I vun emaw, i nervous system-ah emaw symptom mak tak tak i nei em? He (Neurocutaneous Syndrome) chungchang hi i zir chiang ang u!

Mi thenkhat chuan an vunah hian hmun danglam tak tak emaw, bumps emaw an nei tih i hmu ngai em? A châng chuan hengte hi vun lama harsatna mai ni lovin a tam thei bawk. Vawiin hian natna pawl khat, tlem a buaithlak deuh, mahse hriat a pawimawh em em te kan sawi dawn a ni. Hengte hi neurocutaneous syndromes kan ti a ni . A hming hi a hlauhawm deuhin a lang thei a, mahse awlsam takin i hrethiam ang u.

Heng neurocutaneous syndromes te hi engte nge ni?

A awlsam zawngin sawi ila, neurocutaneous syndromes hi kan vun leh kan nervous system (chu chu thluak, ruhro leh nerve) tichhe thei natna pawl a ni. Heng dinhmunte hian taksa hmun hrang hrangah, a bik takin vun leh nervous system-ah tumor a siam thei a ni. Heng tumor thenkhat hi cancer a ni thei a, thenkhat erawh chu noncancerous (lump chauh) a ni thei thung.

A pawimawh ber chu heng dinhmunte hi pianpui a nih vang a ni. Chumi awmzia chu mi chu a pianpuiin a natna nei a ni tihna a ni. Mahse, a chang chuan symptoms te hi a lo lang thei a, a chang chuan tleirawl lai emaw, a hnu lamah emaw pawh a ni thei. He natna pawl hi Phakomatoses an ti bawk. Chu hming chu a lar vak loh avangin neurocutaneous syndrome an ti tih hi i hre reng ang u.

Heng dinhmunte hi engtiang chiahin nge a awm?

Dik tak chuan, he natna pawl neurocutaneous syndromes an tih hi a tlem hle . Amaherawhchu, thenkhat chu a dang aiin hmuh tam zawk an ni. Entir nan:

• Neurofibromatosis type 1 (NF1): Hei hi he pawla natna awm tam ber a ni. Mi 3,000 zinga 1 velin a nghawng a ni .
• Neurofibromatosis type 2 (NF2): Hei hi a tam lo zawk. Mi 25,000 zinga 1 velin a nghawng a ni .
• Tuberous Sclerosis : Hei pawh hi a tlem hle a, mi 6,000 zinga pakhat velin a vei a ni .

Hmu? Hengte hi nitin natna angin a hluar lo. Mahse nangmah emaw, i hriat emaw hian hetiang thil hi i neih chuan i hriat chian a pawimawh hle.

Neurocutaneous syndrome natna lan chhuah dan chu engte nge ni?

Heng natna lan chhuah dan ber chu vun leh nervous system a lo thang dan pangngai lo emaw lump emaw a ni . Heng bakah hian heng syndrome te hian kan ruh (skeletal system ) (chu chu kan ruh) leh taksa peng dangte pawh a nghawng thei bawk. Chuvangin, symptoms te chu:

• Kal laiin balance lama harsatna (i balance hloh ang maia inhria).
• Hriatna lama harsatna (hriatna tlahniam).
• Mit lama harsatna (mit lama harsatna hrang hrang).

Mahse, neurocutaneous syndrome zawng zawng hian symptom inang an nei vek lo. A natna lan chhuah dan hi a dinhmun a zirin a inang lo. Entirna tlemte han thlir ila:

• Incontinentia Pigmenti (IP): Hei hi vunah vunah hnah hring (blisters) angin a intan a, a hnuah hliam ang maia hring (scar-like rash)-ah a lo chang ta a ni . A châng chuan, hei hi thluak lam harsatna nen pawh a inzawm thei bawk. Naupang tê tê pakhatin an vunah a hring chhuak nghâl a, chu chu a lo vawt a, hmun mak tak tak a hnutchhiah ta hi han mitthla teh.
• Neurofibromatosis type 1 (NF1): Hei hian cancer ni lo soft tissue a tipung tlangpui . Vun rawng danglam, brown birthmarks (café-au-lait spots an ti bawk) leh vun folds (armpits leh groin ang chi)-a spot te te te a awm thei. A chang chuan mit lamah pawh thanlenna a awm thei bawk.
• Neurofibromatosis type 2 (NF2): He natna hian acoustic neuromas a thlen ber a, hei hian mit lama harsatna, hriatna hloh, leh pian chhinchhiahna dum hring (light brown birthmarks) a thlen thei a ni.
• Schwannomatosis : Hei hian natna lan chhuahna a thlen thei a, chu chu rilru hahna, taksa ruh chak lohna, hriatna hloh, leh natna nasa tak a ni .
• Sturge-Weber Syndrome : Hei hi hmai sir khatah port-wine stain lian tak, dum dum, port-wine stain a lo lang thin a ni. Tin, thluaka thisen kalna kawng a tidanglam thei bawk a, glaucoma , mit pressure tisangtu natna a thlen thei bawk. Mi thenkhat chuan seizure leh intellectual disability an nei thei bawk.
• Tuberous Sclerosis : He natna hian thluak, mit, vun, thinlung leh lungah harsatna a thlen tlangpui . A lan chhuah dan ber chu taksa peng hrang hranga cancer ni lo lumps lo awm hi a ni.
• Von Hippel-Lindau natna : Hei hian adrenal glands , mit, thluak, leh kal (kidney)-ah te hemangioblastomas leh angiomas an tih tumor a thlen thei a ni.

He sawifiahna i ngaihthlak hnu hian heng dinhmunte hi a chi hrang hrang leh a buaithlak zia chu i hrethiam mai thei. Chuvang chuan heng symptoms te hi i neih chuan doctor advice lak nghal a pawimawh hle.

Neurocutaneous syndrome hian harsatna a thlen thei em?

Ni e, vanduaithlak takin, neurocutaneous syndrome nei mite chu cancer chi hrang hrang vei theihna a sang hle . Tin, heng natna avang hian harsatna dang pawh a awm thei bawk. Chung zinga ṭhenkhat chu:

• Hmasawnna lama tlai lutuk`(Developmental delays)`: Kum nena inmil hmasawnna hmuh loh, a bik takin naupang tê tête.
• Epilepsy : Hei hian seizures tihna a ni .
• Lu na : Lu na fo, a chang chuan na tak tak.
• Thisen sang (Hypertension).
• Zirna lama harsatna nei te .
• Tumor chi hrang hrang : Hengte hi cancer a ni thei a, a ni lo thei bawk.

Chuvangin, he natna vei tan chuan damdawi lam enkawlna hnuaia awm reng a pawimawh hle.

Eng thilin nge neurocutaneous syndrome hi a thlen?

Heng neurocutaneous syndromes te hi kan taksa chhunga genes inthlak danglamna (mutations) thenkhat avanga lo awm a ni. Hetiang hian han ngaihtuah teh: kan taksa hi blueprint lian tak ang a ni a, chu blueprint-a instruction awm chu genes a ni. Heng thupekteah hian inthlak danglamna tlemte a awm chuan taksa hnathawh dan a nghawng thei a ni.

A châng chuan, heng thlahtute inthlâk danglamna hi nu leh pate aṭanga fate rochun a ni . Chumi awmzia chu thlah khat atanga thlah dangah an inthleng thei tihna a ni. Mahse, chutiang chu a ni ngai lo. A châng chuan, heng genetic mutations te hi chhan hriat lohvin a thleng thei a, chhungkaw history pawh a awm lo . Lottery ang mai a ni a, tuin nge dawng ang tih i hre ngai lo.

Engtin nge doctor-te hian heng natnate hi an hriat chhuah?

Heng natnate hi hriatchhuah hi a buaithlak deuh thei a, a natna lan chhuah dan a inang lo hle.

Naupang tê tê tan chuan doctor-te chuan well-child clinic-a ``well-child visit'' aṭangin an ṭan ṭhin. Chutah chuan doctor chuan nangmah (nu leh pa) hnenah i fate natna lan chhuah dan a zawt a, i fain ``naupang hmasawnna milestone '' (i.e., an kum nena inmil thil an ti em tih, nuihzatthlak, kekawrte, leh kea kal te) a tlin em tih a enfiah thin.

Puitlingah chuan natna lan chhuah dan hi nakin lawkah a lang thei. Chuti chung pawh chuan i doctor chuan i natna lan chhuah dan a zawt ang che a, taksa enfiahna a nei ang che.

Doctor chuan neurocutaneous syndrome a rinhlelh chuan test chiang zawk engemaw zat tih a rawt ang .

Hengte hi hriat theih nan eng ang test nge hman thin?

Doctor-te chuan heng natna te hi an hriat theih nan thisen test leh imaging test hrang hrang an hmang tlangpui. I doctor chuan hetiang test hi a rawt thei ang:

• CT scan a ni
• EEG (Electroencephalogram - EEG): Hei hian thluaka electrical activity a test a, a bik takin epilepsy ang chi condition te enfiah nan a hmang thin.
• Laboratory test : Hengte hi thisen emaw zun test emaw a ni thei.
• MRI scan `(MRI)` tih a ni
• Vun biopsy emawTumor biopsy: Hei hi vun emaw lump emaw sample te tak te lak a, microscope hmanga enfiah a ni.

Heng test atanga information a hmuh atang hian doctor chuan definitive diagnosis a siam thei a ni.

Engtin nge heng neurocutaneous syndromes te hi enkawl an nih?

Pawimawh tak chu he neurocutaneous syndrome hi tidam kim thei tur damdawi a la awm lo .

Hei hi hriat chuan lungchhiatthlak takin a lang thei a, mahse beiseina chu bansan suh. Heng natnate hi tihdam theih a nih loh laiin, a lan chhuah dan chu enkawl theih a ni . Chu chu lump avanga natna a awm chuan epilepsy a awm a, vun lama harsatna a awm a, chutiang chuan symptom tin chu enkawlna pek a ni.

Enkawlna tum ber chu damlo nunphung a tha thei ang bera vawn that leh harsatna lo thleng tur thunun hi a ni.

Ka fa hian he natna hi a nei a nih chuan engtin nge ka puih theih ang?

Nu leh pa i nih angin i fain neurocutaneous syndrome a nei tih i hriat chuan rilru natna nasa tak i nei mai thei. Chu chu thil pangngai a ni. A pawimawh ber chu heng naupangte hian an dam chhungin enkawlna bik leh damdawi lam enkawlna bik an mamawh dawn a ni . I fa chhinchhiahna enkawl dan dik tak hriat tumin i doctor nen inbia ang che. Heng thilte hi ngaihtuah bawk ang che:

• I doctor-in a rawt specialist eng pawh hmu rawh.
• Cancer screening recommended te chu a hun takah la rawh.
• I fain symptom thar a neih chuan , doctor hnenah hriattir nghal rawh.

Chûng dinhmunte nêna nun chu thil harsa tak a ni thei a, mahse, damdawi lam thurâwn dik tak leh hmangaihna nêna enkawl a nih chuan, chu harsatnate chu hneh theih a ni.

Ka fa hian he natna hi a nei a nih chuan eng specialist nge a hmuh ang?

Naupang neurocutaneous syndrome nei chuan specialist engemawzat rawngbawlna a mamawh thei a ni. I chhungkaw doctor chuan heng specialist te nena inhmuhkhawmna tur ruahmanna a siamsak thei che a ni. Specialist mamawh berte chu:

• Audiologist : Hriatna lama harsatna nei tan.
• Dermatologist : Vun lama harsatna nei tan.
• Neurologist : Nervous system nena inzawm harsatna nei tan.
• Mit lam doctor : Mit lama harsatna nei tan.

Heng mi zawng zawngte puihnain naupang enkawlna tur ruahmanna tha ber siam theih a ni.

Kei emaw ka fa emaw hian hetiang dinhmun hi kan nei a nih chuan eng nge ka beisei ang?

Nang emaw i fa emaw hian neurocutaneous syndrome i neih chuan medical appointment neih fo tur a ni.I kal a ngai mai thei. Hengte hi lumps-a lo thang emaw, i symptoms-a inthlak danglamna emaw enfiah nan an ti thin. I specific neurocutaneous syndrome atanga i beisei tur chu i doctor nen zalen takin sawiho rawh.

He neurocutaneous syndrome hi tihdam theih a ni em?

Ni lo, kan sawi tawh ang khan he neurocutaneous syndrome hi damdawi a awm lo . Mahse, i medical team chuan nangmah emaw, i fa emaw tibuaitu symptoms te chu enkawl turin an pui thei che a ni. Chuvangin, beiseina hloh suh.

Heng dinhmunte hi ven dan tur a awm em?

Heng neurocutaneous syndromes te hi genetic changes avanga lo awm a nih avangin ven theih a ni lo . Mahse, genetic test leh preconception counseling te hian i fate hnena genetic abnormality i thlen theihna tur hlauhawm i nih leh nih loh hriatthiamna a pe thei che a ni.

Engtin nge he natna hi ka vei theihna tur hlauhawm ka nih leh nih loh ka hriat theih ang?

I chhungkuaa mi pakhatin neurocutaneous syndrome a neih chuan nangmah (a nih loh leh i fa) hian heng natna hi i vei theihna chance a sang deuh mai thei . Chuvangin, i chhungkuaa tu emaw hian he syndrome hi a nei a nih chuan i doctor hnenah hrilh rawh. Chumi hnuah chuan i doctor chuan a tul chuan genetic mutations awm leh awm loh enfiah turin genetic test neih a rawt thei ang.

A tawp berah chuan take-home message

Neurocutaneous syndromes hi dam chhung zawnga genetic condition a ni a, i nervous system, vun leh taksa peng dangte a nghawng thei a ni. Hetiang natna i nei tih i hriat hian hlauhna leh lungkhamna i neih hi thil pangngai a ni.

A pawimawh ber chu nangmah chauh i ni lo tih hriat hi a ni. I neurocutaneous syndrome chi khat bik hriatchhuah a, a enkawlna lama tui tak medical team zawn hi enkawlna tha ber leh enkawlna dik tak i dawn theihna tur kawng tha ber a ni.

He thu hi in tan a tangkai ngei ka beisei. Zawhna i neih chuan Doctor nen inbiakna neih hreh suh. Hrisel takin awm rawh!

` Neurocutaneous syndromes, neurocutaneous syndromes, genetic natna, vun nodules, nervous system natna, NF1, NF2, tuberous sclerosis, phacomotoses