bakholelwa ukuba yimfuza, oko kuthetha ukuba ibangelwa kukutshintsha kwe -DNA yomntwana. Kodwa ayilofuzo. Oko kuthetha ukuba unayo le meko kwaye ayiyonto oyidlulisela kumntwana wakho.

Kusenokwenzeka ukuba, malunga neveki yesithathu yokukhulelwa, utshintsho olungalindelekanga, okanye oluzenzekelayo, kwenye yezakhi zofuzo ezibalulekileyo ekuphuhlisweni kwengqondo luyenzeka. Khumbula, le meko ayibangelwanga yinto oyenzileyo ngexesha lokukhulelwa. Asikuko ukuba ityala lakho okanye likatata libangelwa.

Ziziphi izinto ezibangela umngcipheko ezichaphazela le meko?

I-hemimegalencephaly inokwenzeka kunye nezinye iimeko zemfuza. Oku kuthetha ukuba abantwana abanezi meko zilandelayo basengozini enkulu yokufumana i-hemimegalencephaly:

• `Isifo se-Epidermal nevus`
• `Isifo seKlippel-Trenaunay`
• `Isifo sikaMcCune-Albright`
• ``Uhlobo lwe-Neurofibromatosis 1 (NF1)''
• `Isifo se-CLOVES`
• `Isifo seProteus`
• `I-Hypomelanosis ye-Ito`

Ifunyanwa njani i-hemimegalencephaly?

Ukuze aqiniseke ukuba oku kunjalo, ugqirha womntwana wakho uza kuqala ahlole umntwana wakho aze akubuze ngembali yempilo yomntwana wakho. Emva koko, banokwenza olu vavanyo lulandelayo:

• Iskeni se-MRI yobuchopho.
• Uvavanyo lwe-EEG (i-Electroencephalogram). Olu lulinganisa umsebenzi wombane wengqondo.

Ngobuchwepheshe obuphambili bale mihla, ngamanye amaxesha kunokwenzeka ukuxilonga le meko ngelixa umntwana esesesibelekweni ``ngexesha lokukhulelwa.`` Oku kwenziwa ngokwenza i-MRI scan ekhethekileyo yengqondo yomntwana ``i-fetal MRI``.

Iphathwa njani?

Eyona njongo iphambili yokunyanga i-hemimegalencephaly kukulawula ukuxhuzula. Ezi zifo ngamanye amaxesha ziqala zisencinci kakhulu kwaye zihlala zinzima ukuzilawula ngamayeza (anganyangekiyo ngamayeza).

Le meko inokubangela iintlobo ngeentlobo zokugquma. Kubalulekile ukuqaphela ukuba ukugquma okwenzeka ebuntwaneni, ingakumbi ukuba kuqala ebuntwaneni, kunokuba nefuthe elikhulu ekukhuleni komntwana. Ukugquma okungalawulwayo kunokonakalisa kakhulu ukukhula nophuhliso lomntwana, kunye nokonakalisa ingqondo ekhulayo. Ke ngoko, kubalulekile ukuyeka ukugquma ngokukhawuleza.

Unyango lwesifo sokuxhuzula luqala ngamayeza okulwa nokuxhuzula. Abanye abantwana banokulawula isifo sokuxhuzula ubomi babo bonke ngala mayeza. Kodwa uninzi lwabo lufumana isifo sokuxhuzula esinganyangekiyo ngamayeza. Emva koko kwenziwa utyando olubizwa ngokuba yi-hemispherectomy. Oku kubandakanya ukususa inxalenye echaphazelekayo yengqondo yomntwana (i-cerebral cortex) okanye ukuyahlula kwelinye icala lobuchopho.

Xa olu tyando lwenziwa, ngamanye amaxesha lubizwa ngokuba yi-"functional hemispherectomy." Kolu tyando, ugqirha usika aze ahlukanise izicubu kunye nemithambo-luvo edibanisa elinye icala lobuchopho bomntwana kwelinye, kodwa icala lobuchopho elikhulu ngokungaqhelekanga lingashiywa ngaphakathi kwekhakayi. Kwi-"anatomical okanye i-complete hemispherectomy," elinye icala lobuchopho lahlulwe kwelinye icala, lisusa icala elingaqhelekanga ngokupheleleyo. Olu tyando kufuneka lwenziwe ngugqirha wemithambo-luvo oqeqeshwe ngokukodwa kutyando lwesifo sokuwa.

Ingaba utyando lokususa isiqingatha sobuchopho (hemispherectomy) lunzima?

Enyanisweni, i-hemispherectomy lutyando lobuchopho olunzima kakhulu. Kukho izizathu ezininzi zokuba ukwenza olu tyando kube nzima nangakumbi ngenxa yesifo se-hemimegalencephaly.

Into yokuqala kukuba imithambo yegazi idla ngokufumaneka ngendlela engaqhelekanga. Ngenxa yoko, kunzima ukuyifumana nokusika ngexesha lotyando. Oku ngamanye amaxesha kunokubangela ukopha kakhulu.

Ukongeza, ngenxa yokuba yonke ingqondo yomntwana inesimo esingaqhelekanga, iimpawu ezisetyenziswa ngugqirha wotyando ukuchonga iindawo ezithile zobuchopho azisoloko zibonakala. Kwakhona, iintsana nabantwana abancinci banokulahlekelwa ligazi elininzi ngexesha lotyando. Oku kufuneka kujongwe ngononophelo olukhulu kwaye igazi kufuneka litshintshwe njengoko kufuneka.

Kungoko ke, kubaluleke kakhulu ukuba iqela lezonyango elinyanga umntwana wakho libe liqela elinobuchule nelinamava kolu tyando. Kukhuselekile ukuba umntwana wakho enze olu tyando esibhedlele esenza i-hemispherectomy rhoqo kwiintsana ezine-hemimegalencephaly kwaye enamava amaninzi kule nkqubo.

Ithini ingqikelelo yomntwana onesi sifo?

Indlela eza kukhula ngayo imeko yomntwana wakho ixhomekeke kakhulu ekubeni ingalawulwa kakuhle kangakanani na imeko yakhe kunye nokuba uphuhliso olungaqhelekanga lwengqondo lukwelinye icala okanye omabini amacala.

I-Hemimegalencephaly yimeko ye-spectrum echaphazela umntwana ngamnye ngendlela eyahlukileyo. Oku kuthetha ukuba iziphumo zingahluka kakhulu kumntwana ngamnye.

• Abantwana abaninzi banokuba nokukhubazeka kwengqondo kwinqanaba elithile.
• Abanye abantwana abanesifo sokuwa esilawulekayo banokuba nengqondo ephantse ibe yeqhelekileyo.
• Kodwa kwabanye abantwana, izinto ezifana nokuhamba, ukuthetha, kunye nophuhliso lwengqondo zinokuchaphazeleka kakhulu.

Phantse bonke abantwana abane-hemimegalencephaly baba nobuthathaka kwelinye icala lomzimba (hemiparesis) . Olu luhlobo lwe-cerebral palsy. Abanye abantwana banokuba nobuthathaka obuncinci, ngelixa abanye banokuba nobuthathaka obukhulu. Abanye abantwana banokuba nesifo esibizwa ngokuba yi-homonymous hemianopsia, apho isiqingatha sentsimi yabo yokubona silahleka. Abantwana abaninzi banokuhamba nokuthetha, kodwa ayingabo bonke abantwana abanako. Abanye abantwana bafuna izixhobo ezikhethekileyo zokutya, ngelixa abanye banokutya ngokuqhelekileyo.

Uphando lwakutshanje lufumanise ukuba emva kotyando:

• Ukulingana kuye kwaphela ngokupheleleyo kwi-68% yabantwana.
• Ama-43% abantwana babenengqondo ephangaleleyo okanye engasebenzi kakuhle.
• Ama-26% abantwana bakwazile ukuthetha ngendlela efanelekileyo ngokweminyaka yabo.
• Ama-21% abantwana bakwazile ukufunda kwinqanaba elaneleyo.

Ngaba i-hemimegalencephaly ingathintelwa?

Ekubeni izazinzulu zingakazi ukuba yintoni ebangela le meko, akukho ndlela yokuyithintela.

Umnyamekela njani umntwana onesi sifo?

Ukuba umntwana wakho une-Hemimegalencephaly, yena/yenaIqela elikhulu lezonyango liyafuneka. Kunye neqela lezonyango lomntwana wakho, ningenza isicwangciso esihlangabezana neemfuno zomntwana wakho. Iqela lezonyango lomntwana wakho lingabandakanya:

• Iingcali zezingane
• Iingcali ze-Neurology
• Iingcali zotyando lwengqondo
• Iingcali zophuhliso
• Iingcali zonyango lwentetho, iingcali zonyango lomsebenzi, kunye neengcali zonyango lomzimba
• Abanye ababoneleli ngeenkonzo zempilo.

Yeyiphi imibuzo omele uyibuze ugqirha womntwana wakho?

Ukuba umntwana wakho ufunyaniswe ene-hemimegalencephaly, ungambuza ugqirha le mibuzo:

• Luhlobo luni lwe-hemimegalencephaly umntwana wam analo?
• Ngaba umntwana wam unezinye iingxaki zempilo?
• Yeyiphi eyona ndlela ilungileyo yonyango?
• Injani imbono yomntwana wam?
• Singenza ntoni ukunciphisa iimpawu zakhe?

Mama noTata, yibani nesibindi kancinci! (Umyalezo Wokubuyela Ekhaya)

Siyazi ukuba ukubona umntwana wakho exhuzula, okanye efumanisa ukuba unesifo esifana neHemimegalencephaly, kunokuba yinto eyoyikisayo neyenza intliziyo ibe buhlungu. Kodwa khumbula, awuwedwa. Iqela lezonyango elinyanga umntwana wakho likunye nawe kuyo yonke inyathelo.

Ukuba unengxaki yokujongana nale meko, buza ugqirha wakho malunga namaqela enkxaso anceda iintsapho zabantwana abane-hemimegalencephaly. Ukuthetha nabazali babantwana abanale meko kunokukunceda ukunciphisa uloyiko lwakho kwaye uqhelane nemeko yomntwana wakho. Banokuba ngumthombo omkhulu wamandla kuwe njengoko umntwana wakho efunda ukuphila nale meko.

I- Hemimegalencephaly, uphuhliso olungaqhelekanga lobuchopho, isifo sokuwa kosana, utyando lobuchopho, ukulibaziseka kophuhliso, iimeko zofuzo, izifo zemithambo-luvo