I naute thluak hi a "smooth" em? Lissencephaly chungchang hi han sawi ila!

Naute "thluak smooth" neia piang tih i hre tawh em? Heng thute i hriat khan i hlauthawng deuh a ni mai thei. Vawiin hian he natna `Lissencephaly` an tih hi eng nge a nih tak tak, engvangin nge a lo awm tih leh naute a nghawng dan te hi han sawi mai ila. Hei hi thupui buaithlak deuh ni mahse, i hriatthiam theih tur angin ka sawifiah ang.

`Lissencephaly` tih hi eng nge ni?

A awlsam zawngin, `Lissencephaly` tih awmzia chu ``thluak hrual (smooth brain.``) tihna a ni. Nausen pum chhunga a la awm laiin a lo thang lian thin.

Ngaihtuah teh, kan thluak hi walnut ang mai a ni lawm ni? Fold (gyri) leh grooves (sulci) tam tak a nei a. Heng fold leh groove te hi a pawimawh hle. Thluak hmun hrang hrang an then hrang a, thluak chunglam zau zawng an tipung a, chu chuan kan finna leh ngaihtuahna tihhmasawn nan min pui thin.

Tunah chuan nausen `Lissencephaly` vei ah chuan heng `gyri` leh `sulci` te hi thluak ah an thang tha lo hle. Tichuan thluak chu a hlim hmel hle mai. Board hrual ang maiin. Chuvangin "smooth brain" an ti a ni.

Lissencephaly hi chi hrang hrang a awm thei. Main type 20 chuang a awm. Mahse a tam zawkah chuan hengte hi chi hnih ah then a ni:

• Classic lissencephaly (Type 1) a ni a, a rilru a hah lutuk a, a rilru a buai em em bawk a.
• Lung lian (cobblestone lissencephaly) (Type 2 ) a awm a.

Pawl pahnihte symptoms hi eng emaw chen inang mah se, a thlentu genetic mutations chu a inang lo thei.

A châng chuan `Lissencephaly` hi amah chauhin a awm a, chu chu chhinchhiahna dang a awm lo tihna a ni. Hei hi `isolated lissencephaly` kan ti a. Hun dangah chuan natna dang (`syndromes`) `Miller-Dieker syndrome` emaw `Walker-Warburg syndrome` emaw nen a awm dun thei bawk.

Naupang lissencephaly vei te hian an thanlenna lama harsatna nasa tak leh rilru lama harsatna an nei fo thin . Mahse, hei hi naupang hrang hrangah a danglam a, chu chu an natna nasat dan azirin a ni.

Lissencephaly hi tuin nge vei? Engtiang chiahin nge a hluar?

Lissencephaly hian nausen lo piang chhuak te a nghawng a . A tlangpuiin naupai kar 12 leh kar 24 inkarah a lo thang lian thin. A chhan ber chu genetic mutations vang a ni. Mahse, non-genetic cause vang pawh a ni thei.

Hei hi a awm lo hle a ni . Zirchiangtute sawi dan chuan nausen 100,000 zinga pakhat chauh hi Lissencephaly vei an piang a ni. Chuvangin he thil hian hlauthawng suh, mahse hriat reng a phu hle.

Naute lissencephaly vei hian eng symptoms nge a neih?

Lissencephaly symptoms hi a inang lo hle. A natna nasat dan leh damdawi lam natna dang nena inzawm leh inzawm lohah a innghat vek a ni. Naupang thenkhat chu zirlai lama harsatna tenau te chauh neiin a pangngaiin an lo thang lian thei bawk. Midang erawh chuan symptom na tak tak an nei thei thung. Heng symptoms nasat dan pawh hi a inang lo hle.

Chuvangin, i fain lissencephaly a neih chi hrang hrang a zirin eng nge i beisei tur tih doctor nen inbiakna neih a pawimawh hle.

`Lissencephaly` natna lan chhuah dan thenkhat chu:

• Seizures: Lissencephaly vei naupang sawm zinga 9 chuan an dam kum khatnaah epilepsy an nei thin. Hei hi a lan chhuah dan tlangpui a ni.
• Chaw ei harsa (dysphagia) leh ei: Naute hian chaw ei leh ei harsa a ti thei.
• Hmasawnna tlai: Naute chu an kum a zirin beisei angin a lo thang lian lo thei. Nuihzatthlak, lu chawi sang, inher, leh thut ang chi thilte chu a tlai thei hle.
• Rilru lama harsatna leh zirlai inthlauhna: Thiamna lama hmasawnna a nghawng thei.
• Muscle spasms: Muscle spasms leh twitching a awm thei.
• Psychomotor functions chungchanga buaina: Kut leh mit inzawmna, kal leh thil man kawngah harsatna a awm thei.
• Hlawhtling lo: Naute taksa thanlenna chu a slow hle thei. An thau lo thei a, an thau reng thei bawk.
• Lu pangngai aia te zawk (microcephaly): Kum a zirin lu chu a pangngai aia te zawk a ni thei.
• Congenital limb differences: Kut, kut zungtang leh ke ruh hrang hranga danglamna engemaw zat neia piang i ni thei.

Engvangin nge `Lissencephaly` hi a lo awm? A chhante chu engte nge ni?

Lissencephaly hi genetic leh non-genetic factors atanga lo awm thei a ni. A tam ber chu naupai lai, naupai kar 12 leh kar 24 inkar vel a ni.

A awlsam zawngin sawi ila, heng chhante hi naute thluak pawn lam (neuronal cells) neuronal migration tihchhiat vang a ni. Ngaihtuah teh, kan thluak peng pakhat, conscious movement leh thought-a mawhphurtu chu cerebral cortex an ti a. A tlangpuiin deep folds (gyri) leh grooves (sulci) a nei a, a dik em?

Naute thluak chu pum chhunga a lo thanglian zel chuan cell thar a lo piang a, chu chu a hnuah specialized nerve cell-ah lo changin naute thluak chung lamah an kal leh thin. Hei hi `neuronal migration` an ti a. Chutiang chuan cell layer engemaw zat a lo piang ta a ni. Heng layer te hian `gyri` (folds) an siam a.

Mahse `Lissencephaly` chungchangah chuan heng cell te hi an kalna tur hmunah an kal lo. Tichuan naute `cerebral cortex` hian cell layer a siam tling lo. Chuvang chuan chu `gyri` (fold) te chu a bo emaw, a lo thang lo emaw a ni.

Genetic ni lo thilte

A tlem hle nachungin, non-genetic causes pawhin lissencephaly a thlen thei bawk.

• Nu naupai emaw, nausen piang lai emawa Viral infection: Viral infection thenkhat, a bik takin naupai thla thum hmasa ber (kar hmasa atanga kar sawm leh pahnihna) ah hian nausen chu a nghawng thei a ni.
• Naute thluaka oxygenated blood supply tlahniam (ischemia): Hetiang dinhmun hi nausen pum chhunga a lo thanglian zel a, thluak hian oxygen a dawn zat a tlahniam chuan a awm thei a ni.

Genetic avanga lo awm

Lissencephaly hi genetic mutations avanga lo awm a ni tlangpui . Genetic mutation chu kan DNA kalphung inthlak danglamna a ni. I hria em, kan DNA sequence hi kan cell-te hnathawh tur atana an mamawh information petu a ni. Chuvangin he DNA sequence thenkhat hi a kim lo emaw, a chhiat emaw chuan genetic condition symptoms a awm thei a ni.

Naute chuan he genetic change hi nu leh pa pakhat emaw, nu leh pa pahnih emaw aṭangin a rochun thei a ni. Genetic change chu engtin nge a rochun tih ah a innghat. Mahse a chang chuan heng genetic changes te hi `randomly`-in a thleng thei a, chhungkuaah hian he natna hi an lo nei tawh lo.

Scientist-te chuan lissencephaly thlen thei gene eng emaw zat an hmuchhuak a. Chung zinga ṭhenkhat chu:

• `LIS1` (`PAFAH1B1`) gene: He gene inthlak danglamna (`mutation`) emaw, a then hloh (`deletion`) emaw hi `isolated lissencephaly` bakah `Miller-Dieker syndrome` nen a inzawm a ni.
• `DCX` gene: Hei hi `X` chromosome-a gene awm a ni. I hriat angin mipa hian `X` chromosome pakhat leh `Y` chromosome pakhat an nei a. Chuvangin nausen mipa te hian he genetic mutation avang hian `Lissencephaly` an vei tam zawk a ni. Naute hmeichhia hian `X` chromosome pahnih an neih tlangpui avangin he natna hi an nei a nih pawhin a natna lan chhuah dan hi a na lo fo thin.
• `ARX` gene: He gene-a mutation nei naute hian symptom dang nen `Lissencephaly` an nei bawk. Entirnan, thluak hmun thenkhat awm lohna (`agenesis of the corpus callosum`), mipat hmeichhiatna hmun dik lo, leh epilepsy na tak. `ARX` gene pawh hi `X` chromosome ah a awm bawk. Chuvangin nausen mipa te hi an tuar tam ber a ni.
• `RELN` gene: He gene-a mutation awm hian `Norman-Roberts syndrome` tih natna a thlen a, chutah chuan `Lissencephaly` pawh a tel.

Engtin nge Lissencephaly hi hmuhchhuah a nih?

A châng chuan, doctor-te chuan naupai laiin lissencephaly an ringhlel thei a, chu chu chhûngkaw zînga mi pakhatin he natna hi a lo neih tawh chuan, a nih loh leh naupai laiin ultrasound scan-in ngaihtuahna a siam a nih chuan. Chutiang a nih chuan naupai laiin test bik, amniocentesis leh naute thluak nausen magnetic resonance imaging (MRI) scan hmanga hriat theih a ni.

Chutiang a nih loh chuan doctor-te chuan naute pian hnuah `Lissencephaly` an hmuchhuak tlangpui a, chu chu naute taksa enfiahna leh lu `imaging test` hmangin an hmuchhuak thin.

Heng imaging test hmang hian doctor-te chuan naute thluak chunglama `sulci` (grooves) leh `gyri` (folds) te chu a awm lo emaw, a tlahniam em tih te, leh `cerebral cortex` (cerebral cortex) a thick em tih te an en thin.

`Lissencephaly` tih hriat nan eng test nge hman thin?

I doctor chuan lissencephaly a rinhlelh chuan, i chhungkaw chanchin emaw, naupai lai ultrasound scan result emaw a\angin, naupai laiin test bik engemaw zat neih a rawt thei ang. Chung zingah chuan:

• Cell-free fetal DNA testing: Hei hian nu thisen sample atanga nu leh nausen DNA thliar hran a ni. He DNA hi laboratory-ah test a ni a, chromosome lama harsatna awm theihna chance a sang zawk em tih enfiah a ni.
• Amniocentesis: Hei hi naupai thla thum hnihna emaw, thla thumna emaw chhunga tih thin a ni. He test-ah hian doctor chuan naute chhehvel amniotic sac atanga amniotic fluid tlem te chu needle te tak te hmangin a paih chhuak thin. He fluid sample hi laboratory-ah an test leh thin. Amniocentesis hian genetic condition leh mutations te chu a hmuchhuak thei a, chu chuan lissencephaly ang chi condition a thlen thei a ni.
• Chorionic villus sampling (CVS): He test-ah hian doctor chuan i nausen atanga tissue chorionic villi an tih sample a la a. He sample hi cervix (transcervical) kaltlangin emaw, abdominal wall (transabdominal) kaltlangin emaw lak theih a ni. Chorionic villi hi placenta-a kut zungtang ang maia projection te tak te an ni. Naute ngeiin a genetic material a keng tel a ni. He CVS test hian naute hian chromosomal condition emaw, genetic condition dang emaw a neih leh neih loh a hriat theih a ni.

Doctor-te chuan naute pian hnua lissencephaly natna hriat theihna atan hetiang imaging test hi an hmang a:

• Head ultrasound: Ultrasound hi non-invasive imaging test a ni a, high-frequency sound wave hmangin internal organ, thluak ang chi thlalak emaw video emaw real-time-a siam a ni.
• Lu computed tomography (CT scan) hmanga tihchhuah a ni:CT scan chu computer leh X-ray hmanga taksa peng enfiah mek, hetiang hunah hian i fa lu leh thluak, three-dimensional (3D) image tam tak siamna test a ni.
• Magnetic resonance imaging (MRI) thluak scan: MRI scan hi natna nei lo test a ni a, i fa thluak chhunga thil awm dan leh tissue te chu chiang takin a hmu thei a ni. MRI hian magnet lian tak, radio wave leh computer hmangin heng thlalak chipchiar tak takte hi a siam a ni. X-ray a hmang lo.

I doctor chuan i naute tan EEG (Electroencephalogram) test pawh a ti thei bawk. EEG hian i naute thluaka electrical signal awmte chu a teh a, a record bawk. EEG neih chhung hian technician pakhat chuan i naute lu vunah hian thir plate te (electrode) a dah a. Heng electrode te hi machine nena inzawm a ni a, chu chuan doctor hnenah i naute thluak hnathawh dan a hriattir a ni.

He natna hi finfiah nan hian doctor-te chuan DNA zirchianna, chromosomal analysis leh specific gene mutational analysis te hmangin lissencephaly thlentu genetic change chu an hmuchhuak a ni.

Lissencephaly hi engtin nge enkawl a nih?

Dik tak chuan tun dinhmunah hian lissencephaly hi damdawi leh enkawlna a la awm lo . Chu ai chuan doctor-te chuan lissencephaly vei naupang tinte symptom bikte chu an enkawl zawk a ni.

Heng enkawlnate hian specialist hrang hrang team-te thawhhona tha tak a mamawh thei a, chung zingah chuan:

• Naupang enkawltu doctor te
• Neurologist te an ni
• Gastroenterologist (digestive system lama mithiam) te chuan .
• Ei leh in lama mithiamte
• Thluak lam enkawltu te
• Occupational leh physical therapist te an ni

Chutiang mite chu telh theih an ni.

Enkawlna hman tlanglawn tak tak:

• Naupang ei leh in lama harsatna nei te tan ei leh in lama harsatna nei te tan ei tur tha an hmuh awlsam zawk nan hmanraw: entirnan, tube hmanga pum chhunga luh (`gastrostomy tube' - G-tube') leh/ emaw, thusawi leh ei leh in therapy (`speech and swallowing therapy') te.
• Anti-seizure damdawi: Seizure control nana damdawi pek thin.
• Motor hmasawnna leh taksa chakna tichaktu tur occupational leh physical therapy: Taksa chakna leh chetna tichaktu exercise ang chi thil.
• Hydrocephalus control nan ventriculoperitoneal (VP) shunt dah: Thluaka tui tam zawk awm zat tihtlem nan operation tenau tak a ni.

I fain lissencephaly a vei a nih chuan i doctor chuan genetic counselling a rawt ngei ang.A sawina a ni.

Naupang lissencephaly vei tan chuan eng prognosis nge a awm?

Naupang lissencephaly vei tan chuan a natna nasat dan leh damdawi lam natna dang nena inzawm leh inzawm loh a zirin a thlir dan a inang lo hle a ni Lissencephaly vei naupang tam tak chu an lo pian tirh lamah an awm reng thei. Chumi awmzia chu mahni thuin thil tam tak an ti thei lo mai thei tihna a ni.

Mahse, naupang thenkhat chu zirlai danglamna tenau tak tak neiin a pangngaiin an lo thanglian thei a, chuvangin beiseina bansan suh.

Naupang thenkhat tan chuan a hmaa enkawlna kalpui zel hi a \angkai hle thei a ni. Heng therapies te hi:

• Taksa lam enkawlna
• Occupational therapy hmanga enkawlna
• Thusawi hmanga enkawlna
• Vision therapy hmanga enkawlna

Hetiang thil hi a tel ve mai thei.

Lissencephaly vei naupang tam tak chuan epilepsy venna atan leh harsatna dang enkawl nan nitin damdawi an ei a ngai a ni.

Naupang lissencephaly vei dam rei zawng chu engzat nge ni ang?

Naupang lissencephaly vei dam rei zawng hi a rei lo hle. Naupang tam zawk hi kum 10 an tlin hmain an thi a, lissencephaly vei zingah thihna thlentu ber chu aspiration leh thawkna lam natna a ni .

Ka fa hian `Lissencephaly` a vei a nih chuan eng nge ka beisei ang? / Engtin nge ka naute ka enkawl ang?

Hriat tur pawimawh ber chu lissencephaly vei naupang pahnih hi a inang lo tih hi a ni. I fain a nghawng dan tur chu tumahin an sawi lawk thei lo. Nakin hun atana inbuatsaihna atana i tih theih ṭha ber chu lissencephaly zirchianna leh enkawlna lama tui doctor-te nena inbiakna neih hi a ni.

Lissencephaly vei i fa enkawlnaah pui turin doctor thupek chu dik takin zawm rawh:

• Damdawi zawng zawng chu a pek angin pek vek tur a ni.
• Developmental assessment leh therapies te dik taka tih.
• Follow-up medical visit zawng zawngah tel vek tur a ni.

Lissencephaly hian hriatna, neurologic, leh/ emaw psychomotor lama harsatna a thlen thei a ni. Lissencephaly vei naupang tam tak chuan an thanlenna a tikhawtlai a, an dam chhungin nitin hnathawhnaah tanpuina an mamawh thei bawk.

I fa medical team chuan i zawhnate chu an chhang thei a, tanpuina an pe thei bawk che. I awmna hmuna emaw, online emawa awm support group chungchang pawh an hrilh thei bawk che.

Lissencephaly hi ven theih a ni em?

Vanduaithlak takin lissencephaly vei tam zawk hi chu ven theih a ni lo. Fa neih i tum a nih chuan, .I doctor nen genetic testing chungchang sawipui rawh. Hei hian i fain lissencephaly ang chi genetic condition emaw, inherited genetic mutation avanga lo awm thei condition emaw a neih theihna tur a hriatthiam theih nan a pui ang che.

Engtikah nge `Lissencephaly` chungchangah doctor ka hmuh ang?

I fa chu lissencephaly a vei tih hmuhchhuah a nih chuan an medical team te nen an inhmu fo tur a ni a, an enkawlna a tha em tih leh an hmasawnna a kal zel dan tur an enfiah thin tur a ni.

I fa Lissencephaly diagnosis hriatthiam chu thil harsa tak a ni thei. I medical team chuan i fate symptoms bikte nena inmil tur solid treatment plan an pe ang che. A pawimawh ber chu i fain a dam chhung zawnga a mamawh hmangaihna leh puihna a dawng ngei ngei tur a ni a, natna lanchhuahna thar lo awm thei apiang hriat reng tur a ni.

He thawnthu atang hian eng thuchah nge in lama kan hruai duh?

Lissencephaly hi naute thluak lo thanglian chhoh laia lo awm thin, natna awm lo leh buaithlak tak a ni. Hetiang dinhmunah hian thluaka fold leh groove pangngai (gyri leh sulci) te chu a insiam tha lo va, chu chuan "smooth" takin a lang thin.

• Hei hi genetic factors avanga lo awm thei a ni a, chubakah, a tlem berah chuan non-genetic factors .
• Naupang tinah natna lan chhuah dan a inang lo thei hle . Epilepsy, hmasawnna tlai, chaw ei harsatna te hi a awm fo thin.
• Hei hi damdawi kimchang awm lo mah se, natna lan chhuah dan control leh naupang nunphung tihchangtlunna tur enkawlna leh enkawlna hrang hrang a awm a ni .
• A pawimawh ber chu a hmasa berah hriatchhuah a, doctor-te thurawn angin thil tih a, naupang chu a mamawh hmangaihna leh thlawpna pek hi a ni .
• Hemi chungchangah hian zawhna dang i neih chuan doctor nen inbiakna neih hlau suh. Hetiang naupang nu leh pa dangte nena support group-a tel leh thil tawn insem hi a \angkai hle thei bawk.

Nangmah chauh i ni lo tih hre reng ang che. He zinkawngah hian doctor, therapist leh midang tam tak tanpui thei tur che an awm a.

` Lissencephaly, thluak nem, thluak dik lo, nausen thanlenna, genetic mutations, hmasawnna tlai, epilepsy