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Tongue reduction for macroglossia in Beckwith Wiedemann syndrome: review and application of new technique
Int. J. Oral Maxillofac. Surg. 2013; 42: 185–191 http://dx.doi.org/10.1016/j.ijom.2012.09.003, available online at http://www.sciencedirect.com
Clinical Paper Craniofacial Anomalies
Tongue reduction for macroglossia in Beckwith Wiedemann syndrome: review and application of new technique
A. A. C. Heggie1, N. J. Vujcich1, J. E. Portnof1, A. T. Morgan2 1
Department of Plastic and Maxillofacial Surgery, Royal Children’s Hospital, Melbourne, Australia; 2Royal Children’s Hospital, Melbourne, Australia
A. A. C. Heggie, N. J. Vujcich, J. E. Portnof, A. T. Morgan: Tongue reduction for macroglossia in Beckwith Wiedemann syndrome: review and application of new technique. Int. J. Oral Maxillofac. Surg. 2013; 42: 185–191. # 2012 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved. Abstract. Beckwith Wiedemann syndrome (BWS) is a rare, congenital overgrowth disorder that is characterized by macroglossia, anterior abdominal wall defects, visceromegaly, gigantism, and neonatal hypoglycaemia. Macroglossia may contribute to anterior open bite malocclusion with prognathism, speech articulation disturbances, drooling and the perception of intellectual disability. It was the purpose of this study to review a series of BWS patients who underwent surgical reduction of the tongue by a modified technique with respect to aesthetic and functional outcomes. Seven BWS patients, age 6 months to 21 months, had a ‘stellate/anterior wedge’ reduction with an anterior rotation flap and were followed up from 4 months to 9 years postoperatively. Assessment of aesthetics together with tongue morphology and mobility were recorded and a postoperative speech evaluation was performed. Minor contour deformities were present in two patients during function but all parents were satisfied with the results. The speech pathology assessment results indicated positive outcomes for speech, oral structure and function, and feeding for all children assessed. This modified technique allows for an adequate reduction of tongue volume with conservation of motor and sensory function as well as preservation of anatomical contour.
Beckwith Wiedemann syndrome (BWS) was first described by Beckwith in 1963 and Wiedemann in 19641 and is a rare, congenital overgrowth disorder that is encountered by the craniomaxillofacial surgeon. The syndrome is characterized 0901-5027/020185 + 07 $36.00/0
by macroglossia, anterior abdominal wall defects (omphalocele and umbilical hernia), visceromegaly, gigantism, and neonatal hypoglycaemia. Clinical features are variable and the diagnosis is made with a minimum of three major diagnostic find-
Keywords: Beckwith Wiedemann syndrome; macroglossia; glossectomy; speech. Accepted for publication 5 September 2012 Available online 4 October 2012
ings2,3 (Table 1). Historically, the triad of exomphalos, macroglossia and gigantism was described as ‘EMG syndrome’.1,4,5 BWS has a reported incidence of approximately 1 in 13,700 to 17,000 births3,6–8 with a prevalence of 0.07
# 2012 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.
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Table 1. Features associated with Beckwith Weidemann syndrome. Major features Anterior abdominal wall defects (omphalocele, exomphalos, umbilical hernia, cryptorchidism, diastasis recti) Macroglossia Macrosomia, gigantism (pre and/or post-natal growth >90th percentile) Additional features Hypogylcaemia Organomegaly/visceromegaly (nephromegaly, hepatomegaly, splenomegaly) Hemihypertrophy Adrenal cytomegaly Renal abnormalities Congenital heart defects Head and neck manifestations Cleft palate Maxillary hypoplasia Microcephaly Prominent occiput Flattened nasal dorsum Downward slanted palpebral fissures Ear abnormalities (anterior linear earlobe creases, posterior helical ear pits) Facial flame nevus (forehead)
per 1000 births.4,9 Males and females are affected with equal frequency.3 Genetically, most cases are sporadic, but an estimated 15% of BWS patients inherit the trait autosomal dominantly with incomplete penetrance.2 It has been linked to mutations of imprinted growth regulatory genes on chromosome 11p15.5.2–4 Affected individuals are at
an elevated risk of developing embryonal neoplasms (Wilms’ tumour, rhabdomyosarcoma, hepatoblastoma, pancreatic tumours and adrenocortical tumours).3 Crucial to the investigation and surveillance of every BWS case are serial abdominal ultrasound examinations. Lifelong cancer surveillance is advocated by some centres.3,5
Fig. 1. Resting position of tongue in BWS patient.
Macroglossia, or increased tongue size relative to the oral cavity, has been described in 80–99% of BWS cases,2,4,6,8 and has been classified as a congenital (true) macroglossia secondary to muscular enlargement due to hyperplasia of muscle fibres.10 Histological examination of the excision specimens showed no hypertrophy of muscle fibres, nor fatty infiltration or significant fibrosis. Nerve and muscle tissue is typically normal.5 The clinical presentation of macroglossia may include respiratory compromise, drooling, dysphagia, and poor cosmesis as the tongue may protrude from the mouth and rest between the lips for most of the time (Fig. 1). Macroglossia has been implicated in contributing to the development of malocclusion due to the resting pressure of the tongue against and between the teeth11 resulting in a dental class III, anterior open bite malocclusion with prognathism and proclination of the anterior teeth. The protrusion of the tongue in BWS patients may also lead to the public perception of mental retardation whereas these patients usually have normal mentation. Intellectual disability and delay have been described in only a minority of BWS patients.2,11 Families are naturally concerned that the appearance of a visually prominent, large tongue will invoke public prejudice2 with consequent psychological distress. Speech articulation may also be affected.9 Tongue movements and sounds are often affected by the macroglossia of BWS.12 Articulation errors for example, commonly occur for bilabial sounds (e.g., /p/, /b/) that are often produced as linguolabials. When producing the bilabial sound /p/ for example, the lips should come together. When produced as a linguolabial, /p/ will be distorted as the tongue protrudes through to make contact with the lips, and inhibits the lips from coming together to achieve the necessary air constriction and release normally required for a /p/. Other lingual sounds commonly affected include alveolar plosives (e.g., /t/, /d/) and alveolar fricatives (/ s/, /z/).12 Commonly alveolar sounds may be produced as linguadental sounds (e.g., the tongue tip protrudes through the teeth), or the tongue blade may make contact with the alveolar ridge instead of the tongue tip. Both of these scenarios use incorrect articulatory placement of the tongue, and will affect speech intelligibility. Surgical treatment of the upper airway and macroglossia associated with BWS has included tonsillectomy, adenoidectomy, tracheostomy, lingual frenectomy, and surgical tongue reduction. Removal
Tongue reduction in Beckwith Wiedemann syndrome macroglossia of hypertrophied tonsils and adenoidal tissue may improve cases of ‘pseudomacroglossia’ in which excess tissue in the pharynx is pushing the tongue forward.13 The indications for tongue reduction in true macroglossia are based on the degree to which the tongue protrudes and the potential for adverse affects on anterior tooth position, speech and mandibular growth. There has been no general agreement as to optimal timing of tongue reduction in infants. Regrowth of tongue tissue and the need for secondary debulking procedures has been reported.10,13,14 Kopriva and Classen recommended that the optimal time for tongue reduction procedures is after 6 months of age, coinciding with a reduction in the rate of tongue growth.14 The goal of a partial glossectomy in BWS patients is to reduce the tongue to as close to a normal size as possible with preservation of form and function.15 It has been suggested that the reduction procedure should result in a tongue that remains behind the lower dental arch at rest, yet can wet the lips on protrusion.9 Many designs of surgical tongue reduction have been advocated.1,4,6,8–10,15–21 These techniques can be grouped into anterior wedge excisions, tip amputations, horizontal filleting, dorsal flaps, central reductions, and combined anterior and central approaches.4 Keyhole resection has been cited as the most effective method to reduce the width and length of the tongue.15,22 Recently, in a review of 23 patients with BWS macroglossia, the anterior wedge resection technique was recommended. In all cases, except for one patient requiring further surgery, the desired position of the tongue sitting at rest posterior to the alveolus, was achieved.23 The purpose of this study was to review the authors’ series of BWS patients who have undergone surgical reduction of the tongue by a modified technique. The advantages and disadvantages of other techniques are also discussed. Materials and methods
Over a 10-year period (1998–2008), cases of macroglossia were identified where a tongue reduction had been performed. Surgical partial glossectomies were undertaken in 10 patients. Seven of these patients were diagnosed with BWS (2 males, 5 females) and underwent a ‘stellate/anterior wedge’ reduction with an anterior rotation flap (Fig. 2). Patients were surgically treated from the age of 6 months to 21 months (mean age 16.7 months). Follow-up ranged from 4 months to 9 years postoperatively.
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Fig. 2. Modified tongue reduction: ‘stellate/wedge’ resection with anterior flap.
Follow-up was arranged to assess patient and parent satisfaction with tongue function and cosmesis and a clinical assessment of tongue morphology and mobility was performed. All patients underwent postoperative speech evaluation by the same speech therapist. Each patient’s oral motor, speech and language, and swallowing proficiencies were assessed and all sessions were video recorded. An additional, independent assessment was made by a second speech therapist. Children up to 2 years of age underwent the Schedule for Oral Motor Assessment (SOMA).24 Oral motor testing for children up to 4 years included an assessment of the child’s oral movements in context. Children aged 4 years and older underwent a head and neck cranial nerve assessment. Swallowing was evaluated through the Clinical Assessment for Paediatric Neurogenic Dysphagia (CAPND) guidelines,25 which assesses a range of clinical swallowing characteristics. All children underwent speech assessment through sampling of language during play and conversation. Language development and production of sounds were assessed in this fashion. Children up to 3 years of age underwent the MacArthur Communicative Developmental Inventory. In this assessment tool, parents were provided with a questionnaire focusing on words and phrases that a child uses and understands. Children aged 2 years and above underwent the Goldman-Fristoe Test of Articulation 2,26 in which the
child’s production of sounds in various positions of a word is assessed. Modified surgical technique
Nasoendotracheal intubation was performed with an uncuffed tube. The surgical excision margins were marked (Fig. 3A) and 5 cc of 0.25% bupivicaine hydrochloride with 1:400,000 adrenaline was infiltrated into the surgical sites. Patients also received 0.15 mg/kg dexamethasone intravenously after induction. Tongue reduction surgery was performed using a ‘stellate/anterior wedge’ procedure with an anterior flap modification to debulk the tongue adequately (Fig. 3B) and to enable a satisfactory position within the oral cavity at rest. Incisions were initiated with a scalpel but excision of the tongue bulk was completed with diathermy to minimize blood loss. The pattern of excision aimed to reduce central tongue bulk and tongue length as well as to restore anterior contour (Fig. 3). The goal for glossectomy was to position the tongue to remain lingual to the mandibular incisor teeth at rest (Fig. 4). The wounds were closed firmly in layers with interrupted 4-0 vicryl sutures. To secure the airway in the initial postoperative period, a nasopharyngeal airway was inserted and sutured to the alar. A nasogastric tube was also inserted for nutritional support prior to the resumption of normal oral intake.
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Heggie et al. these sounds. Further, she used her tongue blade (rather than the tongue tip) to produce the palatoalveolar fricatives (/sh, ch, dz/). These sounds are not anticipated or expected for a child of her age (2;3) however, and hence there may also be a developmental aspect to her speech production difficulties with these particular phonemes. One further case, 2, also experienced speech sound difficulties. He produced alveolar sounds (/t/, /d/, /n/ , and /l/) in a linguadental manner. Similar to case 4 mentioned above, case 2 also used the tongue blade to produce the alveolar and palatoalveolar fricatives (/ sh, ch/). Overall however, speech sound production was within normal limits for the majority of (4/6) cases, and it is questionable whether the outcome in case 4 was related to the tongue or whether it was developmental in origin. As regards the speech pathology outcomes, feeding function was overwhelmingly positive across the group, with no oral preparation or oral phase difficulties noted for any of the six cases. Three patients had received chemotherapy to treat malignant abdominal tumours. Chemotherapy regimens used during early childhood could have caused sensorineural hearing deficits, affecting speech and language development. Discussion
Fig. 3. (A) Resection markings for partial glossectomy. (B) Resected tongue specimen and defect.
Patients were extubated immediately following surgery and transferred to the paediatric high-dependent care unit for monitoring. Results
All patients were evaluated postsurgically and determined to have a satisfactory cosmetic and functional result as assessed by parents and clinicians (Fig. 5). Full mobility was noted in all patients, but there were two cases of uneven contour of the lateral margins during active movement. One patient had a moderate contour depression on the right lateral margin noted during function (Fig. 6). There were no comments regarding altered or reduced
sensation. The speech pathology assessment results indicated positive outcomes for speech, oral structure and function, and feeding for all six children assessed in this cohort. As regards oral structure at rest, children had symmetrical and appropriate tone of the lips, jaw and tongue. The only area of perceived limitation in oral function was an inability to elevate the tongue to the alveolar ridge in three cases (1, 3 and 4 in Table 1). This oral motor impairment had no functional impact on speech production for cases 1 and 3. Case 4 had linguadental production of the alveolar fricative /s/. That is, the tongue tip was between the teeth rather than behind the alveolar ridge during the production of
The multiple techniques advocated for tongue reduction reveal that an ideal procedure has yet to emerge. This is understandable as the condition is relatively rare with a variation in the degree of macroglossia. Also, there remains no consensus on the timing of tongue reduction. The collection of follow-up objective data is also difficult. Many authors have debated the advantages and disadvantages of anterior wedge reduction versus central debulking procedures and a number of previously described techniques have been discussed as resulting in poor aesthetics due to the creation of a ‘pointy’ tongue tip.16,20,27,28 Hemi-enlargement of tongue morphology in a proportion of patients can also occur and there is difficulty in gaining height reduction in most described techniques.23 Ueyma et al. described an anterior tongue reduction surgery in a patient that resulted in paraesthesia of the middle tongue, a hollowed shape of the apex at the lingual dorsum, and a tendency for the tongue to become globular.28 In the authors’ view, most of the tongue reduction techniques described do not adequately address the issues of adequate
Tongue reduction in Beckwith Wiedemann syndrome macroglossia
Fig. 4. Tongue repair with rounded tip that sits behind lower anterior teeth at rest.
Fig. 5. Example of tongue morphology at follow-up assessment.
bulk reduction and the maintenance of an aesthetic morphology. In conjunction with an adequate tongue mass reduction in the transverse and anteroposterior planes, the authors’ technique includes additional lateral V excision elements to further reduce length and a flap to enable rotation of the remaining tip to give a rounded anterior contour that contributes to a more normal appearance. In general, the results of tongue reduction have been positive in the majority of studies. Both Wolford and Cottrell22 and
Ueyama et al.28 report that partial glossectomy quantitatively reduces the tongue mass without providing a marked disturbance in tongue mobility or speech. Others have report that speech delay and feeding problems were unchanged by surgical reduction.15 Ingervall and Schmoker29 reported that surgical reduction of the tongue did not have a major negative influence on oral motor ability or oral stereognosis (oral ability to recognize forms). In a retrospective study of 11 paediatric patients, who underwent surgical tongue
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reduction for treatment of symptomatic macroglossia in BWS it was found that many of the patients continued to have a disproportionate tongue bulk, a shortened tongue tip and commonly displayed speech sound errors.4 This study relied on a questionnaire and multiple operators and techniques were used. In a comprehensive study of oral motor and speech functions of 10 children with BWS good speech and oral motor outcomes were reported by Shipster et al.12 The authors used face-to-face administered standardized clinical assessments as used in this study with similar results. As outlined earlier in this paper, preoperatively the macroglossia directly affected children’s speech sound production, with example errors including linguolabialization of bilabial consonants, lingual blade production of alveolar and palatoalveolar consonants. These errors were ameliorated by the tongue reduction surgery, almost without exception.12 Similarly, oral motor difficulties were reported presurgically, but were also adequate following the tongue reduction surgery.12 A common finding between the present study and the work of Shipster et al. is the presence of persistent linguadental production of alveolar sounds post-surgery in some cases. This finding warrants further investigation in a longer-term follow-up study of sound development in these cases. Many of the children in the present study were assessed at an age where speech sound development is still progressing. Overall, the present data and the findings of Shipster et al.12 suggest that tongue reduction surgery provides positive speech, oral motor and feeding outcomes for children with BWS. The tip of the tongue has been identified as the most sensitive part for somatosensation and taste, and it was noted that most techniques did not maintain the integrity of the tongue tip.18,19 As illustrated by Davalbhakta and Lambery,10 traditional teaching of taste bud distribution involves tongue mapping. A predominance of sweet sensing taste buds is thought to be concentrated in the anterior region. Soursensing taste buds are distributed more laterally, and bitter-sensing buds are concentrated posteriorly. Taste buds sensing salty taste are distributed antero-laterally. It was subsequently reported that these previously accepted tongue maps are incorrect, and all four tastes are perceived on all loci with taste receptors.30 As BWS patients undergo tongue reduction at a young age, it is possible that they are unaware of change in taste perception.22 If there is a concentration of specific taste
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4.
5.
6.
7.
8.
9.
Fig. 6. Mild contour depression at right lateral margin of tongue at follow-up. 10.
modalities in the anterior tip region, the authors’ procedure would offer a theoretical advantage in preservation of tongue chemoreception in comparison to partial glossectomy techniques that remove a major wedge of tissue in the anterior, posterior, or lateral tongue. In planning the partial glossectomy, tongue anatomy must be taken into careful consideration. More tissue bulk is removed from the dorsal aspect of the tongue than the ventral to avoid the lingual nerves and arteries as well as the hypoglossal nerves.10,13,17,31,32 The lingual arteries course through the ventral tongue on either side of the mid-line septum. The lingual arteries give off dorsal branches to the root of the tongue, sublingual branches, and continue as ranine arteries. Intramuscular branches and the submucosal plexus provide terminal blood supply to the tongue. There is the potential for marked postoperative oedema that may threaten the airway and previously described techniques have advocated elective preoperatracheostomy or prolonged tive intubation postoperatively to protect the airway from post-surgical oedema.15 It has been the authors’ experience that postoperative oedema is limited to the anterior aspect of the oral cavity. As the posterior airway is unaffected, patients can be extubated at the conclusion of surgery with careful postoperative monitoring. This is not the case in patients with lymphatic malformations, where tongue surgery may result in prolonged and extensive oedema.
The long-term function and appearance of the tongue in the surgical management of macroglossia remains unclear due to the lack of long-term studies. The further development of objective criteria for preoperative and postoperative evaluation is recommended.
11.
12.
Funding
None. 13.
Competing interests
None. Ethical approval
14.
15.
Not required. Acknowledgement. Illustrations supplied by the Educational Resource Centre, Royal Children’s Hospital, Melbourne.
16.
17.
References 1. McManamny DS, Barnett JS. Macroglossia as a presentation of the Beckwith-Wiedemann syndrome. Plast Reconstr Surg 1985;75:170–5. 2. Elliott M, Bayly R, Cole T, Temple IK, Maher ER. Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clin Genet 1994;46:168–74. 3. Weksberg R, Shuman C, Smith AC. Beckwith-Wiedemann syndrome. Am J Med
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Genet C Semin Med Genet 2005;137C:12– 23. Tomlinson JK, Morse SA, Bernard SPL, Greensmith AL, Meara JG. Long-term outcomes of surgical tongue reduction in Beckwith-Wiedemann syndrome. Plast Reconstr Surg 2007;119:992–1002. Vogel JE, Mulliken JB, Kaban LB. Macroglossia: a review of the condition and a new classification. Plast Reconstr Surg 1986;78:715–23. Clauser L, Tieghi R, Polito J. Treatment of macroglossia in Beckwith-Wiedemann syndrome. J Craniofac Surg 2006;17:369–72. Kimura Y, Kamada Y, Kimura S. Anesthetic management of two cases of Beckwith-Wiedemann syndrome. J Anesth 2008;22:93–5. Rimell FL, Shapiro AM, Shoemaker DL, Kenna MA. Head and neck manifestations of Beckwith-Wiedemann syndrome. Otolaryngol Head Neck Surg 1995;113:262–5. Wang J, Goodger NM, Pogrel MA. The role of tongue reduction. Oral Surg Oral Med Pathol Oral Radiol Endod Oral 2003;95:269–73. Davalbhakta A, Lambery BG. Technique for uniform reduction of macroglossia. Br J Plast Surg 2000;53:294–7. Miyawaki S, Oya S, Noguchi H, TakanoYamamoto T. Long-term changes in dentoskeletal pattern in a case with Beckwith-Wiedemann syndrome following tongue reduction and orthodontic treatment. Angle Orthod 2000;70:326–31. Shipster C, Oliver B, Morgan A. Speech and oral motor skills in children with Beckwith Wiedemann Syndrome: pre- and post-tongue reduction surgery. Adv Speech-Language Pathol 2006;8:45–55. Bracka A. The blood supply of dorsal tongue flaps. Br J Plast Surg 1981;34:379–84. Kopriva D, Classen DA. Regrowth of tongue following reduction glossoplasty in the neonatal period for Beckwith-Wiedemann macroglossia. J Otolaryngol 1998;27:232–5. Morgan WE, Friedman EM, Duncan NO, Sulek M. Surgical management of macroglossia in children. Arch Otolaryngol Head Neck Surg 1996;122:326–9. Harada K, Enomoto S. A new method of tongue reduction for macroglossia. J Oral Maxillofac Surg 1995;53:91–2. Kacker A, Honrado C, Martin D, Ward R. Tongue reduction in Beckwith-Weidemann syndrome. Int J Pediatr Otorhinolaryngol 2000;53:1–7. Kruchinsky HV. A new tongue reduction method. J Oral Maxillofac Surg 1990;48:756–7. Kruchinsky HV. Once again about a new tongue reduction method. J Oral Maxillofac Surg 2006;64:1696–700. Mixter RC, Ewanowski SJ, Carson LV. Central tongue reduction for macroglossia. Plast Reconstr Surg 2003;91:1159–62. Patterson GT, Ramasastry SS, Davis JU. Macroglossia and ankyloglossia in Beck-
Tongue reduction in Beckwith Wiedemann syndrome macroglossia
22.
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24. 25.
with-Wiedemann syndrome. Oral Surg Oral Med Oral Pathol 1988;65:29–31. Wolford LM, Cottrell DA. Diagnosis of macroglossia and indications for reduction glossectomy. Am J Orthod Dentofacial Orthop 1996;110:170–7. Kadouch DJ, Maas SM, Dubois L, van der Horst CM. Surgical treatment of macroglossia in patients with Beckwith-Wiedemann syndrome: a 20-year experience and review of the literature. Int J Oral Maxillofac Surg 2012;41:300–8. Reilly S, Skuse D. Schedule for Oral Motor Assessment. Oxford, UK: Wiley; 1995. Morgan AT, Francis H, O’Mahney R. The use of pulse oximetry as a screening assessment for paediatric neurogenic dysphagia. Dev Neurorehabil 2008;11: 25–8.
26. Goldman R, Fristoe M. Goldman Fristoe Test of Articulation. second edition. Circle Pines, MN: AGS; 2000. 27. Dios PD, Feijoo JF, Ferreiro MC, Alvarez AJ. Functional consequences of partial glossectomy. J Oral Maxillofac Surg 1994;52:12. 28. Ueyama Y, Mano T, Nishiyama A, Tsukamoto G, Shintani S, Matsumura T. Effects of surgical reduction of the tongue. Br J Oral Maxillofac Surg 1997;37:490–5. 29. Ingervall B, Schmoker R. Effect of surgical reduction of the tongue on oral stereognosis, oral motor ability, and the rest position of the tongue and mandible. Am J Orthod Dentofacial Orthop 1990;97:58–65. 30. Linden RWA. Taste. Br Dent J 1993;175:243–53. 31. Lauretano AM, Li KK, Caradonna DS, Khosta RK, Fried MP. Anatomic location
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of the tongue base neurovascular bundle. Laryngoscope 1997;107:1057–9. 32. Rusu MC, Nimigean V, Podoleanu L, Ivas¸cu RV, Niculescu MC. Details of the intralingual topography and morphology of the lingual nerve. Int J Oral Maxillofac Surg 2008;37:835–9.
Address: Andrew A.C. Heggie Oral and Maxillofacial Surgery Melbourne Craniofacial Unit Department of Plastic and Maxillofacial Surgery Royal Children’s Hospital Melbourne Australia Tel.: +61 3 9 6544844 fax: +61 3 9 6541307 E-mail: [email protected]
Clinical Paper Craniofacial Anomalies
Tongue reduction for macroglossia in Beckwith Wiedemann syndrome: review and application of new technique
A. A. C. Heggie1, N. J. Vujcich1, J. E. Portnof1, A. T. Morgan2 1
Department of Plastic and Maxillofacial Surgery, Royal Children’s Hospital, Melbourne, Australia; 2Royal Children’s Hospital, Melbourne, Australia
A. A. C. Heggie, N. J. Vujcich, J. E. Portnof, A. T. Morgan: Tongue reduction for macroglossia in Beckwith Wiedemann syndrome: review and application of new technique. Int. J. Oral Maxillofac. Surg. 2013; 42: 185–191. # 2012 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved. Abstract. Beckwith Wiedemann syndrome (BWS) is a rare, congenital overgrowth disorder that is characterized by macroglossia, anterior abdominal wall defects, visceromegaly, gigantism, and neonatal hypoglycaemia. Macroglossia may contribute to anterior open bite malocclusion with prognathism, speech articulation disturbances, drooling and the perception of intellectual disability. It was the purpose of this study to review a series of BWS patients who underwent surgical reduction of the tongue by a modified technique with respect to aesthetic and functional outcomes. Seven BWS patients, age 6 months to 21 months, had a ‘stellate/anterior wedge’ reduction with an anterior rotation flap and were followed up from 4 months to 9 years postoperatively. Assessment of aesthetics together with tongue morphology and mobility were recorded and a postoperative speech evaluation was performed. Minor contour deformities were present in two patients during function but all parents were satisfied with the results. The speech pathology assessment results indicated positive outcomes for speech, oral structure and function, and feeding for all children assessed. This modified technique allows for an adequate reduction of tongue volume with conservation of motor and sensory function as well as preservation of anatomical contour.
Beckwith Wiedemann syndrome (BWS) was first described by Beckwith in 1963 and Wiedemann in 19641 and is a rare, congenital overgrowth disorder that is encountered by the craniomaxillofacial surgeon. The syndrome is characterized 0901-5027/020185 + 07 $36.00/0
by macroglossia, anterior abdominal wall defects (omphalocele and umbilical hernia), visceromegaly, gigantism, and neonatal hypoglycaemia. Clinical features are variable and the diagnosis is made with a minimum of three major diagnostic find-
Keywords: Beckwith Wiedemann syndrome; macroglossia; glossectomy; speech. Accepted for publication 5 September 2012 Available online 4 October 2012
ings2,3 (Table 1). Historically, the triad of exomphalos, macroglossia and gigantism was described as ‘EMG syndrome’.1,4,5 BWS has a reported incidence of approximately 1 in 13,700 to 17,000 births3,6–8 with a prevalence of 0.07
# 2012 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.
186
Heggie et al.
Table 1. Features associated with Beckwith Weidemann syndrome. Major features Anterior abdominal wall defects (omphalocele, exomphalos, umbilical hernia, cryptorchidism, diastasis recti) Macroglossia Macrosomia, gigantism (pre and/or post-natal growth >90th percentile) Additional features Hypogylcaemia Organomegaly/visceromegaly (nephromegaly, hepatomegaly, splenomegaly) Hemihypertrophy Adrenal cytomegaly Renal abnormalities Congenital heart defects Head and neck manifestations Cleft palate Maxillary hypoplasia Microcephaly Prominent occiput Flattened nasal dorsum Downward slanted palpebral fissures Ear abnormalities (anterior linear earlobe creases, posterior helical ear pits) Facial flame nevus (forehead)
per 1000 births.4,9 Males and females are affected with equal frequency.3 Genetically, most cases are sporadic, but an estimated 15% of BWS patients inherit the trait autosomal dominantly with incomplete penetrance.2 It has been linked to mutations of imprinted growth regulatory genes on chromosome 11p15.5.2–4 Affected individuals are at
an elevated risk of developing embryonal neoplasms (Wilms’ tumour, rhabdomyosarcoma, hepatoblastoma, pancreatic tumours and adrenocortical tumours).3 Crucial to the investigation and surveillance of every BWS case are serial abdominal ultrasound examinations. Lifelong cancer surveillance is advocated by some centres.3,5
Fig. 1. Resting position of tongue in BWS patient.
Macroglossia, or increased tongue size relative to the oral cavity, has been described in 80–99% of BWS cases,2,4,6,8 and has been classified as a congenital (true) macroglossia secondary to muscular enlargement due to hyperplasia of muscle fibres.10 Histological examination of the excision specimens showed no hypertrophy of muscle fibres, nor fatty infiltration or significant fibrosis. Nerve and muscle tissue is typically normal.5 The clinical presentation of macroglossia may include respiratory compromise, drooling, dysphagia, and poor cosmesis as the tongue may protrude from the mouth and rest between the lips for most of the time (Fig. 1). Macroglossia has been implicated in contributing to the development of malocclusion due to the resting pressure of the tongue against and between the teeth11 resulting in a dental class III, anterior open bite malocclusion with prognathism and proclination of the anterior teeth. The protrusion of the tongue in BWS patients may also lead to the public perception of mental retardation whereas these patients usually have normal mentation. Intellectual disability and delay have been described in only a minority of BWS patients.2,11 Families are naturally concerned that the appearance of a visually prominent, large tongue will invoke public prejudice2 with consequent psychological distress. Speech articulation may also be affected.9 Tongue movements and sounds are often affected by the macroglossia of BWS.12 Articulation errors for example, commonly occur for bilabial sounds (e.g., /p/, /b/) that are often produced as linguolabials. When producing the bilabial sound /p/ for example, the lips should come together. When produced as a linguolabial, /p/ will be distorted as the tongue protrudes through to make contact with the lips, and inhibits the lips from coming together to achieve the necessary air constriction and release normally required for a /p/. Other lingual sounds commonly affected include alveolar plosives (e.g., /t/, /d/) and alveolar fricatives (/ s/, /z/).12 Commonly alveolar sounds may be produced as linguadental sounds (e.g., the tongue tip protrudes through the teeth), or the tongue blade may make contact with the alveolar ridge instead of the tongue tip. Both of these scenarios use incorrect articulatory placement of the tongue, and will affect speech intelligibility. Surgical treatment of the upper airway and macroglossia associated with BWS has included tonsillectomy, adenoidectomy, tracheostomy, lingual frenectomy, and surgical tongue reduction. Removal
Tongue reduction in Beckwith Wiedemann syndrome macroglossia of hypertrophied tonsils and adenoidal tissue may improve cases of ‘pseudomacroglossia’ in which excess tissue in the pharynx is pushing the tongue forward.13 The indications for tongue reduction in true macroglossia are based on the degree to which the tongue protrudes and the potential for adverse affects on anterior tooth position, speech and mandibular growth. There has been no general agreement as to optimal timing of tongue reduction in infants. Regrowth of tongue tissue and the need for secondary debulking procedures has been reported.10,13,14 Kopriva and Classen recommended that the optimal time for tongue reduction procedures is after 6 months of age, coinciding with a reduction in the rate of tongue growth.14 The goal of a partial glossectomy in BWS patients is to reduce the tongue to as close to a normal size as possible with preservation of form and function.15 It has been suggested that the reduction procedure should result in a tongue that remains behind the lower dental arch at rest, yet can wet the lips on protrusion.9 Many designs of surgical tongue reduction have been advocated.1,4,6,8–10,15–21 These techniques can be grouped into anterior wedge excisions, tip amputations, horizontal filleting, dorsal flaps, central reductions, and combined anterior and central approaches.4 Keyhole resection has been cited as the most effective method to reduce the width and length of the tongue.15,22 Recently, in a review of 23 patients with BWS macroglossia, the anterior wedge resection technique was recommended. In all cases, except for one patient requiring further surgery, the desired position of the tongue sitting at rest posterior to the alveolus, was achieved.23 The purpose of this study was to review the authors’ series of BWS patients who have undergone surgical reduction of the tongue by a modified technique. The advantages and disadvantages of other techniques are also discussed. Materials and methods
Over a 10-year period (1998–2008), cases of macroglossia were identified where a tongue reduction had been performed. Surgical partial glossectomies were undertaken in 10 patients. Seven of these patients were diagnosed with BWS (2 males, 5 females) and underwent a ‘stellate/anterior wedge’ reduction with an anterior rotation flap (Fig. 2). Patients were surgically treated from the age of 6 months to 21 months (mean age 16.7 months). Follow-up ranged from 4 months to 9 years postoperatively.
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Fig. 2. Modified tongue reduction: ‘stellate/wedge’ resection with anterior flap.
Follow-up was arranged to assess patient and parent satisfaction with tongue function and cosmesis and a clinical assessment of tongue morphology and mobility was performed. All patients underwent postoperative speech evaluation by the same speech therapist. Each patient’s oral motor, speech and language, and swallowing proficiencies were assessed and all sessions were video recorded. An additional, independent assessment was made by a second speech therapist. Children up to 2 years of age underwent the Schedule for Oral Motor Assessment (SOMA).24 Oral motor testing for children up to 4 years included an assessment of the child’s oral movements in context. Children aged 4 years and older underwent a head and neck cranial nerve assessment. Swallowing was evaluated through the Clinical Assessment for Paediatric Neurogenic Dysphagia (CAPND) guidelines,25 which assesses a range of clinical swallowing characteristics. All children underwent speech assessment through sampling of language during play and conversation. Language development and production of sounds were assessed in this fashion. Children up to 3 years of age underwent the MacArthur Communicative Developmental Inventory. In this assessment tool, parents were provided with a questionnaire focusing on words and phrases that a child uses and understands. Children aged 2 years and above underwent the Goldman-Fristoe Test of Articulation 2,26 in which the
child’s production of sounds in various positions of a word is assessed. Modified surgical technique
Nasoendotracheal intubation was performed with an uncuffed tube. The surgical excision margins were marked (Fig. 3A) and 5 cc of 0.25% bupivicaine hydrochloride with 1:400,000 adrenaline was infiltrated into the surgical sites. Patients also received 0.15 mg/kg dexamethasone intravenously after induction. Tongue reduction surgery was performed using a ‘stellate/anterior wedge’ procedure with an anterior flap modification to debulk the tongue adequately (Fig. 3B) and to enable a satisfactory position within the oral cavity at rest. Incisions were initiated with a scalpel but excision of the tongue bulk was completed with diathermy to minimize blood loss. The pattern of excision aimed to reduce central tongue bulk and tongue length as well as to restore anterior contour (Fig. 3). The goal for glossectomy was to position the tongue to remain lingual to the mandibular incisor teeth at rest (Fig. 4). The wounds were closed firmly in layers with interrupted 4-0 vicryl sutures. To secure the airway in the initial postoperative period, a nasopharyngeal airway was inserted and sutured to the alar. A nasogastric tube was also inserted for nutritional support prior to the resumption of normal oral intake.
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Heggie et al. these sounds. Further, she used her tongue blade (rather than the tongue tip) to produce the palatoalveolar fricatives (/sh, ch, dz/). These sounds are not anticipated or expected for a child of her age (2;3) however, and hence there may also be a developmental aspect to her speech production difficulties with these particular phonemes. One further case, 2, also experienced speech sound difficulties. He produced alveolar sounds (/t/, /d/, /n/ , and /l/) in a linguadental manner. Similar to case 4 mentioned above, case 2 also used the tongue blade to produce the alveolar and palatoalveolar fricatives (/ sh, ch/). Overall however, speech sound production was within normal limits for the majority of (4/6) cases, and it is questionable whether the outcome in case 4 was related to the tongue or whether it was developmental in origin. As regards the speech pathology outcomes, feeding function was overwhelmingly positive across the group, with no oral preparation or oral phase difficulties noted for any of the six cases. Three patients had received chemotherapy to treat malignant abdominal tumours. Chemotherapy regimens used during early childhood could have caused sensorineural hearing deficits, affecting speech and language development. Discussion
Fig. 3. (A) Resection markings for partial glossectomy. (B) Resected tongue specimen and defect.
Patients were extubated immediately following surgery and transferred to the paediatric high-dependent care unit for monitoring. Results
All patients were evaluated postsurgically and determined to have a satisfactory cosmetic and functional result as assessed by parents and clinicians (Fig. 5). Full mobility was noted in all patients, but there were two cases of uneven contour of the lateral margins during active movement. One patient had a moderate contour depression on the right lateral margin noted during function (Fig. 6). There were no comments regarding altered or reduced
sensation. The speech pathology assessment results indicated positive outcomes for speech, oral structure and function, and feeding for all six children assessed in this cohort. As regards oral structure at rest, children had symmetrical and appropriate tone of the lips, jaw and tongue. The only area of perceived limitation in oral function was an inability to elevate the tongue to the alveolar ridge in three cases (1, 3 and 4 in Table 1). This oral motor impairment had no functional impact on speech production for cases 1 and 3. Case 4 had linguadental production of the alveolar fricative /s/. That is, the tongue tip was between the teeth rather than behind the alveolar ridge during the production of
The multiple techniques advocated for tongue reduction reveal that an ideal procedure has yet to emerge. This is understandable as the condition is relatively rare with a variation in the degree of macroglossia. Also, there remains no consensus on the timing of tongue reduction. The collection of follow-up objective data is also difficult. Many authors have debated the advantages and disadvantages of anterior wedge reduction versus central debulking procedures and a number of previously described techniques have been discussed as resulting in poor aesthetics due to the creation of a ‘pointy’ tongue tip.16,20,27,28 Hemi-enlargement of tongue morphology in a proportion of patients can also occur and there is difficulty in gaining height reduction in most described techniques.23 Ueyma et al. described an anterior tongue reduction surgery in a patient that resulted in paraesthesia of the middle tongue, a hollowed shape of the apex at the lingual dorsum, and a tendency for the tongue to become globular.28 In the authors’ view, most of the tongue reduction techniques described do not adequately address the issues of adequate
Tongue reduction in Beckwith Wiedemann syndrome macroglossia
Fig. 4. Tongue repair with rounded tip that sits behind lower anterior teeth at rest.
Fig. 5. Example of tongue morphology at follow-up assessment.
bulk reduction and the maintenance of an aesthetic morphology. In conjunction with an adequate tongue mass reduction in the transverse and anteroposterior planes, the authors’ technique includes additional lateral V excision elements to further reduce length and a flap to enable rotation of the remaining tip to give a rounded anterior contour that contributes to a more normal appearance. In general, the results of tongue reduction have been positive in the majority of studies. Both Wolford and Cottrell22 and
Ueyama et al.28 report that partial glossectomy quantitatively reduces the tongue mass without providing a marked disturbance in tongue mobility or speech. Others have report that speech delay and feeding problems were unchanged by surgical reduction.15 Ingervall and Schmoker29 reported that surgical reduction of the tongue did not have a major negative influence on oral motor ability or oral stereognosis (oral ability to recognize forms). In a retrospective study of 11 paediatric patients, who underwent surgical tongue
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reduction for treatment of symptomatic macroglossia in BWS it was found that many of the patients continued to have a disproportionate tongue bulk, a shortened tongue tip and commonly displayed speech sound errors.4 This study relied on a questionnaire and multiple operators and techniques were used. In a comprehensive study of oral motor and speech functions of 10 children with BWS good speech and oral motor outcomes were reported by Shipster et al.12 The authors used face-to-face administered standardized clinical assessments as used in this study with similar results. As outlined earlier in this paper, preoperatively the macroglossia directly affected children’s speech sound production, with example errors including linguolabialization of bilabial consonants, lingual blade production of alveolar and palatoalveolar consonants. These errors were ameliorated by the tongue reduction surgery, almost without exception.12 Similarly, oral motor difficulties were reported presurgically, but were also adequate following the tongue reduction surgery.12 A common finding between the present study and the work of Shipster et al. is the presence of persistent linguadental production of alveolar sounds post-surgery in some cases. This finding warrants further investigation in a longer-term follow-up study of sound development in these cases. Many of the children in the present study were assessed at an age where speech sound development is still progressing. Overall, the present data and the findings of Shipster et al.12 suggest that tongue reduction surgery provides positive speech, oral motor and feeding outcomes for children with BWS. The tip of the tongue has been identified as the most sensitive part for somatosensation and taste, and it was noted that most techniques did not maintain the integrity of the tongue tip.18,19 As illustrated by Davalbhakta and Lambery,10 traditional teaching of taste bud distribution involves tongue mapping. A predominance of sweet sensing taste buds is thought to be concentrated in the anterior region. Soursensing taste buds are distributed more laterally, and bitter-sensing buds are concentrated posteriorly. Taste buds sensing salty taste are distributed antero-laterally. It was subsequently reported that these previously accepted tongue maps are incorrect, and all four tastes are perceived on all loci with taste receptors.30 As BWS patients undergo tongue reduction at a young age, it is possible that they are unaware of change in taste perception.22 If there is a concentration of specific taste
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4.
5.
6.
7.
8.
9.
Fig. 6. Mild contour depression at right lateral margin of tongue at follow-up. 10.
modalities in the anterior tip region, the authors’ procedure would offer a theoretical advantage in preservation of tongue chemoreception in comparison to partial glossectomy techniques that remove a major wedge of tissue in the anterior, posterior, or lateral tongue. In planning the partial glossectomy, tongue anatomy must be taken into careful consideration. More tissue bulk is removed from the dorsal aspect of the tongue than the ventral to avoid the lingual nerves and arteries as well as the hypoglossal nerves.10,13,17,31,32 The lingual arteries course through the ventral tongue on either side of the mid-line septum. The lingual arteries give off dorsal branches to the root of the tongue, sublingual branches, and continue as ranine arteries. Intramuscular branches and the submucosal plexus provide terminal blood supply to the tongue. There is the potential for marked postoperative oedema that may threaten the airway and previously described techniques have advocated elective preoperatracheostomy or prolonged tive intubation postoperatively to protect the airway from post-surgical oedema.15 It has been the authors’ experience that postoperative oedema is limited to the anterior aspect of the oral cavity. As the posterior airway is unaffected, patients can be extubated at the conclusion of surgery with careful postoperative monitoring. This is not the case in patients with lymphatic malformations, where tongue surgery may result in prolonged and extensive oedema.
The long-term function and appearance of the tongue in the surgical management of macroglossia remains unclear due to the lack of long-term studies. The further development of objective criteria for preoperative and postoperative evaluation is recommended.
11.
12.
Funding
None. 13.
Competing interests
None. Ethical approval
14.
15.
Not required. Acknowledgement. Illustrations supplied by the Educational Resource Centre, Royal Children’s Hospital, Melbourne.
16.
17.
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26. Goldman R, Fristoe M. Goldman Fristoe Test of Articulation. second edition. Circle Pines, MN: AGS; 2000. 27. Dios PD, Feijoo JF, Ferreiro MC, Alvarez AJ. Functional consequences of partial glossectomy. J Oral Maxillofac Surg 1994;52:12. 28. Ueyama Y, Mano T, Nishiyama A, Tsukamoto G, Shintani S, Matsumura T. Effects of surgical reduction of the tongue. Br J Oral Maxillofac Surg 1997;37:490–5. 29. Ingervall B, Schmoker R. Effect of surgical reduction of the tongue on oral stereognosis, oral motor ability, and the rest position of the tongue and mandible. Am J Orthod Dentofacial Orthop 1990;97:58–65. 30. Linden RWA. Taste. Br Dent J 1993;175:243–53. 31. Lauretano AM, Li KK, Caradonna DS, Khosta RK, Fried MP. Anatomic location
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Address: Andrew A.C. Heggie Oral and Maxillofacial Surgery Melbourne Craniofacial Unit Department of Plastic and Maxillofacial Surgery Royal Children’s Hospital Melbourne Australia Tel.: +61 3 9 6544844 fax: +61 3 9 6541307 E-mail: [email protected]