Abordagem interdisciplinar no tratamento da macroglossia na síndrome de Beckwith-Wiedemann: relato de caso / Interdisciplinary approach in the treatment of macroglossia in Beckwith-Wiedemann syndrome: case report

RESUMO O objetivo deste estudo foi relatar a abordagem interdisciplinar no manejo da macroglossia em um caso de paciente com síndrome de Beckwith-Wiedemann, no período de dez anos. O acompanhamento iniciou pela equipe de Cirurgia Bucomaxilofacial, seguido da Fonoaudiologia, em função de dificuldades alimentares. Após avaliação clínica e instrumental, aos 8 meses de idade, iniciou-se a intervenção fonoaudiológica com foco na disfagia orofaríngea e na terapia miofuncional orofacial. Foi verificado, com 1 ano e 11 meses, ausência de sinais de alteração de deglutição em fase faríngea e melhora na postura de lábios e língua. Aos 3 anos, foram iniciados estímulos para retirada dos hábitos orais e o treino da função mastigatória. O tratamento ortodôntico para correção de mordida aberta anterior e mordida cruzada posterior unilateral iniciou-se aos 6 anos. Aos 7 anos e 5 meses de idade, constatou-se estabilidade do modo respiratório nasal e adequação da postura de repouso de lábios e língua. Aos 9 anos, em função de recidiva das alterações oclusais, optou-se pela redução cirúrgica da língua seguida de terapia miofuncional orofacial, retomada aos 9 anos e 3 meses. O resultado foi a correção da postura da língua na deglutição e a adequação da fala. A associação dos tratamentos, envolvendo Fonoaudiologia, Ortodontia e Cirurgia Bucomaxilofacial foi considerada efetiva no manejo da macroglossia, resultando na adequação e equilíbrio das funções orofaciais.

ABSTRACT This study aims to report the interdisciplinary management of macroglossia in a Beckwith-Wiedemann syndrome patient during ten years. Clinical follow-up started by the Oral and Maxillofacial Surgery team, followed by Speech Therapy due to feeding difficulties. After clinical and instrumental evaluation, at 8 months old, the speech therapy intervention was indicated, focusing on oropharyngeal dysphagia and orofacial myofunctional therapy. At 1 year and 11 months, no signs of swallowing alteration in the pharyngeal phase and improvement in the posture of the lips and tongue were found. At the age of 3, stimulation to remove oral habits and train masticatory function were initiated. Orthodontic treatment to correct anterior open bite and unilateral posterior crossbite started at age 6. At 7 years and 5 months, there was stability in the nasal breathing mode and adequacy of resting posture of lips and tongue. At the age of 9, due to relapse of the occlusal alterations, surgical reduction of the tongue was indicated, followed by orofacial myofunctional therapy, restarted at the age of 9 years and 3 months. The result was the correction of the posture of the tongue during swallowing and speech adequacy. The association of treatments involving Speech Therapy, Orthodontics and Oral and Maxillofacial Surgery was considered effective in the management of the macroglossia. It resulted in the adequacy and equilibrium of orofacial functions.

Recurrent macroglossia requiring tracheostomy after haemorrhagic basal ganglia stroke.

A 50-year-old African American woman with hypertension, congestive heart failure, chronic kidney disease and prior cerebral vascular accident was transferred from an outside hospital after being found unresponsive and subsequently intubated for severe orolingual swelling. Imaging showed left thalamic haemorrhagic stroke, and the lingual swelling was clinically concerning for angio-oedema, with which a lingual biopsy was consistent. Work-up was negative for hereditary or acquired angio-oedema, and imaging was negative for structural causes. Of note, the patient had an episode of severe orolingual swelling 3 months prior to this presentation after suffering left thalamic haemorrhage which self-resolved after approximately 2 months. In both episodes lingual swelling predated receipt of tissue plasminogen activator and she had discontinued ACE inhibitor therapy since her first episode of tongue swelling. Despite medical and supportive management, tongue swelling progressed during admission and the decision was made to allow the patient's tongue swelling to self-resolve.

Systemic Amyloidosis Caused by Monoclonal Immunoglobulins: Soft Tissue and Vascular Involvement.

Clinical features of soft tissue amyloid light-chain (AL) amyloidosis include macroglossia, arthropathy, muscle pseudohypertrophy, skin plaques, and carpal tunnel syndrome. Vascular manifestations of AL amyloid include periorbital ecchymosis, jaw or limb claudication, and even myocardial infarction caused by occlusion of small vessel coronary arteries. Some of these features, such as macroglossia, periorbital ecchymosis, and the so-called shoulder-pad sign, are pathognomonic for AL amyloidosis. These findings may be the initial presenting features of the disease, and the recognition of these red flag symptoms is very important for the diagnosis and early intervention on the underlying plasma cell disease.

Lingual compression for acute macroglossia in a COVID-19 positive patient.

We describe a 40-year-old woman with severe, persistent macroglossia following prone positioning as part of treatment for COVID-19. We used the treatment method of lingual compression with satisfactory results.

Spontaneous and Dramatic Improvements in Open Bite Deformity Secondary to Large Maxillofacial Venous Malformation With Macroglossia After Sclerotherapy and Laser Therapy.

BACKGROUND: Large maxillofacial venous malformation (VM) lesions can affect the craniofacial skeleton, causing occlusal and craniofacial deformity. Few studies have discussed the management of these skeletal disorders. It is unclear whether orthodontic treatment and orthognathic surgery are necessary after such a VM lesion has been significantly reduced. METHODS: A 13-year-old boy with a large, extensive maxillofacial VM lesion, severe facial asymmetry, macroglossia, and lower lip hypertrophy visited our department in 2010. He received more than 100 sclerotherapy treatments and 20 laser treatments in the past 8 years. RESULTS: The patient's cosmetic disfigurement greatly improved, and the VM lesion diminished by more than 80%. Changes in the bite and craniofacial skeleton progressed from "normal" to "open bite with skeletal deformity" and finally to "spontaneously close to normal". CONCLUSIONS: During the progression of VM, removal of pathogenic factors can inhibit the aggravation of open bite deformity and promote the spontaneous improvement, thereby circumventing the need for complicated osteotomy, orthodontic intervention and/or orthognathic surgery.

An Unusual Cause of CPAP Intolerance.

None: Continuous positive airway pressure (CPAP) is a first-line treatment for obstructive sleep apnea (OSA). However, the adherence to CPAP can be difficult for patients due to several reasons. In this case report we describe a patient with severe OSA who initially was treated successfully with CPAP, but after a few months adherence problems developed because of macroglossia. This was caused by amyloidosis due to multiple myeloma. During treatment with chemotherapy and stem cell transplantation, the size of the patient's tongue decreased and he could successfully use his CPAP device again.

Ptosis and macroglossia in a woman with systemic light-chain amyloidosis.

BACKGROUND: Amyloidosis is a rare and variable disease, characterized by extracellular deposits of amyloid protein in different tissues and organs. Patients may present with a range of symptoms, depending on the extent of involvement. Rapid, accurate diagnosis is still challenging in clinical practice. CASE REPORT: A 72-y-old woman presented with a 1-y history of droopy upper left eyelid, resulting in decreased visual acuity, and progressive tongue swelling, resulting in dysarthria, dysphagia, and sleep apnea. Physical examination revealed puffy eyes, moderate swelling up to 1 cm of the upper left eyelid, swollen submental region, and protrusion of the tongue, causing an inability to close the mouth. An abnormal serum free light chain ratio implied the presence of monoclonal gammopathies, and Congo red staining revealed amyloid deposits in specimens from both the tongue and left eyelid. Therefore, a diagnosis of systemic light-chain (AL) amyloidosis was confirmed. The patient then received oral melphalan therapy and surgical intervention for macroglossia. Clinical symptoms including dysarthria, dysphagia, and sleep apnea were under control at 6-month follow-up. CONCLUSIONS: We report an uncommon case presenting initially with both ptosis and macroglossia, for which a final diagnosis of systemic AL amyloidosis was made. Detailed history and laboratory investigation must be implemented on suspicion of amyloidosis, because early recognition of amyloid-associated diseases and appropriate treatment can improve clinical outcomes.

Neonatal Macroglossia: Demographics, Cost of Care, and Associated Comorbidities.

OBJECTIVES: To examine the birth prevalence of congenital macroglossia and identify demographic variables and comorbidities that may influence length of stay and cost of care. STUDY DESIGN: Retrospective cross-sectional study using the Kids' Inpatient Database 2003, 2006, 2009, and 2012. METHODS: Demographics were analyzed. Linear regression modeling and multivariate analyses were performed. RESULTS: The birth prevalence of congenital macroglossia was 4.63/100 000 births. Patients were classified as isolated (n = 349, 48.1%) or syndromic (n = 377, 51.9%). A higher incidence of isolated macroglossia was seen in females (odds ratio, OR [95% confidence interval, 95% CI]: 1.93 [1.45-2.56] and African Americans (2.02 [1.41-2.88]). Length of stay was higher for syndromic patients than for nonsyndromic patients (22.6 days [18.6-26.6] vs 7.93 days [5.95-9.90], as were inpatient costs ($3619USD [$27 628-$44 754] vs $10 168USD [$6272-$14 064]. After accounting for gender, race, location, and socioeconomic status, the presence of macroglossia alone increased length of stay by 4.07 days (0.42-7.72 days) in nonsyndromic patients and 12.02 days (3.63-20.4 days) in syndromic patients. The cost of care increased by $6207USD ($576-$11 838) among nonsyndromic newborns and $17 205USD ($374-34 035) among syndromic patients. CONCLUSION: The birth prevalence of congenital isolated macroglossia appears to vary by sex and race. Prolonged length of stay and increased costs are associated with both isolated macroglossia and syndromic macroglossia, even after controlling for other syndromic comorbidities.

Craniofacial disorders.

The complexity of the craniofacial patient mandates the cooperation of a multidisciplinary team that can systematically evaluate each individual and ensure that a protocol-driven pathway is undertaken for the best patient care. Oral and maxillofacial surgeons contribute to surgical care in this setting with specific knowledge of growth and development of the face. This enables optimum timing for early skeletal correction where appropriate, and definitive surgery following the cessation of growth to maximize function and aesthetics. This chapter will describe the major principles in managing patients with specific craniofacial anomalies and provide examples of the outcomes possible.

Severe macroglossia after posterior fossa and craniofacial surgery in children.

Massive swelling of the tongue can occur after posterior fossa and craniofacial surgery. Several hypotheses have been proposed to explain the occurrence of such severe postoperative macroglossia, but this phenomenon is still poorly understood. Severe postoperative macroglossia can be a life-threatening condition due to upper airway obstruction. Three cases of severe postoperative macroglossia that occurred after cervical spine, craniofacial, and posterior fossa surgical procedures are reported here. These cases required specialized maxillofacial management and a prolonged stay in the intensive care unit. Causal factors involved in this condition are reported, in order to highlight appropriate prevention and treatment options adapted to the management of paediatric patients. An overview of the current literature on severe postoperative macroglossia in paediatric populations is also provided.

Management of persistent lingual angioedema: a team approach.

A 70-year-old African American man suffered anoxic encephalopathy following a choking episode. He had a history of hypertension, which was being treated with lisinopril, an angiotensin-converting enzyme inhibitor (ACEI). Soon after the patient's admission to an intensive care unit, his tongue began to swell until it reached more than twice its normal size and extended almost 2 inches outside his mouth. When the swelling did not diminish after 2 weeks, a diagnosis of ACEI-induced angioedema was determined. ACEIs have the potential to cause angioedema through an uncommon effect on the angiotensin-renin vascular control system. Lingual angioedema can be life-threatening due to the possibility of severe compromise of the airway and thus may require immediate intubation. After the ACEI is discontinued, swelling may remain if there is continued pressure from the maxillary and mandibular incisors on the dorsal and lingual surfaces of the tongue. In this case, the patient was comatose and unable to voluntarily move the tongue; therefore, relief from pressure was easily accomplished, and the edema was eventually diminished through a team effort in which a dentist instructed the nursing personnel on proper placement of Molt mouth props.

Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome.

UNLABELLED: Beckwith-Wiedemann syndrome (BWS) is the most common (epi)genetic overgrowth-cancer predisposition disorder. Given the absence of consensual recommendations or international guidelines, the Scientific Committee of the Italian BWS Association (www.aibws.org) proposed these recommendations for the diagnosis, molecular testing, clinical management, follow-up and tumor surveillance of patients with BWS. The recommendations are intended to allow a timely and appropriate diagnosis of the disorder, to assist patients and their families, to provide clinicians and caregivers optimal strategies for an adequate and satisfactory care, aiming also at standardizing clinical practice as a national uniform approach. They also highlight the direction of future research studies in this setting. With recent advances in understanding the disease (epi)genetic mechanisms and in describing large cohorts of BWS patients, the natural history of the disease will be dissected. In the era of personalized medicine, the emergence of specific (epi)genotype-phenotype correlations in BWS will likely lead to differentiated follow-up approaches for the molecular subgroups, to the development of novel tools to evaluate the likelihood of cancer development and to the refinement and optimization of current tumor screening strategies. CONCLUSIONS: In this article, we provide the first comprehensive recommendations on the complex management of patients with Beckwith-Wiedemann syndrome.

Successful Treatment of Macroglossia Due to Lymphatic Malformation With Sirolimus.

OBJECTIVE: To evaluate the effectiveness and safety of sirolimus therapy in a child with macroglossia due to lymphatic malformation. METHODS: Sirolimus treatment was applied to the patient with an initial dosing of 0.8 mg/m2 per dose, administered orally, twice daily at approximately 12-hour intervals. RESULTS: After 9 months of sirolimus therapy, there was a nearly complete resolution of lymphatic malformation. The last evaluation was performed 6 months after withdrawal of treatment, and the lesion had almost completely resolved. CONCLUSION: This article presents a novel approach to the treatment of lymphatic malformation of the tongue using sirolimus, which appears to be safe and effective for the management of complex cases.

Lymphangiomatous macroglossia associated with extensive cervicomediastinal cystic hygromas.

Children with lymphangiomatous macroglossia often have difficulty eating and talking, and their airways may be compromised because of bleeding and infection, especially when extensive cervicomediastinal cystic hygromas are present. We report a case of lymphangiomatous macroglossia associated with extensive cystic hygromas in the cervicomediastinal region. The 3-year-old girl was treated with anterior wedge reduction of the tongue, needle aspiration of the cervicomediastinal cystic hygromas, and systemic steroids and antibiotics. The extensive cystic cervicomediastinal hygromas spontaneously regressed, and further surgery was not needed until 4 years later. Surprisingly, subtotal or partial lymphatic malformation removal improved the complicated lymphatic malformation.

Congenital macroglossia: surgical and orthodontic management.

OBJECTIVES: A case of congenital macroglossia is reported. The most important sign of macroglossia is tongue protrusion through the lips. Tongue protrusion might influence skeletal growth and can cause anterior open bite, proclination of upper and lower incisors and development of diastemas. MATERIALS AND METHODS: A 4 year-old female patient was diagnosed with congenital macroglossia. Parents referred an abnormal tongue dimension since birth and the development of a progressive anterior open bite. The treatment of macroglossia included tongue reduction by partial glossectomy. She was seen regularly and at the age of eight years old a lingual frenectomy was performed and an orthodontic treatment was planned. RESULTS: At the end of the orthodontic treatment a Class I occlusion was obtained with correct overbite and overjet values. CONCLUSIONS: Early interception of macroglossia and surgical reduction in combination with orthodontic treatment can be seen as preventive measures to avoid the tongue influence on the development of malocclusions.

A reminder for a very rare entity: massive tongue swelling after posterior fossa surgery.

OBJECTIVE: The purpose of this study is to report a case of presumably neurogenic macroglossia that occurred after surgical trapping of a vertebral artery (VA)-posteroinferior cerebellar artery aneurysm, and to analyze its potential pathogenesis. CLINICAL PRESENTATION: A 53-year-old woman who suffered from headaches and intermittent loss of consciousness but without evidence of subarachnoid hemorrhage was admitted. Magnetic resonance imaging and angiography showed an irregular aneurysm in the fourth segment of a left dominant VA. INTERVENTION: Surgical treatment was indicated after discussion with the neuroradiology team. During surgery, in the prone position the aneurysm ruptured. The patient became hemodynamically instable. On the first postoperative day, macroglossia appeared and remained for 3 weeks until spontaneous regression. CONCLUSION: Macroglossia is a rare complication following neurosurgical procedures with very few cases reported so far. It has been attributed to the sitting position and venous flow congestion. We illustrate a case of macroglossia, which occurred following surgery in the prone position. Its etiology remains speculative, but a neurogenic explanation seems most plausible.

Bipolar radiofrequency-induced interstitial thermoablation for oral cavity vascular malformations: Preliminary results in a series of 5 children.

We report our assessment of the effectiveness of bipolar radiofrequency-induced interstitial thermoablation (BRIT) for the treatment of certain oral cavity vascular malformations in 5 children. Two of these patients had lymphangiomatous macroglossia (LM), 1 had lymphangioma circumscriptum (LC), and 2 had a venous malformation (VM). Each patient underwent BRIT at least twice; treatment was delivered at 4- to 8-week intervals according to each patient's circumstances. The 2 patients with LM required three treatment sessions; although their tongue volume decreased after each session, both still required a partial glossectomy to achieve a satisfactory reduction in volume. The patient with LC underwent two BRIT treatments, which reduced the size of the lesion by half; the remainder was excised. The 2 patients with a VM (1 buccal and 1 lingual) responded well to BRIT, and their malformations almost completely disappeared. Our early results with BRIT suggest that it is an effective treatment for oral cavity vascular malformations-more so for patients with venous rather than lymphangiomatous lesions.