Beckwith-Wiedemann 증후군 3개월 여아에서 시행된 설절제술
Reduction Glossectomy in a 3-Month-Old Female Infant With Beckwith-Wiedemann Syndrome
Article information
Trans Abstract
Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth disorder presenting with various clinical manifestations, including macroglossia, visceromegaly, gigantism, neonatal hypoglycemia, and anterior abdominal wall defects. Most patients with BWS suffer from swallowing and respiratory difficulty due to macroglossia, which requires surgical intervention. However, the tongue has a complex neuromuscular anatomy which is closely related to swallowing, phonation, and respiration. Therefore, care should be taken when performing reduction glossectomy for BWS patients to minimize complication after surgery. This case report describes a successful surgical intervention for macroglossia in a 3-month-old female infant diagnosed with BWS, who presented respiratory and swallowing difficulty. The keyhole shape glossectomy was performed and the patient was orally fed without respiratory difficulty 3 weeks following the surgery.
Introduction
Macroglossia in infant leads to airway obstruction and swallowing problems. It impedes the development of surrounding structures, resulting in a malocclusion, swallowing and phonation difficulty. Macroglossia may manifest as a clinical feature in various disorders, among which Beckwith-Wiedemann syndrome (BWS) stands out as a quintessential [1].
BWS is a rare congenital overgrowth disorder, and macroglossia occurs in 80%-99% of patients at birth [2]. Clinical presentations of BWS are various, but the main characteristics include macroglossia, visceromegaly, gigantism, neonatal hypoglycemia, and anterior abdominal wall defects [3,4].
The severity of symptoms varies among patients with BWS, and severe cases with airway compromise require surgical treatment [5]. Reduction glossectomy is generally recommended method for severe symptomatic BWS. Postoperative bleeding, motor, sensation, and taste dysfunction are the common complications [1,5].
Pediatric patients with BWS require careful consideration for surgery, necessitating a thorough understanding of the complex anatomy surrounding the tongue [6]. The surgeon should conduct functional surgery to ensure favorable speech, dietary, and respiration with preservation of neuro-motorsensory structures.
As understanding of the anatomy of the tongue has advanced, various surgical techniques have been introduced to preserve the functionality of the tongue while performing resection [1,7]. This evolution in surgical methodology reflects a nuanced appreciation of the tongue’s complex structural and functional characteristics, vital for speech, swallowing, and taste. These innovations aim to achieve a balance between effective disease management and the preservation of quality of life, underscoring the importance of anatomical knowledge in designing interventions that maintain the integral functions of the tongue. By prioritizing the retention of these capabilities, surgeons can ensure more favorable outcomes for patients, both in terms of disease control and functional preservation.
This report describes the case of a 3-month-old patient with BWS who was successfully treated through surgical intervention. The aim is to contribute to the growing body of evidence in favor of proper reduction glossectomy for BWS.
Case
This case report was approved by the Institutional Review Board of authors’ hospital (approval No. 2024-03-092).
A 3-month-old female patient was born prematurely at 32 weeks and 2 days, weighing 2.64 kg. There were no abnormal findings on prenatal ultrasound, and no significant family history. She had feeding difficulty and respiratory distress, leading to transfer to our clinic.
On examination, the patient showed signs of macroglossia (Fig. 1A and B) and hypoglycemia, raising suspicion of BWS. So genetic testing and additional investigations were conducted. The result of the genetic testing is expected to take 4 months.
Clinical images of the patient. A and B: Clinical photos of the patient before and after surgery. Enlargement of tongue, particularly hypertrophy in anterior two-thirds. The patients is in an intubated status for airway protection. C: Sagittal image of CT scan also showed anterior two thirds hypertrophy of tongue and patent posterior airway. D and E: On postoperative fourth day, wound seemed intact. F: On postoperative 3-month, tongue sized successfully reduced compared to preoperative one.
A modified barium swallowing test revealed diminished sustained sucking, incomplete sucking-swallowing coordination in the oral stage and nasal reflux. In the pharyngeal stage, there were signs of delayed swallowing reflex, reduced laryngeal closure, penetration, and suspected gastroesophageal reflux. Therefore, it is recommended that the patient continue with alternative feeding methods and, if possible, begin gradual direct therapy.
Additional tests including abdominal ultrasound were conducted to check clinical features associated with BWS, such as embryonal tumors, visceromegaly, kidney abnormalities, and umbilical hernia. As a result, no other abnormal findings were observed.
During intensive care unit care, despite supporting high-flow oxygen, the infant exhibited intermittent desaturation events and increased respiratory effort. Nasotracheal intubation was performed for airway maintenance, and we planned airway evaluation and tongue volume reduction surgery under general anesthesia. Sagittal image of CT scan demonstrated anterior two thirds hypertrophy of tongue and patent posterior airway (Fig. 1C).
Regarding the tongue, a keyhole design along the midline and an anterior wedge shape were created (Fig. 2). Tongue volume reduction was done using monopolar device, followed by vicryl suture, and lingual frenulotomy was performed concurrently to mobilize the anterior tongue. During the surgery, careful attention was given to avoid damaging the lingual artery by palpating its pulse and proceeding cautiously.
Reduction glossectomy procedure. A: An anterior wedge and keyhole shape along the midline were designed. B and C: Tongue resection along the marked line. D: Approximation of remnant tongue and closure with vicryl suture.
On the fourth postoperative day, the wound remained intact, and tongue volume reduction seemed successful (Fig. 1D and E).
On the seventh postoperative day, planned extubation was done, and with steroid supplement, the vital signs remained stable on room air, leading to the transfer to a general ward and subsequent discharge.
After discharge, a postoperative 21-day outpatient clinic follow-up showed the successful reduction of tongue volume with oral feeding. At the 3-month follow-up, the patient showed smooth oral sucking, and at the ninth-month follow-up, oral feeding proceeded smoothly, and the patient showed steady weight gain (Fig. 1F).
The final genetic test results revealed a mutation in the chromosome 11p15.5 region, confirming the manifestation of BWS phenotype.
Discussion
BWS is clinical syndrome with multifaceted aspects of this overgrowth disorder, which includes a broad spectrum of clinical manifestations such as macroglossia, hemihyperplasia, abdominal wall defects, and an increased risk for embryonal tumors. Genetic testing plays a critical role in diagnosis, given the genetic heterogeneity of BWS, involving alterations in the imprinted gene cluster on chromosome 11p15.5 [8]. Personalized management strategies based on symptoms and clinical findings is crucial including reduction glossectomy and surveillance for tumor development [4,9].
In this case, macroglossia with airway obstruction and feeding difficulty was the only clinical presentation of BWS, and the management of macroglossia required multidisciplinary approaches including pediatrics, anesthesiology, and otorhinolaryngology. Many patients with BWS received surgery because of articulation discomfort, airway compromise, cometic problem and feeding difficulty. Reduction glossectomy for macroglossia have demonstrated significant benefits in alleviating functional impairments and enhancing the quality of life. The function-preserving reduction glossectomy is cornerstone for successful outcome, as it addresses critical issues such as feeding and respiratory difficulties without compromising tongue functionality. Before the surgery, surgeons should understand individual patient characteristics of tongue shape and clinical presentations, and neuromuscular anatomy to avoid injury [10]. There are several important structures, such as neurovascular bundles including the lingual nerve, lingual artery, and hypoglossal nerve, located at the inferolateral side of the ventral tongue. Additionally, it is crucial to minimize injuries to both the extrinsic and intrinsic tongue muscles. Excessive reduction of the posterior tongue can result in postoperative airway compromise, while reduction of the anterior tongue can lead to phonation disorders.
Various surgical techniques have been introduced for BWS patients, and surgeon decides surgical methods tailored to individual patients [1]. Anterior tongue wedge resection is effective in reducing the anterior portion of the tongue but has the disadvantage of potentially impairing articulation by damaging the mobile tongue. Central tongue resection involves excising only the central part of the tongue, which may not adequately reduce the volume of the anterior or posterior portions of the tongue. Marginal excision targets the peripheral parts of the tongue, but it poses a risk of damaging the neurovascular bundles at the edges of the tongue. Circumferential resection involves removing a thin, broad layer around the circumference of the tongue, which is effective for volume reduction but requires a longer healing period for the surgical wounds and has risk of taste discomfort.
In this case, we found the patients had severe anterior two-third tongue hypertrophy with short mobile tongue and lingual frenulum. Therefore, we modified the keyhole surgical technique to minimize complications while maximally reducing the volume of the anterior portion of the tongue and enhancing its mobility [7,11,12]. This method could preserve mobile tongue and inferolateral neurovascular strictures. After the surgery, patients achieved tolerable diet without respiratory difficulty within 3 weeks.
In conclusion, the treatment of macroglossia in a 3-month-old female infant diagnosed with BWS highlights the significance of a function-preserving reduction glossectomy. This method markedly enhances the quality of life by resolving essential concerns, including feeding and respiratory challenges.
Notes
Acknowledgments
None
Author Contribution
Conceptualization: all authros. Data curation: all authros. Writing—original draft: Gangmi Kim, Younghac Kim, Nayeon Choi. Writing—review & editing: all authros.