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

Abstract

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 authors sought to determine whether certain Beckwith-Wiedemann syndrome patients may benefit from early surgical intervention before age 12 months. Methods: The authors conducted a retrospective review of patients with Beckwith-Wiedemann syndrome who underwent tongue reduction from 2014 to 2019. The authors assessed primary outcomes of change in obstructive sleep apnea by polysomnography, respiratory support required, and feeding route before and after tongue reduction, and reviewed postoperative complications and the need for repeated tongue reduction. Results: Of the 36 patients included, the median age at tongue reduction was 9.5 months (interquartile range, 3.8 to 22.8 months). For those with severe obstructive sleep apnea, there was a significant reduction in the obstructive apnea hypopnea index from 30.9 ± 21.8 per hour to 10.0 ± 18.3 per hour (p =0.019) and improvement in nadir oxyhemoglobin saturation from 72 ± 10 percent to 83 ± 6 percent (p =0.008). Although there was no significant change in overall supplemental feeding tube or respiratory support, there were specific patients who experienced clinically meaningful improvement. Of note, these positive outcomes applied equally to those who underwent surgery at a younger age (<12 months). To date, only one patient required a repeated tongue reduction. Conclusion: Based on improved polysomnographic findings and rarity of surgical complications or repeated surgery, the authors’ data support the safety and efficacy of this early intervention when clinical indications are present and an experienced multidisciplinary team is available for consultation. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Reduction Glossectomy for Macroglossia in Beckwith-Wiedemann Syndrome: Is Post-Op Intubation Necessary?

“…Immediate postoperative extubation without need for reintubation was achieved in 100% of the cases, with no related complications reported. These results contrast with what is commonly seen in the literature, which often reports maintaining postoperative intubation for 24 to 120 hours (Celiker et al, 2004; Batra and Valecha, 2014; Cohen et al, 2020). Immediate postoperative extubation reduces the risks associated with intubation such as damage to laryngeal structures, edema, and aspiration (Divatia & Bhowmick, 2005), as well as the risks associated with extended hospital stays, such as infection, and the financial costs associated with such stays (Dasta et al, 2005).…”

“…The large tongue often leads to concern that intubation will be difficult at inception of the case and that postoperative intubation may be necessary at its conclusion (Shott, 2001; Batra & Valecha, 2014). Patients are often kept intubated for several days after surgery, including in patients not otherwise dependent on respiratory support for chronic respiratory concerns (Naujokat et al, 2019; Cohen et al, 2020). There is additional concern regarding intraoperative hemorrhage and need for transfusion due to the vascularity of the tongue and young age of the patients.…”

Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians

“…Past studies reported that the increased pressure of the tongue results in anterior open bite and a prognathic mandibular appearance secondary to an abnormally obtuse gonial angle and increased mandibular length, which can lead to negative consequences in social acceptance, projection of self-image, and psychological well-being [ 20 , 32 ]. Indeed, TRS represents the second most common surgical intervention after repair of omphalocele in patients with BWS, and it is currently recommended to correct the obstruction of the upper airways, sleep apnea, feeding difficulties or language delay, and to prevent musculoskeletal and dentoalveolar malformations [ 33 , 34 ]. Taking into account the invasiveness of TRS, its impact on breathing, language and quality of life, it is paramount to define whether BWS individuals really benefit from this procedure to prevent dentofacial deformities [ 18 , 35 , 36 ].…”

Anterior “W” Tongue Reduction for Macroglossia in Beckwith-Wiedemann Syndrome

“…Resections involving the tip and anterior tongue primarily target the length, marginal excisions target the width, and central resections address the thickness. Different craniofacial centers have reported using different tongue reduction techniques with distinct incision patterns and methods of cautery including keyhole, stellate, anterior wedge, and modified W-shaped patterns (Balaji, 2013; Chau et al, 2011; Cohen et al, 2020; Gardon et al, 2019; Heggie et al, 2013; Hettinger and Denny, 2011; Kacker et al, 2000; Kadouch et al, 2012; Mixter et al, 1993; Tomlinson et al, 2007; Wang et al, 2003; Yilmaz et al, 2009). There is currently no consensus as to which approach is the standard.…”

“…The most common manifestation is true macroglossia secondary to enlargement of the tongue musculature, which is reportedly seen in 80% to 99% of patients with BWS (Tomlinson et al, 2007; Kadouch et al, 2012; Maas et al, 2016b; Simmonds et al, 2018; Wang et al, 2020). Macroglossia has been reported to result in sequelae such as speech anomalies, feeding and swallowing problems, airway obstruction, malocclusion, oral incompetence, drooling, recurrent lingual trauma, cosmetic concerns, and psychosocial issues (Shipster et al, 2012; Van Lierde et al, 2012; Balaji, 2013; Alonso-Rodriguez et al, 2018; Cielo et al, 2019; Cohen et al, 2020). Surgical tongue reduction, also known as glossectomy, is the only available method of correction.…”