Yu gɛt strenj sayn dɛn na yu skin ɔ yu nervɔs sistɛm? Lɛ wi lan bɔt dis (Neurocutaneous Syndrome)!

Yu dɔn ɛva notis se sɔm pipul dɛn kin gɛt spat ɔ bɔmp dɛn we nɔ kɔmɔn na dɛn skin? Sɔntɛnde, dɛn tin ya nɔ kin jɔs bi prɔblɛm wit di skin. Tide wi go tɔk bɔt wan grup fɔ sik dɛn we kɔmplikt smɔl, bɔt rili impɔtant fɔ no. Wi kin kɔl dɛn nyurokyutan sindrom ya . Pan ɔl we di nem kin tan lɛk se i de mek wi fred smɔl, lɛ wi ɔndastand am simpul wan.

Wetin na dɛn nyurokyutan sindrom ya?

Fɔ tɔk am simpul wan, nyurokyutan sindrom na wan grup fɔ sik dɛn we de afɛkt wi skin ɛn wi nervɔs sistɛm (dat na di bren, spɛshal kɔd, ɛn di nerv dɛm). Dɛn tin ya kin mek tumbu dɛn fɔm na difrɛn pat dɛn na di bɔdi, mɔ di skin ɛn di nervɔs sistɛm. Sɔm pan dɛn tumbu ya kin bi kansa, ɔda wan dɛn kin bi kansa (jɔs lumps).

Di impɔtant tin na dat dɛn kayn tin ya kin apin we pɔsin bɔn wit. Dis min se dɛn bɔn pɔsin wit dis sik. Bɔt sɔntɛnde, di sayn dɛn kin tek sɔm tɛm fɔ sho, sɔm tɛm dɛn kin tek am we i yɔŋ ɔ ivin leta. Dɛn kɔl dis grup fɔ sik dɛn bak Phakomatoses . Bikɔs da nem de nɔ kin bɔku, lɛ wi jɔs mɛmba se dɛn kɔl am nyurokyutan sindrom.

Aw kɔmɔn tin dɛn ya kin apin?

Infakt, dis grup fɔ sik dɛn we dɛn kɔl nyurokyutan sindrom nɔ kin bɔku . Bɔt, dɛn kin si sɔm pan dɛn bɔku tɛm pas ɔda wan dɛn. Fɔ ɛgzampul:

• Nyurofibromatosis tayp 1 (NF1): Dis na di kכndyushכn we kכmכn pas כl na dis grup. I kin afɛkt lɛk 1 pan ɛvri 3,000 pipul dɛn .
• Nyurofibromatosis tayp 2 (NF2): Dis nɔ kin ivin apin so. I kin afɛkt lɛk 1 pan ɛvri 25,000 pipul dɛn .
• Tuberous Sclerosis : Dis bak nɔ kin apin so ɔltɛm, i kin afɛkt lɛk wan pan ɛvri 6,000 pipul dɛn .

Si? Dɛn tin ya nɔ kin bɔku lɛk di sik dɛn we wi kin gɛt ɛvride. Bɔt if yu ɔ pɔsin we yu sabi gɛt sɔntin lɛk dis, i rili impɔtant fɔ no bɔt am.

Wetin na di sayn dɛm wae de sho se yu gɛt nyurokutan sik?

di men sayn dεm fכ dεn kכndyushכn ya na we di pikin de gro כ di bכdi we de gro na di skin εn di nerv sistεm . Apat frɔm dɛn tin ya, dɛn sik ya kin afɛkt wi skel sistɛm (dat na wi bon dɛn) ɛn ɔda ɔgan dɛn na di bɔdi bak. So, sɔm kayn sayn dɛm lɛk:

• Bεlεns prכblεm wae yu de waka (fεlin lεk yu de lכs yu bεlε).
• Yu nɔ de yɛri fayn (we yu nɔ de yɛri fayn).
• Prɔblɛm fɔ si (difrɛn prɔblɛm dɛn we de wit di yay).

Bɔt nɔto ɔl di nyurokyutan sindrom dɛn kin gɛt di sem sayn dɛn. Di sayn dɛm kin difrɛn difrɛn wan fɔ di sik. Lɛ wi luk sɔm ɛgzampul dɛn:

• Incontinentia Pigmenti (IP): Dis na wan sik we di rash kin bigin as blista na di skin ɛn leta i kin tɔn to rash we tan lɛk ska . Sɔmtɛm, dis kin kam bak wit nyurolɔjik prɔblɛm. Imajin wan smɔl pikin we kin gɛt blista dɛn na dɛn skin wantɛm wantɛm, we kin dray, ɛn lɛf say dɛn we tan lɛk strenj.
• Nyurofibromatosis tayp 1 (NF1): Dis kin mek di sɔft tisu dɛn we nɔ gɛt kansa gro . di skin in kɔlɔ kin chenj, lɛk brawn bɔn mak (dɛn kin kɔl am bak café-au-lait spat) ɛn smɔl smɔl spat dɛn na di skin fold (lɛk di armpit ɛn groin), kin apin. Sɔntɛnde, growth kin apin bak na di yay.
• Nyurofibromatosis tayp 2 (NF2): Dis kכndyushכn kin mεntal mek akostik nyuroma dεm, we kin mek i gεt prכblεm fכ si, yu nכ de yεri, εn layt brawn bכn mak dεm.
• Schwannomatosis : Dis kin mek yu gɛt sɔm sayn dɛm lɛk wae yu nɔr de fil fayn, yu mɔsul dɛn kin wik, yu nɔ de yɛri fayn, ɛn yu kin fil pen bad bad wan .
• Sturge-Weber Syndrome : Dis na wan sik we big, dak rɛd, pɔt-wayn stɛyn de apia na wan say na di fes. I kin mek bak di blɔd vesel dɛn na di bren chenj ɛn glaukoma , we na wan sik we kin mek di yay prɛshɔn go ɔp. Sɔm pipul dɛn kin gɛt dis sik bak ɛn dɛn kin gɛt prɔblɛm wit dɛn maynd.
• Tuberous Sclerosis : Dis sik kin mek yu gɛt prɔblɛm wit yu bren, yay, skin, at, ɛn lɔng . di men sayn na di divεlכpmεnt fכ di nכn kansa lumps na difrεn כgan dεm.
• Von Hippel-Lindau disease : Dis kin mek yu gɛt tumor we dɛn kɔl hemangioblastomas ɛn angiomas na di adrenal gland , yay, bren, ɛn kidni.

Afta yu dɔn lisin to dis diskripshɔn, yu go dɔn ɔndastand aw dɛn tin ya difrɛn ɛn kɔmpleks. Na dat mek i impɔtant fɔ go to dɔktɔ wantɛm wantɛm if yu gɛt dɛn sik ya.

Yu tink se nyurokyutan sindrom kin mek prɔblɛm dɛn?

Yɛs, i sɔri fɔ no se pipul dɛn we gɛt nyurokyutan sindrom kin gɛt sɔm kayn kansa . Apat frɔm dat, risk de fɔ gɛt ɔda prɔblɛm dɛn bikɔs ɔf dɛn tin ya. Sɔm pan dɛn na:

• Divɛlɔpmɛnt dilɛys`(Divεlכpmεnt dilay)`: fכ nכ si divεlכpmεnt we fit di ej, spεshal wan pan yכŋ pikin dεm.
• Epilepsy : Dis min se yu kin gɛt sik .
• Ed pen : Na ed pen ɔltɛm, sɔm tɛm dɛn de i kin at bad bad wan.
• Ay blɔd prɛshɔn (Hypertension).
• Disabiliti fɔ lan .
• Difrɛn kayn tumbu : Dɛn wan ya kin bi kansa ɔ nɔ kin bi kansa.

So, i rili impɔtant fɔ mek pɔsin we gɛt dis sik de ɔnda dɔktɔ ɔltɛm.

Wetin kin mek pɔsin gɛt nyurokutan sik?

dis nyurokyutan sindrom dεm de kכz fכ sכm chenj dεm (mכtεshכn) na di jin dεm na wi bכdi. Tink bɔt am dis we: wi bɔdi tan lɛk big bluprint, ɛn jin na di instrɔkshɔn dɛn we de insay da bluprint de. If smɔl chenj de pan dɛn instrɔkshɔn ya, i kin afɛkt di we aw di bɔdi de wok.

Sɔntɛnde, dɛn chenj ya we kin apin na di jɛnɛtiks kin kɔmɔt frɔm mama ɛn papa to pikin dɛn . Dat min se dɛn kin pas frɔm wan jɛnɛreshɔn to ɔda jɛnɛreshɔn. Bɔt, nɔto so i kin bi ɔltɛm. Sɔntɛnde, dɛn jɛnɛtik muteshon ya kin apin fɔ no rizin, wit nɔ famili histri . I tan lɛk lɔtri, yu nɔ go ɛva no udat go gɛt am.

Aw dɔktɔ dɛn kin no bɔt dɛn sik ya?

Fɔ no bɔt dɛn sik ya kin tranga smɔl, bikɔs di sayn dɛm kin difrɛn.

Fɔ yɔŋ pikin dɛn , dɔktɔ dɛn kin bigin wit ``wɛl pikin visit'' na wɛl pikin klinik . Na de, di dɔktɔ kin aks yu (di mama ɔ papa) bɔt yu pikin in simptom dɛm ɛn chɛk fɔ si if yu pikin de mit ``pikin divɛlɔpmɛnt maylston dɛm '' (i.e., if dɛn de du tin dɛm we fit dɛn ej, lɛk fɔ smayl, kray, ɛn waka).

Di sayn dɛm wae de kam pan big pipul kin apun leta wae dɛn dɔn liv. Ivin da tɛm de, yu dɔktɔ go aks yu bɔt yu sik dɛn ɛn du yu bɔdi ɛgzam.

If di dɔktɔ tink se di sik we dɛn kɔl neurocutaneous syndrome, i go tɛl am fɔ du sɔm ɔda patikyula tɛst dɛn .

Us kayn tɛst dɛn kin yuz fɔ no dɛn tin ya?

Dɔktɔ dɛn kin yuz blɔd tɛst ɛn difrɛn imej tɛst fɔ no dɛn sik ya. Yu dɔktɔ kin tɛl yu fɔ du tɛst dɛn lɛk dɛn wan ya:

• CT skan we dɛn kin du
• EEG (Electroencephalogram - EEG): Dis de tεst di ilektrikal aktiviti na di bren, spεshal fכ chεk fכ kכndyushכn lεk epilepsy.
• Labɔrɔtɔri tɛst : Dɛn tin ya kin bi blɔd ɔ urine tɛst.
• MRI skan `(MRI)`
• Skin biopsy ɔTumor biopsy: Dis na fɔ tek smɔl sampul pan di skin ɔ lump ɛn chɛk am ɔnda maykroskɔp.

Na bay di infɔmeshɔn we dɛn kin gɛt frɔm dɛn tɛst ya, di dɔktɔ kin mek wan difinitiv diagnosis.

Aw dɛn kin trit dɛn nyurokyutan sindrom ya?

Impɔtant tin na dat, no tritmɛnt stil nɔ de we go ebul fɔ mɛn dis nyurokyutan sindrom kpatakpata .

Dis kin tan lɛk se i sɔri fɔ yɛri, bɔt nɔ giv ɔp op. Pan ɔl we dɛn nɔ go ebul fɔ mɛn dɛn sik ya, dɛn kin trit di sayn dɛn we kin apin . Dat min se if pen de bikɔs ɔf di lump, epilepsy de, prɔblɛm de na di skin, ɛn so ɔda tin dɛn, dɛn kin gi tritmɛnt to ɛni sayn.

Di men gol fɔ tritmɛnt na fɔ mek di pɔsin kɔntinyu fɔ liv in layf fayn fayn wan ɛn fɔ kɔntrol di prɔblɛm dɛn we kin apin.

If mi pikin gɛt dis sik, aw a go ɛp am?

As mama ɔ papa, yu kin fil bɔku we yu kam fɔ no se yu pikin gɛt nyurokyutan sindrom. Dat na nɔmal tin. Di tin we impɔtant pas ɔl na dat dɛn pikin ya go nid spɛshal kia ɛn dɔktɔ fɔ kia fɔ dɛn ɔlsay na dɛn layf . Tɔk to yu dɔktɔ fɔ no ustɛm fɔ kia fɔ yu pikin in sik. Tink bak bɔt dɛn tin ya:

• Si ɛni spɛshal pɔsin we yu dɔktɔ tɛl yu fɔ du.
• Gɛt rɛkɛmɔnded kansa skrinin di rayt tɛm.
• If yu pikin gɛt ɛni nyu sayn , tɛl di dɔktɔ wantɛm wantɛm.

Fɔ liv wit dɛn kayn tin ya kin tranga, bɔt if dɛn gi yu di rayt advays ɛn kia fɔ yu wit lɔv, yu go ebul fɔ win dɛn prɔblɛm dɛn de.

If mi pikin gɛt dis sik, us spɛshal pipul dɛn i fɔ go to?

Pikin we gɛt nyurokyutan sindrom kin nid fɔ gɛt sɔm spɛshal pipul dɛn savis. Yu famili dɔktɔ kin arenj fɔ mek yu mit wit dɛn spɛshal pipul ya. Di spɛshal pipul dɛn we dɛn kin nid mɔ na:

• Audiologist : Fɔ prɔblɛm wit yu yɛri.
• Dɛmatɔlɔjis : Fɔ prɔblɛm dɛn we gɛt fɔ du wit di skin.
• Nyurolɔjis : Fɔ prɔblɛm dɛn we gɛt fɔ du wit di nervɔs sistɛm.
• Ophthalmologist : Fɔ prɔblɛm dɛn we gɛt fɔ du wit di we aw pɔsin de si.

Na wit di sɔpɔt fɔ ɔl dɛn pipul ya, dɛn kin mek di bɛst tritmɛnt plan fɔ di pikin.

If mi ɔ mi pikin gɛt dis sik, wetin a fɔ ɛkspɛkt?

If yu ɔ yu pikin gɛt nyurokyutan sindrom, yu fɔ de go to dɔktɔ ɔltɛm.Sɔntɛm yu go nid fɔ go. Dɛn kin du dɛn tin ya fɔ chɛk fɔ ɛni growth na di lumps ɔ chenj na yu simptom. Tɔk opin wan wit yu dɔktɔ bɔt wetin fɔ ɛkspɛkt bay yu patikyula nyurokyutan sindrom.

Yu tink se dɛn kin mɛn dis nyurokyutan sindrom?

Nɔ, lɛk aw wi bin dɔn tɔk bifo tɛm, no mɛrɛsin nɔ de fɔ dis nyurokyutan sindrom. Bɔt yu mɛdikal tim kin ɛp yu fɔ kɔntrol di sik dɛn we de ambɔg yu ɔ yu pikin. So, nɔ lɔs op.

Yu tink se we de fɔ mek dɛn tin ya nɔ apin?

Dɛn nyurokyutan sindrom ya nɔ kin ebul fɔ avɔyd bikɔs na di chenj dɛn we de apin na di jɛnɛtiks kin kam. Bɔt fɔ tɛst yu pikin dɛn jɛnɛtiks ɛn fɔ advays yu bifo yu gɛt bɛlɛ kin ɛp yu fɔ ɔndastand if yu de pan denja fɔ pas wan tin we nɔ fayn fɔ yu pikin.

Aw a go no if a de pan denja fɔ gɛt dis sik?

If pɔrsin na yu famili gɛt nyurokyutan sindrom, yu (ɔ yu pikin) kin gɛt smɔl risk fɔ gɛt dɛn kayn sik ya. So, if pɔrsin na yu famili gɛt dis sik, tɛl yu dɔktɔ. Dɔn yu dɔktɔ kin tɛl yu fɔ du tɛst fɔ no if yu gɛt jɛnɛtiks, if nid de.

Fɔ dɔn, mɛsej we yu kin kɛr go na os

Nyurokyutan sindrom na di jεnεtik kכndyushכn dεm we de fכ yu layf we kin afekt yu nerv sεstem, skin, εn כda כgan dεm. Na nɔmal tin fɔ fil fɔ fred ɛn wɔri we yu kam fɔ no se yu gɛt dis sik.

Di impɔtant tin na fɔ no se nɔto yu wangren de. Fɔ no yu patikyula kayn nyurokyutan sindrom ɛn fɔ fɛn mɛdikal tim we spɛshal fɔ trit am na di bɛst we fɔ mek shɔ se yu gɛt di bɛst kia ɛn di rayt tritmɛnt.

A op se dis infɔmeshɔn go ɛp yu. If yu gɛt ɛni kwɛstyɔn, nɔ shem fɔ tɔk to yu dɔktɔ. Stay wit wɛlbɔdi!

` Nyurokyutan sindrom, nyurokutan sindrom, jεnεtik sik, skin nodul, sik dεm na di nεv sistεm, NF1, NF2, tuberous sclerosis, phacomotoses