Surgical Outcomes of Patients with Beckwith-Wiedemann Syndrome.

PURPOSE: The purpose of this study was to evaluate treatment and surgical outcomes of patients of Beckwith-Wiedemann Syndrome (BWS) treated at a tertiary children's hospital.

METHODS

A retrospective review of infants evaluated at Texas Children's Hospital for BWS from August 2000 to December 2016 was performed. Data collected included demographic information, clinical presentation, genetic evaluation, fetal imaging, operative treatment, and outcomes.

RESULTS

Forty-seven children with a diagnosis of BWS were identified. Sixty-four percent (n=30) had a genetic mutation in an imprinting domain of chromosome 11p15. Thirty-two patients (68%) underwent at least one operation related to BWS with a median of 2 [range: 0-8] surgical procedures per patient. Sixteen underwent omphalocele repair, 12 had partial glossectomies-, 7 underwent surgeries related to hemihypertrophy, and 6 had resection of an embryonal tumor (two adrenal cortical adenoma, one Wilms' tumor, two hepatoblastoma). Overall, survival was 100% with feeding difficulty (47%) being the most frequent complication.

CONCLUSION

A substantial number of patients with Beckwith-Wiedemann Syndrome will require surgery. However, overall outcomes are similar between those that require surgery and those that do not.

LEVEL OF EVIDENCE: Level III.