I fate lu chu naute dang aiin a lian zawkin a lang em? (Megalencephaly) chungchang hi han sawi ila!

I fate lu chu a kum rualpui naute dangte aiin a lian deuh tih i hre tawh mai thei, a dik em? I naute hian kawr leh lu khuhna a hak te hi a te lutuk a, a kum nena inmil tur size hmuh a harsa mai thei. Hei hi thil thleng mai mai a ni em, a nih loh leh tlem kan ngaihtuah tur thil a ni em? Vawiin hian ``Megalencephaly'' tih hming pu, ``Macencephaly'' tia hriat bawk, ​​hetiang hun lai hian i tan a pawimawh mai thei tih kan sawi dawn a ni.

Chuti a nih chuan he ``Megalencephaly'' hi eng nge ni?

A awlsam zawngin sawi ila, ``Megalencephaly`` hi i naute thluak chu a pangngai lo taka lian tihna a ni . Hei hi pian tirh lamah a awm tlangpui. Heta thil thleng hi thluak ngei pawh hi a rit lutuk a ni. Chu chu, thluak hi naupang kum leh taksa lian leh te a zirin beisei aia rit a ni tihna a ni.

Chumi chhinchhiahna hmasa ber pakhat chu lu lian danglam tak a ni thei. I fa hian a te lutuk avangin an kum nena inmil lukhum emaw, lu khuhna emaw a ha thei lo mai thei.

Thluak lian tak neih hian a chang chuan naupang hmasawnna a nghawng thei a ni. Chumi awmzia chu hmasawnna lama tihkhawtlai engemaw zat an tawk thei tihna a ni. Entîr nân, an thusawi hmasa ber sawi tûr te, hrual tûr te, a nih loh leh kea kal tûr te chu beisei aia hniam zâwk an ni thei.

A tam zawkah chuan he natna ``Megalencephaly`` an tih hi damdawi lam natna dang nen a awm dun thin. Hei hi a chhan ber chu genetic variation a ni.

`(Megalencephaly)` chi hrang hrangte chu engte nge ni?

Hetiang dinhmun hi chi thum a awm a, chungte chu:

1. Primary Megalencephaly: Hei hi Benign Familial Megalencephaly emaw Idiopathic Megalencephaly emaw tia hriat a ni bawk. Hetiang a nih chuan naupang hian thluak lian tak a nei a, mahse symptom dang emaw, neurological problem emaw a awm lo. A tam zawkah chuan nu leh pa pakhat emaw, an pahnih emaw pawhin lu lian tak an nei thei bawk. I fa lu chu thla 18 vel a tlin thlengin a pung zauh zauh thei a, chu mi hnuah chuan a nghet thei bawk.

2. Metabolic Megalencephaly: Hei hi inborn errors of metabolism avanga lo awm a ni a, hei hi kan taksain ei tur a process dan tichhe thei genetic condition pawl a ni.

3. Anatomic Megalencephaly: Hetiang chi hi gene mutation vang a ni a, chu chuan naupang nervous system hmasawnna a tichhe thei a ni. Hei hi neurodevelopmental disorder anga ngaih a ni. Megalencephaly an tih hi he chi natna hnuaia awm chhinchhiahna anga ngaih a ni tlangpui.

I fa enkawltu doctor chuan thluak (hemisphere) eng lam nge beisei aia lian zawk tih a zirin megalencephaly chi chu a ruat mai thei:

• Unilateral Megalencephaly (Hemimegalencephaly / A rilru a buai em em a, a rilru a hah em em bawk a).Hemiah hian thil thleng chu thluak sir khat chauh chu a sir dang aiin a lian zawk a ni.
• Bilateral Megalencephaly: Hei hian thluak sir lehlamah a nghawng a. Bilateral tih awmzia chu "lam lehlamah" tihna a ni.

Hetiang natna lan chhuah dan hi engte nge ni?

Megalencephaly natna lan chhuah dan hi a inang lo thei. Naupang thenkhat chuan natna lanchhuahna an nei lo va, lu lian zawk chauh an nei thei bawk. Mahse, naupang thenkhat chuan symptoms an nei thei a, chungte chu:

• Hmasawnna lama tlai: Kan sawi tawh ang khan thusawi leh kea kal ang chi thila tihkhawtlai.
• Epilepsy (`Seizures` / `Epilepsy`): Hei hian seizure ang chi dinhmun a kawk a ni.
• Neurological problems: Thluak leh ruhro hnathawh dan dik lo.

A châng chuan megalencephaly hi a mah chauhin a lo awm thei a, a lan chhuahna a awm lo. A châng chuan thluak lama harsatna dang leh nau piangsualna te nen a awm thei bawk. Heng hunah hian megalencephaly hi chu natna dang emaw, dinhmun dang emaw avanga lo awm a ni.

Symptom dang hmuh theihte chu:

• Lu lian emaw, asymmetrical emaw.
• Thinlung lama harsatna nei.
• Movement leh balance lama harsatna.
• Muscle stiffness emaw chak lohna emaw.
• Mit hmuhna lama inthlak danglamna.

Chuti a nih chuan, eng thilin nge hetiang hi a thlen?

Megalencephaly hi i naute thluak cell lo thanglian dan dik lo vang a ni. A chhan ber chu genetic variation vang nia ngaih a ni .

Kan taksaa neuron thar, a nih loh leh nerve cell thar siam dan hi `(Neuron proliferation)` an ti a. A tlangpuiin kan taksa hian he thil hi a tidanglam a, a zat dik tak, a hun dik takah cell a siam chhuak thin. Mahse naupang `(Megalencephaly),` veiah chuan heng cell te hi a tam lutuk a, a nih loh leh hmun dik takah an kal lo. Hei hi naupang chu a pum chhunga a lo thanglian lai emaw, damdawi lam dinhmun dang pakhat angin emaw a thleng thei a ni.

Hetiang dinhmun nen hian eng natna dang nge lo awm thei?

Megalencephaly hi natna leh syndrome dang tam tak nen a awm thei a, a chi leh a genetic origin a zirin a awm thei bawk.

Anatomic Megalencephaly nena inzawm natna hrang hrang:

Hetiang chi hi a hnuaia thil awmte chhinchhiahna anga ngaih a ni tlangpui:

• `(Achondroplasia)` tih a ni
• `(Bannayan-Riley-Ruvalcaba natna)`
• `(Greig cephalo-polysyndactyly natna)` tih a ni
• `(Opitz–Kaveggia natna)`
• `(Pretzel natna)`
• `(Simpson-Golabi-Behmel natna)`
• `(Sotos natna)`
• `(Weaver syndrome)` tih a ni

Metabolic Megalencephaly nena inzawm natna hrang hrang:

I fa hian megalencephaly a nei thei a, chubakah inborn errors of metabolism a nei thei bawk. Hengte hi taksain ei tur a tihchhiat dan leh chakna a hman danah harsatna a ni. Chung zingah chuan hetiang dinhmun hi a tel thei a ni:

• Organic acids (`Organic acidurias`) awm dan dik lo.
• Metabolic encephalopathies, Canavan natna leh Alexander natna te.
• Lysosomal storage natna, Tay-Sachs natna leh Sandhoff natna te.

Hemi atan hian tute nge hlauhawm ber?

``Megalencephaly'' an tih hian naupang eng pawh a nghawng thei. Mahse mipa naupangah a tam zawk . Thil engemaw takah chuan i chhungte atanga genetically inherited a ni thei a, a nih loh leh chhan hriat lohvin ``sporadically'' a lo awm thei bawk.

Engtin nge he natna hi hriat chhuah a nih? (`Diagnosis`) tih a ni.

I fa doctor chuan i fa a enfiah hnuah leh test tlemte a tih hnuah megalencephaly a ringhlel thei a ni. I fa i endik hunah doctor chuan i fa lu vel chu tape measure hmangin a teh ang. Tichuan, chu tehna chu naupang kum, mipa leh hmeichhia, leh a san zawng tehna pangngai nên an khaikhin ang.

Hei bakah hian doctor chuan imaging test, MRI ang chi, naupang thluak en a, thil dik lo awm apiang a hmuh theih nan a ti thei bawk.

Hetiang hian han ngaihtuah teh: MRI hi thluak chhung lam thlalak lak ang a ni. Doctor chuan thluaka a pianzia, a lian leh te, leh a danglamna eng pawh chiang takin a hmu thei a ni.

I doctor chuan megalencephaly nen hian underlying condition dang a rinhlelh chuan, a natna hriat chian nan test dang an tih belh a ngai mai thei. Heng test dangte hi a hnuaia mi ang hian a ni thei:

• Thisen test a ni.
• Zun test a ni.
• Genetic test neih a ni.

Engtikah nge he natna hi hriat chhuah a nih tlangpui?

A châng chuan, nu leh pate leh doctor-te chuan naute a pian hnu lawkah emaw, thla engemaw zât chhûngin emaw a lu a lian tih an hmu ṭhîn. He natna (megalencephaly) hi naute a lo seilian chhoh zel chuan a lo awm thei bawk a, a tlangpuiin nausen leh naupan lai a ni.

A châng chuan naupai laiin ultrasound scan an tih lai pawhin unilateral megalencephaly (thluak sir khat chauh a lian) tih hriat theih a ni.

Hei hi eng enkawlna nge ni?

Tunah hian megalencephaly hi damdawi a la awm lo . Mahse, i fain a natna lan chhuah dan a enkawl theih nan enkawlna a awm. I fa natna lan chhuah dan azirin i doctor chuan a hnuaia mite hi a rawt thei ang:

• Seizure a awm chuan antiseizure damdawi pek emaw, a tul chuan , epilepsy surgery tih emaw a ni.
• Vision therapy, physical therapy, occupational therapy, emaw speech therapy ang chi enkawlnaah te tel.
• School-a early intervention program emaw special education course emaw-a inziak lut.

I fa enkawltu team-ah hian tute nge tel ang?

I fain megalencephaly natna lan chhuah dan a enkawl theih nan care team chak tak a awm dawn a ni. He team hian:

• Naupang enkawltu doctor te.
• Neurologist te an ni.
• Neurosurgeon te an ni.
• Hmasawnna lama mithiamte.
• Thusawi, hnathawh leh taksa lama enkawltu te.

Hetiang dinhmun nen hian naupang hmalam hun chu eng ang nge ni ang?

I fa thlir dan chu thil tam takah a innghat a ni. Entirnan, a natna lan chhuah dan a nasat dan leh a chhan bulpui ber chu eng nge ni. I fa hian lu a lian deuh tih loh chu natna dang a nei lo mai thei. A nih loh leh, a symptoms hian i fate thanlenna a nghawng thei bawk. Entîr nân, nî tin hna thawhnaah ṭanpuina dang an mamawh thei a, a nih loh leh sikula zir tûrin ṭanpuina an mamawh thei bawk.

A pawimawh ber chu naupang tin hi an danglam vek a ni. Chuvangin, i fa enkawltu doctor chauhvin i fa dinhmun leh hmalam hun tur dik ber a pe thei che a ni.

`(Megalencephaly)` nen hian engzat nge dam rei zawng?

Chu natna chu a na lo a nih chuan, chu chu a na lo a nih chuan naupang dam rei zawngah nghawng lian tham a nei lo thei tihna a ni. Mahse, a chhan bulpui a zirin, entirnan, chu natna chu damdawi lam natna khirh tak dangin a zui a nih chuan naupang dam rei zawng chu a tawi deuh thei a ni. Symptom na tak tak, epilepsy ang chi te pawhin naupang hmalam hun a nghawng thei bawk. I doctor chuan i fa dinhmun leh a lo puitlin huna i beisei turte a pe thei che a ni.

Hetiang dinhmun hi ven dan tur a awm em?

Tunah hian megalencephaly ven dan tur hriat a la ni lo. Mahse, i chhûngkuaa mi tu emaw chuan he natna hi a nei tih i hriat emaw, rinhlelhna dik tak i neih emaw chuan, genetic counselor i biak theih a ni. Megalencephaly vei fa neih theihna tur i ngaihtuah theih nan an pui thei che a ni.

Engtikah nge Doctor i hmuh ang?

I fain megalencephaly symptom thar emaw, a zual zel emaw a neih chuan i fa doctor hnenah hrilh rawh. I fate hmasawnna record vawn reng a pawimawh bawk a, i fain an kum a zirin a thanlenna tur thil pawimawh (e.g., puihna tel lova thut, thu hmasa ber sawi) a tlin loh chuan i doctor hriattir a pawimawh bawk.

I fain a vawi khatna atana seizure a neih chuan emergency services call nghal rawh.

`(Macrocephaly)` leh `(Megalencephaly)` hi eng nge an danglamna?

`(Macrocephaly)` hi `(Megacephaly)` emaw `(Megalocephaly)` emaw an ti bawk a, a chhan chu a lu sei zawng a lian vang a ni. `(Macrocephaly)` ah chuan naupangin lu lian tak a nei thei a, mahse thluak insiam danah harsatna a awm kher kher lo.

`(Megalencephaly)` (thluak lian tak) hian `(Macrocephaly)` (lu lian tak) a thlen thei. Mahse, `(Macrocephaly)` hi `(hydrocephalus)` emaw `(hydrocephalus)` emaw vang pawh a ni thei. A awlsam zawngin `(Megalencephaly)` hi `(Macrocephaly)` thlentu pakhat chauh a ni.

Hei hi eng nge ni `(Megalencephaly-capillary malformation - MCAP)`?

Megalencephaly-capillary malformation (MCAP) hi vun, thisen kalna kawng, connective tissue leh thluak tissue te a lo thang tam lutuk thin a ni.

Doctor-te chuan pian tirh atangin `(MCAP)` natna hi an hmuchhuak tlangpui. Naupang `(MCAP)` vei piangte hian heng symptoms te hi an nei thin:

• Thluak lian tak (`Megalencephaly`) a ni.
• Lu lian tak (`Macrocephaly`) a ni.
• Capillary malformations - Hengte hi thisen kalna kawng te tak te tak takte thil danglam tak a ni.

Hei hi eng nge ni `(Megalencephaly-polymicrogyria-polydactyly-hydrocephalus - MPPH)`?

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) hi i naute thluak than dan a tichhe thei a ni. An thluak lian (megalencephaly) an nei thei a, an dam chhung kum hnih chhungin a thang chak hle thei bawk. Hei hian naupang thanlenna, che vel leh finna a nghawng thei a ni.

A tawp berah chuan a pawimawh ber! (In lama hruai tur thuchah)

I naute lu chu a taksa dang zawng aiin a lian zawk a nih chuan ngaihtuah buai hi thil pangngai a ni. I naute chu a mah chauha a lu a vawn theih nân emaw, ding nghet taka ṭhut theihna chakna a neih theih nân emaw hun engemaw chen a la ngai thei a ni. I naute enkawltu team chuan i naute thluak chu beisei aia lian a nih chhan hriat tumin test an nei ang.

Lu lian hian harsatna lian tak a thlen ngai lo tih hre reng ang che. A then phei chuan megalencephaly hi a na lo va, ngaihtuahawm tur a awm lo. Kawng lehlamah chuan naupang ṭhenkhat chuan an natna lan chhuah dân enkawl tûrin an dam chhûnga ṭanpuina leh ṭanpuina an mamawh mai thei bawk. Hetiang dinhmun hian naupang zawng zawng hi a nghawng dan inang vek lo. I fa diagnosis chungchang leh nakin lawka i beisei tur te zir belh rawh.Thu dik ber i hmuh theih chu i fa enkawltu doctor hnen atangin a ni. Zawhna zawh leh i rilrua thil awm zawng zawng sawi chhuah hlau suh.

` Megalencephaly, Macrencephaly, lu lian, naute lu lian, thluak lian, naupang natna, genetic natna, thanlenna tlai