Cov Sturge-Weber syndrome

Mob plawv Sturge-Weber syndrome (SWS) yog ib qho kev mob uas tsis tshua muaj tshwm sim thaum yug los. Ib tug menyuam yaus tus mob no yuav muaj lub cim yug ua chaw (feem ntau yog ntawm lub ntsej muag) thiab tej zaum yuav muaj teeb meem txog cov hlab ntsha.

Hauv ntau tus neeg, qhov ua rau ntawm Sturge-Weber yog vim muaj kev hloov ntawm lub GNAQ noob. Tus gene no cuam tshuam rau cov ntshav me me hu ua capillaries. Cov teeb meem hauv cov hlab ntsha ua rau cov chaw nres nkoj-caw tsuas ua rau.

Sturge-Weber tsis tau xav kom dhau (pub txais) los ntawm cov tsev neeg.

Cov tsos mob ntawm SWS suav nrog:

• Chaw nres nkoj-caw tsuas (feem ntau tshwm sim ntawm lub ntsej muag sab sauv thiab lub qhov muag-dua li lub cev tas)
• Qaug dab peg
• Mob taub hau
• Tuag tes tuag taw lossis tsis muaj zog ntawm ib sab
• Kev kawm tsis taus
• Lub ntsej muag dig (Lub ntsej muag ua pa)
• Qes qes (hypothyroidism)

Mob caj pas yuav yog ib qho cim ntawm qhov mob.

Kev ntsuam xyuas yuav muaj xws li:

• Iav scan
• MRI scan
• Kev xoo hluav taws xob

Kev kho yog nyob ntawm tus neeg lub cim thiab tsos mob, thiab tej zaum yuav suav nrog:

• Anticonvulsant tshuaj rau qaug dab peg
• Qhov muag nti lossis phais mob kho pob qau
• Laser kho rau cov chaw nres nkoj-caw tsuas
• Kho lub cev ua rau tuag tes tuag taw lossis tsis muaj zog
• Kev phais mob rau lub hlwb kom tiv thaiv qaug dab peg

Cov chaw hauv qab no tuaj yeem muab cov ntaub ntawv ntau ntxiv rau SWS:

• Lub Sturge-Weber Foundation - sturge-weber.org
• Koom Haum Koom Tes rau Cov Kab Mob Tsis Txaus - rarediseases.org/rare-diseases/sturge-weber-syndrome/#supporting-organizations
• NIH / NLM Genetics Hauv Tsev Ntawv - ghr.nlm.nih.gov/condition/sturge-weber-syndrome

SWS feem ntau tsis muaj kev phom sij txog lub neej. Tus mob yuav tsum tau soj qab taug qab mus tag lub neej. Tib neeg lub neej zoo yog nyob ntawm seb lawv cov tsos mob zoo li cas (xws li chua leeg) tuaj yeem tiv thaiv lossis kho.

Tus neeg yuav tsum tau mus ntsib kws kho qhov muag (kws kho qhov muag) tsawg kawg ib xyoos ib zaug los kho tus mob glaucoma. Lawv kuj yuav tsum tau mus ntsib kws kho mob hlwb kom kho tau chua leeg thiab lwm cov tsos mob ntawm lub paj hlwb.

Cov teeb meem no tuaj yeem tshwm sim:

• Txawv cov hlab ntshav loj dua cov pob txha taub hau
• Txuas ntxiv kev loj hlob ntawm qhov chaw nres nkoj-caw tsuas
• Kev loj hlob qeeb
• Kev xav thiab kev coj cwj pwm
• Glaucoma, uas tuaj yeem ua rau dig muag
• Tuag tes tuag taw
• Qaug dab peg

Tus kws kho mob yuav tsum kuaj xyuas txhua qhov ua ntej suav daws, suav nrog lub khob ntim quav. Qaug dab peg, cov teeb meem tsis pom kev, tuag tes tuag taw, thiab kev hloov pauv ntawm lub zog khiav ceev lossis xeev hlwb yuav txhais tau tias kev npog lub hlwb tau koom nrog. Cov tsos mob no yuav tsum tau soj ntsuam tam sim ntawd.

Tsis muaj kev paub txog kev tiv thaiv.

Encephalotrigeminal angiomatosis; SWS

• Mob Sturge-Weber syndrome - txhais taw ntawm taw
• Cov Sturge-Weber syndrome - ceg
• Chaw nres nkoj cawv stain rau ntawm tus menyuam lub ntsej muag

Flemming KD, Xim av RD. Kev tshem tawm phaum thiab keeb kwm ntuj ntawm mob tshwm sim tsis muaj ntshav tsis txaus. Hauv: Winn HR, ed. Youmans thiab Winn Neurological phaisCov. 7 tus ed. Philadelphia, PA: Elsevier; 2017: chap 401.

Zoo nkauj SM, Garzon MC. Vascular malformations. Hauv: Eichenfield LF, Frieden IJ, Mathes EF, Zaenglein AL, eds. Neonatal thiab Menyuam Mos DermatologyCov. 3lawm ed. Philadelphia, PA: Elsevier Saunders; Xyoo 2015: chap 22.

Sahin M, Ullrich N, Srivastava S, Pinto A. Neurocutaneous syndromes. Hauv: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm PediatricsCov. 21st ed. Philadelphia, PA: Elsevier; 2020: cha 614.