Beckwith-Widemann Macroglossia: The Role of Surgical Tongue Reduction.

Objective: This review was conducted to define the natural history of unoperated Beckwith-Wiedemann syndrome (BWS) macroglossia and the effect of tongue reduction surgery upon breathing, eating, speaking and dentoskeletal development in individuals having BWS. Design: This is a retrospective study of medical records. SETTING: All patients were evaluated and treated in one of two Children's Hospitals by an ACPA approved Craniofacial Team. PATIENTS/PARTICIPANTS: Medical records were reviewed of 526 individuals having a diagnosis of BWS and evaluated in-person by a single craniofacial surgeon between 1986 and 2014 in conjunction with a series of multi-disciplinary craniofacial team colleagues. 28 individuals were excluded having had multiple tongue reductions elsewhere. 498 individuals comprise the "pre tongue-reduction group". The "post tongue-reduction group" consists of 391 individuals who underwent surgical tongue reduction by one surgeon using one technique between 1986 and 2014. MAIN OUTCOME MEASURES: The primary outcome measure was change in anterior dental occlusion following tongue reduction surgery. Tongue reduction surgery was performed on the assumption that it would improve dentoskeletal relationships. Secondary outcome measures were: breathing, feeding/swallowing, and speech. Results: A significant difference (p<0.001) over time between the two groups was found with less anterior occlusal abnormality in the tongue reduction group. Tongue reduction surgery had no mortality and minimal morbidity for breathing, feeding/swallowing, and speech and can ameliorate obstructive sleep apnea. Conclusions: Surgical tongue reduction for BWS macroglossia is recommended for the infant or child in primary dentition with a grossly abnormal anterior tooth/jaw relationship and/or obstructive sleep apnea.

Sturge-Weber syndrome with massive macroglossia and anterior neck space infection- a case report and review of literature.

Sturge- Weber syndrome (SWS), is a rare neuro-cutaneous angiomatosis which affects male and females alike. The clinical manifestations include angiomas, haemangiomas of the lips, tongue and palatine region. The oral manifestations are usually unilateral and are susceptible to bleed. Patients can also present with macroglossia and maxillary bone hypertrophy which can lead to malocclusion of the oral cavity. Food accumulation due to occlusion can cause growth of bacteria which can intensify infections and can cause gingival hyperplasia. A case of a middle-aged 39 year old female was reported in the Ziauddin Hospital, Karachi on 2nd of February,2022 with the presenting complaints of intermittent fever and drowsiness for 10 days. On examination she had massive tongue enlargement, drooling, malocclusion, difficulty in eating and breathing. She was a known case of Sturgeweber syndrome. Based on the clinical and radiological findings, she was managed along the lines of prelaryngeal soft tissue and submandibular infection.

Macroglossia: A potentially severe complication of late-onset Pompe disease.

BACKGROUND: Pompe disease is a rare neuromuscular disorder caused by a deficiency of a lysosomal enzyme, acid α-glucosidase. Macroglossia is a classic clinical sign of several inherited myopathies and has also been reported to occur progressively in late-onset Pompe disease (LOPD). METHODS: We describe patients with LOPD and macroglossia included in the French national Pompe disease registry. Clinical, functional, and radiological data were collected during periodic follow-up and analyzed retrospectively. These cases were compared with 15 previously reported cases. RESULTS: Five patients, three females and two males, aged 71-88 years, were included in this study. All but one of the patients suffered from symptoms related to macroglossia before the diagnosis of Pompe disease. Three had localized tongue atrophy and one had significant localized tongue hypertrophy which led to glossectomy 10 years before diagnosis. Two patients had severe dysphagia, one of whom underwent gastrostomy for enteral nutritional support. One patient experienced the persistence of numerous sleep apneas despite nocturnal bilevel positive airway pressure (BiPAP) ventilation. All our patients had dysarthria, and two required speech therapy. Four patients had a tongue hypersignal on magnetic resonance imaging (MRI) T1 sequences. CONCLUSIONS: Detection of macroglossia should be part of the clinical diagnosis and follow-up of patients with LOPD, with a careful evaluation of its main consequences. Macroglossia can have severe functional impacts on speech, swallowing, and sleep. Whole-body MRI with facial sections may facilitate the early diagnosis of Pompe disease with the "bright tongue sign".

Macroglossia in a pig diagnosed as Becker muscular dystrophy due to dystrophin pseudoexon insertion derived from intron 26.

We report a case of Becker muscular dystrophy in a 6-month-old, mixed-breed, castrated male pig detected with macroglossia at a meat inspection center. The pig presented a severely enlarged tongue extending outside its mouth. The tongue was firm and pale with discolored muscles. Histologically, there was severe fibrosis, fatty replacement, and myofiber necrosis, degeneration, and regeneration. Immunofluorescence showed focal and severely weak labeling for dystrophin at the sarcolemma of myocytes in the tongue. Analysis of dystrophin mRNA showed a 62 base pair insertion between exons 26 and 27. The insertion was derived from intron 26. Based on these findings, we diagnosed the case as Becker muscular dystrophy-the first known muscular dystrophy case induced by pseudoexon insertion in animals.

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

OBJECTIVE: Macroglossia is a characteristic feature of Beckwith-Wiedemann syndrome (BWS), commonly treated with reduction glossectomy to restore form and function. There exists no consensus on the perioperative management of these patients undergoing tongue reduction surgery, including anecdotal information regarding how long postoperative intubation should be maintained. The aim of this study is to evaluate the necessity of prolonged postoperative intubation in patients receiving tongue reduction surgery via the surgical and anesthetic management methods at our center. DESIGN: Retrospective case series. SETTING: Institutional care at Level I Children's Hospital. PARTICIPANTS: All children less than 18 years old with BWS and congenital macroglossia who underwent tongue reduction surgery over 5 consecutive years at our center (N = 24). INTERVENTIONS: Tongue reduction surgery via the "W" technique. MAIN OUTCOME MEASURES: Success of immediate postoperative extubation and related surgical complications. RESULTS: Immediate, uncomplicated postoperative extubation was successfully performed in all patients who received tongue reduction surgery for congenital macroglossia. CONCLUSIONS: Prolonged postoperative intubation for tongue reduction surgery may not be necessary as immediate, uncomplicated postoperative extubation was achieved in 100% of patients who received tongue reduction surgery at our center.

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

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.

The Prevalence of Difficult Airway in Children With Beckwith-Wiedemann Syndrome: A Retrospective Cohort Study.

BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is the most common congenital overgrowth disorder with an incidence of approximately 1 in 10,000 live births. The condition is characterized by lateralized overgrowth, abdominal wall defects, macroglossia, and predisposition to malignancy. Historically, children with BWS have been presumed to have difficult airways; however, most of the evidence to support this has been anecdotal and derived from case reports. Our study aimed to determine the prevalence of difficult airway in patients with BWS. We hypothesized that most patients with BWS would not have difficult airways. METHODS: We retrospectively reviewed the electronic medical records of patients enrolled in our institution's BWS registry. Patients with a molecular diagnosis of BWS who were anesthetized between January 2012 and July 2019 were included for analysis. The primary outcome was the presence of difficult airway, defined as difficult facemask ventilation, difficult intubation, or both. We defined difficult intubation as the need for 3 or more tracheal intubation attempts and the need for advanced airway techniques (nondirect laryngoscopy) to perform tracheal intubation or a Cormack and Lehane grade ≥3 during direct laryngoscopy. Secondary objectives were to define predictors of difficult intubation and difficult facemask ventilation, and the prevalence of adverse airway events. Generalized linear mixed-effect models were used to account for multiple anesthesia events per patient. RESULTS: Of 201 BWS patients enrolled in the registry, 60% (n = 122) had one or more documented anesthetics, for a total of 310 anesthetics. A preexisting airway was present in 22 anesthetics. The prevalence of difficult airway was 5.3% (95% confidence interval [CI], 3.0-9.3; 18 of 288) of the cases. The prevalence of difficult intubation was 5.2% (95% CI, 2.9-9.4; 12 of 226). The prevalence of difficult facemask ventilation was 2.9% (95% CI, 1.4-6.2; 12 of 277), and facemask ventilation was not attempted in 42 anesthetics. Age <1 year, macroglossia, lower weight, endocrine comorbidities, plastics/craniofacial surgery, tongue reduction surgery, and obstructive sleep apnea were associated with difficult airways in cases without a preexisting airway. About 83.8% (95% CI, 77.6-88.5) of the cases were intubated with a single attempt. Hypoxemia was the most common adverse event. CONCLUSIONS: The prevalence of difficult tracheal intubation and difficult facemask ventilation in children with BWS was 5.2% and 2.9%, respectively. We identified factors associated with difficult airway, which included age <1 year, macroglossia, endocrine abnormalities, plastics/craniofacial surgery, tongue reduction surgery, and obstructive sleep apnea. Clinicians should anticipate difficult airways in patients with these factors.

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.

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.

Emergency bronchoscopy for foreign-body aspiration in a child with type I mucopolysaccharidosis: a challenging airway management experience.

The mucopolysaccharidosis (MPS) is a rare lysosomal storage disease. Glycosaminoglycans (GAG) accumulate in musculoskeletal system, connective tissues. Enlarged tongue, short immobile neck, and limited mobility of the cervical spine and temporomandibular joints render the airway management potentially risky. MPS children have high anesthetic risks, especially in airway management of emergency situations. The foreign-body aspiration requiring intervention with rigid bronchoscopy is an urgent and risky clinical situation. We present our experience with a challenging airway management with a three-year-old child with MPS who needed emergency bronchoscopy due to peanut aspiration.

Huge nasopharyngeal teratoma with a cleft palate and bifid tongue in a patient with pierre robin syndrome.

PURPOSE: Nasopharyngeal teratoma is a very rare neoplasm that develops on the oronasal cavity as an expanding and cavity-filling lesion. We present a rare case of nasopharyngeal teratoma associated with a cleft palate and bifid tongue in a patient with Pierre Robin syndrome. METHODS: A preterm male neonate of 33 weeks and 6 days was referred to our department. A protruding solid mass with approximately 7.0 × 4.0-cm size arising from the vomer and combined cleft palate and tongue covered with pinkish skin with lanugo were observed. In addition, there was a bandlike tissue connecting vomer and sublingual area, which divided and restricted the anterior portion of the tongue. RESULTS: An early surgical intervention was decided because of problems with airways and nutrition caused by the mass. The mass was completely removed from the vomer. The histologic examination of the mass was consistent with mature teratoma. After his first operation, he was finally diagnosed with the Pierre Robin syndrome. After 4 months, a tongue reduction was conducted for macroglossia, and after 9 months, remnant teratoma excision and a palate repair were conducted using 2-flap palatoplasty. CONCLUSIONS: A nasopharyngeal teratoma is a rare case and induces a cleft palate and bifid tongue in a preterm infant, leading to severe airway and nutritional problems. A teratoma interferes with the fusion of embryonic tissues in the early developmental period, in particular, with the palatal fusion severely prevented if the teratoma is accompanied by a Pierre Robin syndrome such as in this case.

Lymphangioma of the tongue: report of four cases with dental aspects.

Lymphangiomas are rare congenital malformations which are commonly seen in the head and neck region. The disease can be histologically differentiated from other vascular disorders such as cavernous or capillary hemangioma with the lymphatic endothelium-lined cystic spaces. The onset of lymphangiomas are either at birth (60 to 70%) or up to two years of age (90%). It is rare in adults. The therapeutic strategy is mainly based on the surgical removal of the lesion. The risk of recurrence is high in incomplete removal of the lesion. In this article, we discuss the major clinical manifestations, disease-related impairments and dental problems which patients may face as well as treatment options for lymphangioma of the tongue. Within this context, we present four cases of lymphangioma of tongue, including two with a giant macroglossia leading problems in dentition and related dental problems.

Congenital macroglossia treated by 2-stage partial glossectomy.

Persistent macroglossia affects speech, swallowing, and the dentofacial skeleton. A range of tongue reduction methods have been proposed to preserve the mobility and sensation of the tongue. However, recent reports have shown that speech or esthetic problems still exists, even after a comprehensive glossectomy in early childhood. Because a large volume reduction of the anterior tongue in young growing children might result in a short tongue tip with functional difficulties, it is important to select the appropriate tongue reduction method considering the growth of the tongue.In the current report, a staged tongue reduction was planned to minimize the functional and esthetic problems after surgery. A 3-year-old girl visited our clinic because of congenital macroglossia, phonation problems, and prognathic appearance of the mandible. The tongue was first reduced by a central glossectomy. The speech intelligibility, tongue movement, and skeletal growth pattern were improved after the first surgery. The secondary peripheral tongue reduction was performed 6 years later to achieve an esthetically pleasing tongue appearance.This 2-stage partial glossectomy, central tongue reduction first followed later by a peripheral tongue reduction, ensures functional integrity of the tongue and can provide an esthetically pleasing result in growing children. The results demonstrated that this strategic combination of a staged tongue reduction can be a successful treatment option for macroglossia.

Orthodontic treatment of a patient with Duchenne muscular dystrophy and macroglossia: how informed consent was critical to success.

This article describes the complex orthodontic treatment of a 22-year-old patient with Duchenne muscular dystrophy and macroglossia. His orthodontic treatment hinged on providing proper informed consent and management of the malocclusion with glossectomy, extractions, fixed appliances, and elastics. Challenges to traditional treatment are outlined, and compromises to both process and outcome are discussed from an informed consent point of view because of the serious risks involved. The treatment objectives were met, and the outcome was considered a success.

A 65-Year-Old Woman with an Enlarged Tongue Due to Amyloidosis.

BACKGROUND Amyloidosis is a clinical condition characterized by the extracellular deposition of insoluble, abnormal amyloid fibrils in various body tissues. It is generally categorized into 2 forms - localized and systemic - with a wide range of signs and symptoms. This case report discusses the localized amyloidosis involvement of the oral cavity and its treatment. CASE REPORT A 65-year-old woman presented to the oral medicine clinic reporting painless tongue enlargement, which has been slowly progressing over several years, leading to difficulty in tongue movement, eating, and swallowing. Extra-oral examination showed a prominent lower lip with rubbery consistency. Intra-oral examination revealed a significantly enlarged tongue almost filling the whole oral cavity with dental indentations evident on all tongue surfaces and multiple, deep ulcerative craters of various sizes ranging from 2 to 5 mm in diameter. Histopathological examination under light microscope using hematoxylin and eosinophil and Congo red stain were diagnostic for amyloidosis. Further investigation with the Rheumatology Department, including renal and liver function tests, as well as echocardiography, were conducted and ruled out systemic involvement of other body organs. The patient was treated with weekly intra-lesional triamcinolone injections, with significant improvement. CONCLUSIONS We report a rare case of localized amyloidosis presenting as macroglossia. Although the most effective management in tongue amyloidosis is surgical resection, conservative management in cases of localized oral amyloidosis presenting as macroglossia with weekly intra-lesional triamcinolone injections can be an effective approach, providing patients with better quality of life. Future studies exploring treatment modalities for similar cases with limited oral involvement are warranted.

Oro-dental features in Egyptian patients with familial mediterranean fever.

INTRODUCTION: Familial Mediterranean fever (FMF) is an episodic inflammatory disease that is inherited as an autosomal recessive trait. It is primarily featured by fever, pain in joints, chest, and abdomen due to Serositis. AIM: This study delineated the oro-facial structures presented associated with FMF, as well as, the determination of the potential influences of the long-term inflammatory process of FMF on several oral structures. METHODS: Fifty eight Egyptian FMF patients were examined to define different oro-facial structures. Serum amyloid A (SAA) was requested for the selected patients, MEFV gene mutation was also investigated. RESULTS: The clinical examination revealed peritonitis in 79%, fever in 63.7%, and arthritis in 55% of FMF patients examined, while, oral features as high arched palate, enamel defect, dental malocclusion, and macroglossia in 32%, 27.5%. 26%, and 13.5%, respectively. The previous symptoms might be attributed to the pathology of the disease. Macroglossia when tested versus SAA levels, a highly significant difference was detected. The ROC curve when examining the SAA value to assess macroglossia, displayed reasonable sensitivity and specificity values of, 87.5% and 77.8%, respectively. CONCLUSION: The noticed oro-dental in FMF patients might be influenced by the chronic inflammatory process.

Macroglossia Associated With Primary Systemic Amyloidosis - Case Report With Unusual Clinical Presentation.

BACKGROUND: Amyloidosis is characterised by the deposition of fibrillar insoluble proteinaceous material called amyloid in the extracellular spaces. It may present as localized form which is rare and systemic form. Systemic amyloidosis involves many organs like kidney, heart and liver. Manifestations of both types may vary based on the age of onset, degree and extension of the deposition. Understandably, the diagnosis is challenging but the early identification of the condition and the type of amyloidosis can increase the efficiency of treatment. Positive Congo red staining is the gold standard for demonstration of amyloid in tissue sections. Here we are presenting a case of a 77-year-old female patient who presented with the complaint of difficulty in swallowing for 2 years due to bilateral symmetrical enlargement of the tongue which was subsequently diagnosed as systemic amyloidosis.