[MIM 130 650]

Prevalence: 1/14,000. Multigenic disease that can be:

-        sporadic

-         linked to a dysregulation of the expression of genes in the chromosomal region 11p15.5, subjected to parental imprinting.

-        linked to a cytogenetic anomaly: duplication of the 11p15.5 region of the paternal chromosome or translocation or inversion of the 11p15 region of the maternal chromosome.

The 11p15.5 region includes the IGF2 gene (insulinlike growth factor 2). This gene, the maternal allele of which remains silent, is essential to fetal growth.

During the neonatal period:         macroglossia, omphalocele (or large umbilical hernia), hypoglycemia (transient hyperinsulinism), macrosomia, sometimes cardiac malformation. 

During childhood:         mild mental retardation, cryptorchidism, organomegaly, significant risk of solid tumor (kidney [WT2 gene], liver, adrenal gland, gonads). Body hemihypertrophy is present in 30 % of cases: the risk for solid tumor is increased in this subpopulation.

Anesthetic implications: 

difficult intubation in case of macroglossia, mostly if the child is less than one year of age and presents sleep obstructive apneas. A longer laryngoscope or videolaryngoscope blade may be helpful to improve the laryngoscopic view in case of macroglossia. Monitoring of blood glucose.

References:

-        Weng EY, Mortier GR, Graham JM Jr.
Beckwittt-Wiedemann syndrome: an update and review for the primary pediatrician.
Clin Pediatr 1995; 1995; 317-26

-        Suan C, Ojeda R, Garcia-Perla JL, Perez-Torres MC.
Anaesthesia and the Beckwitt-Wiedemann syndrome.
Paediatr Anaesth 1996; 6: 231-3

-        Celiker V, Basgul E, Karagoz AH.
Anesthesia in Beckwitt-Wiedemann syndrome.
Pediatr Anesth 2004; 14: 778-80.

-        Choudhury M, Malik M, Singh P, Kiran U.
Anesthesia for a infant with Backwitt-Wiedemann syndrome who underwent open heart surgery for complete atrioventricular canal defect.
Pediatr Anesth 2012; 22: 1139-40

-        Eaton J atiles R, Tuchman JB.
Glidescope for management of the difficult airway in a child with Beckwitt-Wiedemann syndrome.
Pediatr Anesth 2009; 19: 696-8.

-        Grim KJ, Aganga DO.
Glidescope for airway management in patients with Beckwitte-Wiedemann syndrome: an update.
Pediatr Anesth 2016; 26: 222-3.

-        Sequera-Ramos L, Duffy KA, Fiadjoe JE, Garcia-Marcinkiewicz AG, Zhang B, Perate A, Kalish JM.
The prevalence of difficult airway in children with Beckwith-Wiedemann syndrome: a retrospective cohort study.
Anesth Analg 2021;133:1559–67

Updated: December 2021