Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome waa cillad koritaan oo keenta cabir ballaaran oo jirka ah, xubno waaweyn, iyo calaamado kale. Waa xaalad lagu dhasho, taas oo macnaheedu yahay inay joogto dhalashada. Calaamadaha iyo astaamaha cilladdu way ku kala duwan yihiin xoogaa cunug ilaa cunug.

Dhallaanimadu waxay ku noqon kartaa xilli xasaasi ah dhallaanka xaaladan leh maxaa yeelay suuragalnimada:

• Sonkorta dhiigga oo hooseysa
• Nooc ka mid ah hernia oo loo yaqaan 'omphalocele' (marka la joogo)
• Carrabka weyn (macroglossia)
• Heerka sii kordhaya ee koritaanka burooyinka. Burooyinka Wilms iyo hepatoblastomas waa burooyinka ugu badan ee carruurta leh cilladan cilladan.

Beckwith-Wiedemann syndrome waxaa sababa cillad ku timid hiddo-wadaha kromosome 11. Qiyaastii 10% kiisaska waxaa loo gudbin karaa qoysaska.

Calaamadaha iyo astaamaha Beckwith-Wiedemann syndrome waxaa ka mid ah:

• Cabbir weyn oo loogu talagalay ilmaha dhashay
• Calaamadda dhalashada casaanka wejiga ama baalasha indhaha (nevus flammeus)
• Kala-baxa ku yaal qaybaha dhegaha
• Carrabka weyn (macroglossia)
• Sonkorta dhiigga oo hooseysa
• Ciladda darbiga caloosha (hernia hernia ama omphalocele)
• Ballaarinta xubnaha qaar
• Baddasho dhinac jirka ah (hemihyperplasia / hemihypertrophy)
• Koritaanka buro, sida burooyinka Wilms iyo hepatoblastomas

Bixiyaha daryeelka caafimaad wuxuu sameyn doonaa baaritaan jireed si loo eego calaamadaha iyo astaamaha cudurka Beckwith-Wiedemann. Badanaa tani waa ku filan tahay in lagu ogaado cudurka.

Tijaabooyinka cilladda waxaa ka mid ah:

• Baadhitaannada dhiigga ee sonkorta dhiigga oo hooseysa
• Daraasaadka koromosoomyada ee cilladaha ku dhaca koromosoomka 11
• Ultrasound ee caloosha

Dhallaanka qaba sonkorta dhiigga ee hooseysa waxaa lagu daaweyn karaa dheecaano laga siiyo xididka (xididka, IV). Dhallaanka qaarkood waxay u baahan karaan daawo ama maareyn kale haddii sonkorta dhiigga ee hooseysa ay sii socoto.

Ciladaha ku jira darbiga caloosha ayaa u baahan kara in la dayactiro. Haddii carrabka weyni ka dhigo mid adag in la neefsado ama wax la cuno, qalliin ayaa loo baahan karaa. Carruurta ku koray dhinac dhinac jirka ah waa in loo fiirsadaa laf-dhabarka oo qalooca (scoliosis). Ilmaha sidoo kale waa in si dhow loola socdaa horumarka burooyinka. Baadhitaanka buro waxaa ka mid ah baaritaanka dhiigga iyo ultrasound-ka caloosha.

Carruurta qaba Beckwith-Wiedemann syndrome caadi ahaan waxay ku noolaadaan nolol caadi ah. Daraasad dheeri ah ayaa loo baahan yahay si loo sameeyo macluumaad dabagal dheer ah.

Dhibaatooyinkan ayaa dhici kara:

• Horumarinta burooyinka
• Dhibaatooyinka quudinta oo ay ugu wacan tahay carrabka oo weynaaday
• Dhibaatooyinka neefsashada oo ay ugu wacan tahay carrabka oo weynaaday
• Scoliosis sababtoo ah hemihypertrophy

Haddii aad leedahay ilmo qaba Beckwith-Wiedemann syndrome oo astaamo walwal leh ay soo baxaan, wac dhakhtarka carruurta isla markiiba.

Ma jiro ka hortag la yaqaan oo loo yaqaan 'Beckwith-Wiedemann syndrome'. La talinta hidaha ayaa laga yaabaa inay qiimo u leedahay qoysaska jeclaan lahaa inay carruur badan dhalaan.

• Beckwith-Wiedemann syndrome

Devaskar SU, Garg M. Cilladaha dheef-shiid kiimikaad-karbohidratka ee dhallaanka. Gudaha: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff iyo Martin ee Neonatal-Perinatal Medicine. 10aad ed. Philadelphia, PA: Elsevier Saunders; 2015: cutubka 95.

Madan-Khetarpal S, Arnold G. Cilladaha hidda-socodka iyo xaaladaha dysmorphic. Gudaha: Zitelli, BJ, McIntire SC, Nowalk AJ, eds. Zitelli iyo Davis ’Atlas ee Cilad-garaaca Jirka ee Carruurta. 7aad ed. Philadelphia, PA: Elsevier; 2018: cutubka 1.

Sperling MA. Hypoglycemia. Gudaha: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Buugga Buugga Caafimaadka Caruurta. 21aad ed. Philadelphia, PA: Elsevier; 2020: cutubka 111.