Background Beckwith-Wiedemann syndrome (BWS) phenotype usually mitigates with age and data on adulthood are limited. Our study aims at reporting phenotype evolution and health issues in adulthood. Methods 34 patients (16 males), aged 18-58 years (mean 28.5) with BWS were enrolled. Results 26 patients were molecularly confirmed, 5 tested negative, and 3 were not tested. Final tall stature was present in 44%. Four patients developed Wilms' Tumor (2, 3, 5, and 10 years, respectively); one hepatoblastoma (22 years); one acute lymphoblastic leukemia (21 years); one adrenal adenoma and testicular Sertoli cell tumor (22 and 24 years, respectively); and three benign tumors (hepatic haemangioma, uterine myoma, and mammary fibroepithelioma). Surgery for BWS-related features was required in 85%. Despite surgical correction several patients presented morbidity and sequelae of BWS pediatric issues: pronunciation/swallow difficulties (n = 9) due to macroglossia, painful scoliosis (n = 4) consistent with lateralized overgrowth, recurrent urolithiasis (n = 4), azoospermia (n = 4) likely consequent to cryptorchidism, severe intellectual disability (n = 2) likely related to neonatal asphyxia and diabetes mellitus (n = 1) due to subtotal pancreatectomy for intractable hyperinsulinism. Four patients (two males) had healthy children (three physiologically conceived and one through assisted reproductive technology). Conclusions Adult health conditions in BWS are mostly consequent to pediatric issues, underlying the preventive role of follow-up strategies in childhood. Malignancy rate observed in early adulthood in this small cohort matches that observed in the first decade of life, cumulatively raising tumor rate in BWS to 20% during the observation period. Further studies are warranted in this direction.

Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome.

Background:Macroglossia, a cardinal feature of the (epi)genetic disorder Beckwith-Wiedemann syndrome, is associated with obstructive sleep apnea, speech and/or feeding difficulties, and dental or jaw malalignment. These sequelae may be treated and/or prevented with tongue reduction surgery; the auth

The Utility of Early Tongue Reduction Surgery for Macroglossia in Beckwith-Wiedemann Syndrome

Macroglossia is observed in the majority of patients with Beckwith-Wiedemann syndrome (BWS), a congenital condition with characteristic anomalies. In addition, sleep disordered breathing (SDB) associated with macroglossia has occasionally been noted in BWS patients, for which tongue reduction surgery is generally performed. However, macroglossia is related to various health problems, such as eating and articulation disorders, attention deficit disorder, enuresis, and thorax deformation, as well as aesthetic issues. Therefore, in addition to treating airway obstruction, tongue reduction surgery can also exert favorable effects on the overall quality of life (QOL) of patients. However, surgical indications for tongue reduction have yet to be established and reports on QOL assessments after surgery are rare. The OSA-18 questionnaire is used for screening SDB and is also useful for assessing the effect of tongue reduction surgery on QOL. We report a patient whose QOL was improved by tongue reduction surgery. On the basis of our patient's results, we recommend tongue reduction surgery in early childhood not only to treat SDB but also to improve QOL.

Improved Quality of Life for Children With Beckwith-Wiedemann Syndrome Following Tongue Reduction Surgery.

Purpose of review To discuss the current surgical management of macroglossia. Recent findings Traditional surgical management of severe macroglossia has been with anterior wedge or keyhole resection. Long-term follow-up has been limited, and only recently have assessments been done regarding functional and aesthetic outcomes. New methods including double stellate and combination approaches have shown promise, though with limited case size reports. Addressing macroglossia in three dimensions may be the most effective way of achieving positive positional, speech and aesthetic outcomes, but comparative studies are lacking. Other causes of macroglossia, such as vascular malformations, can be managed with less aggressive measures such as laser and radio-frequency ablation. Summary The aggressiveness of the management should match the severity of the symptoms. The anterior wedge resection and modified keyhole incisions are the most well studied operative strategies. Short and long-term outcome data are limited, and neither method is definitively superior. Less aggressive measures are options for less severe macroglossia. Surgical management of macroglossia should be tailored to each individual patient and in accordance to surgeon experience and expertise.

Current surgical management of macroglossia.

Introduction Macroglossia occurs in 80% to 99% of patients with Beckwith-Wiedemann syndrome (BWS) and a variety of surgical techniques for tongue reduction are offered by surgeons. The purpose of this study is to evaluate the postoperative outcomes of the anterior "W" tongue reduction technique in patients with BWS. Methods A retrospective review was conducted of all patients diagnosed with BWS that underwent an anterior "W" tongue reduction for macroglossia in the past 7 years, performed by 2 surgeons. Demographics, procedural characteristics, perioperative outcomes, and complications were assessed. Results A total of 19 patients met inclusion criteria consisting of 8 male and 11 female patients. The mean age at the time of surgery was 405 days, mean surgeon operating time was 1.06 h, and mean length of follow-up was 467 days. Postoperative oral competence was observed in 100% of patients. There was no reported history of sleep apnea or airway compromise. Speech delay was seen in 4 patients pre- and postoperatively. Feeding issues decreased from 7 patients preoperatively to 1 patient postoperatively. Preoperative prevalence of class III malocclusion (53%) and isolated anterior open bite (26%) decreased postoperatively to 37% and 16%, respectively. The only reported complications were superficial tip wound dehiscence in 3 patients treated with nystatin antifungal therapy. None of the patients required revisional surgery. Conclusion Patients treated with the anterior "W" tongue reduction technique had low rates of perioperative complications and significant improvements in oral competence. Anterior "W" tongue reduction is safe and effective for the correction of macroglossia in patients with BWS.

Anterior "W" Tongue Reduction for Macroglossia in Beckwith-Wiedemann Syndrome.

We report sensory changes after tongue reduction by the Harada-Enomoto method for macroglossia in a 20-year-old woman with Beckwith-Wiedemann syndrome. Sensory tests were performed before surgery and 1 week and 2 months after surgery. We assessed the static tactile threshold, vibration sense, static 2-point discrimination, pain threshold, and taste. No sensory loss of any category tested was observed after tongue reduction.

Kanako Matsumoto

Papers

Sensory changes after tongue reduction for macroglossia.