Oral amyloidosis: an update.

BACKGROUND: Amyloidosis is a disease characterized by the progressive deposition of abnormal proteins that can occur in any organ. In the oral cavity, the tongue is the most common affected site, usually causing macroglossia. Biopsy is essential for the diagnosis and the occurrence of its systemic form is mandatory to be investigated. This systematic review evaluated the existing information in the literature on Amyloidosis in the oral cavity to allow a more comprehensive and updated analysis of its clinicopathological characteristics, as well as to explore the main forms of treatment and prognostic factors. MATERIAL AND METHODS: Electronic searches were undertaken in five databases supplemented by manual scrutiny. RESULTS: A total of 111 studies were included with 158 individuals. CONCLUSIONS: The disease had a higher prevalence in women, the tongue was the most affected site, as well as the systemic form of the disease. The worst prognosis was for cases of systemic amyloidosis associated with multiple myeloma.

Clinical relevance of macroglossia to disease progression in ventilation dependent patients with advanced ALS.

BACKGROUND: Macroglossia is one of the clinical signs that emerges in patients with amyotrophic lateral sclerosis (ALS) who are undergoing invasive ventilation. OBJECTIVE: We aimed to investigate the relationship between the progression of macroglossia and the clinical characteristics during the advanced stages of ALS. METHODS: Forty-one patients with ALS using invasive ventilation with tracheostomy were prospectively followed over a 3-year period. We evaluated the prevalence of macroglossia, motor disabilities including oral function, communication ability (communication stage I to V) as a marker of disease progression, and nutritional factors. We analyzed the potential factors affecting the progression of macroglossia using a multivariate logistic analysis. RESULTS: The number of patients with macroglossia was increased during the follow-up (from 24.4 to 53.7%), while the communication stage progressed from 2.6 in average (SD 1.7) to 3.5 (1.4). During the study, body weight increased, while energy intake decreased, suggesting progressive hypometabolism. Eight patients had newly developed macroglossia during the study and showed greater progression of communication impairment than those without macroglossia. Multivariate logistic regression analysis showed that communication impairment was a factor associated with macroglossia. CONCLUSION: Macroglossia in advanced ALS with invasive ventilation is associated with disease progression.

Fetal Micro and Macroglossia: Defining Normal Fetal Tongue Size.

OBJECTIVES: Abnormal fetal tongue size is a phenotypic feature of various syndromes including Beckwith-Wiedemann, Pierre-Robin, oromandibular limb hypoplasia, chromosomal aberrations, etc. Current data regarding normal fetal tongue size are limited. Hence, micro/macroglossia are subjectively determined. The aim of the study was to construct a contemporary fetal tongue nomogram and to assess its clinical contribution. METHODS: A prospective cross-sectional study was performed in well dated, low risk, singleton pregnancies. Fetal tongues were measured by 5 trained sonographers. Highest quality images were selected. Intra- and interobserver variability was assessed. Tongue length, width, area, and circumference 1st to 99th centiles were calculated for each gestational week. Based on the normal tongue size charts, we created a Tongue Centile Calculator. RESULTS: Over 18 months, 664 tongue measurements were performed. A cubic polynomial regression model best described the correlation between tongue size and gestational age. The correlation coefficient (r2 ) was 0.934, 0.932, 0.925, and 0.953 for tongue length, width, area, and circumference, respectively (P < .001). Intra- and interobserver variability had high interclass correlation coefficients (>0.9). Using the new charts, we were able to identify 2 cases of macroglossia, subsequently diagnosed with Beckwith-Wiedemann, and 4 cases of microglossia, 3 associated with Pierre-Robin sequence, and 1 associated with persistent buccopharyngeal membrane. CONCLUSIONS: We present novel fetal tongue size charts from 13 to 40 weeks of gestation. Clinical application of these nomograms may be beneficial in the prenatal diagnosis of syndromes or malformations associated with abnormal fetal tongue size.

A novel approach in diagnosing multiple dentigerous cysts using CBCT illustration indicative of Mucopolysaccharidosis VI - a case report.

Mucopolysaccharidosis VI is a genetic disorder affecting multiple organs with sundry clinical presentations. The main etiological factor reflects the disturbances in mucopolysaccharide metabolism leading to deposition of acid mucopolysaccharide in various tissues. The pathognomonic features of the disease include a large head, short neck, corneal opacity, open mouth associated with an enlarged tongue, enlargement of the skull, and long anteroposterior dimension with unerupted dentition, dentigerous cyst-like follicles, condylar defects, and gingival hyperplasia. An 18-year-old boy with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) is described in this article, emphasizing the oral manifestations and radiographic illustration of lesions in the jaws. It also emphasizes the essential role of cone-beam computed tomography to identify and analyze multicentric pathologies in the jaws.

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".

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.

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

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

Macroglossia in primary lateral sclerosis: a case report.

Purpose/Aim: Macroglossia is a rare condition, especially in patients with motor neuron disease. In this case report, we describe a patient with macroglossia in the early stages of motor neuron disease. Case report: A 62-year-old woman presented with macroglossia in the early stages of motor neuron disease. She was referred to the department of physical medicine and rehabilitation of a university hospital for rehabilitation with the diagnosis of motor neuron disease, most likely primary lateral sclerosis. Her speech was incomprehensible, and she also showed significant sialorrhea and had difficulty in chewing large solid food. Her tongue was enlarged on examination, and she could not close her mouth fully. No other possible causes of macroglossia were found. She showed nocturnal hypercapnia on overnight capnography examination coupled with desaturation, which was believed to result from the macroglossia. After commencing non-invasive ventilation with pressure control mode, follow-up overnight capnography revealed EtCO2 values within the normal range. Conclusions: To the best of our knowledge, this is the first report of macroglossia in PLS. Further study would be needed to ascertain the pathogenesis of this phenomenon.

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.

Prevalence of sleep-disordered breathing in patients with Beckwith-Wiedemann syndrome.

PURPOSE: Patients with Beckwith-Wiedemann syndrome (BWS), a genetic disorder characterized by macroglossia, abdominal wall malformations, and gigantism, are at risk for sleep-disordered breathing (SDB). SDB is defined by abnormal breathing that is exacerbated during sleep and is a spectrum ranging from apnea of prematurity to obstructive sleep apnea (OSA). The aim of this study is to determine the prevalence of SDB in children with BWS, and to document clinical characteristics and method(s) of treatment. METHODS: This is a retrospective cohort study of children with BWS seen at Boston Children's Hospital between 1979 and 2010. Clinical features, presence, type, treatment, and outcomes of SDB were documented. RESULTS: The prevalence of SDB in the 118 patients with BWS was 48% (n = 57). This included 16 subjects who had airway obstruction limited to the neonatal period (26%), 26 subjects with snoring or other obstructive symptoms not diagnosed by polysomnography (46%), and 15 patients with OSA confirmed by polysomnography (28%). Macroglossia was not a significant predictor of SDB, although adenotonsillar hypertrophy was (P < 0.001). Laryngomalacia, feeding problems, and gastroesophageal reflux also predicted a higher risk for SDB (P < 0.018). OSA was most commonly treated with partial glossectomy and/or adenotonsillectomy. CONCLUSION: The prevalence of SDB in this cohort of patients with BWS was 48%. The etiology of SDB in these patients is multifactorial and may not be solely the result of a large tongue. Further information as to the site(s) of airway obstruction in patients with BWS will help guide treatment strategies.

[Coblation-channelling for the tongue].

OBJECTIVE: To investigate the efficacy of Coblation-channelling for the tongue(CCT) treatment of tongue hypertrophy. METHOD: The 31 patients with severe obstructive sleep apnea hypopnea syndrome (OSAHS) combining tongue hypertrophy staged as Friedman ll or N were performed CCT after nasal septum surgery, coblation channelling of bilateral inferior turbinate and coblation-assisted UPPP. While the vertical channelling in the base and the body of the tongue, the tilted one parallel side edge and posterior to the tongue were combined. The intraoperative and postoperative complications such as bleeding were observed. The 12 months postoperative follow-up were done by MRI of the tongue. RESULT: The retrolingual space were expanded postoperatively. The 2 bleedings occurred immediately after channellings in the tongue body, and they were stopped by local compression. No postoperative tongue paralysis, no tongue hematoma and abscess happened. The tongue sizes changed from preoperative III or IV degree to postoperative I to II degrees. One case received three CCT sessions. CONCLUSION: CCT treatment tongue hypertrophy is a individually safe, effective and minimally invasive treatment.

Modifications to the airway management trainer intubation head for training in difficult airway recognition through a comparative study with the Airsim® intubation head.

INTRODUCTION: The goal of this study was to explain some modifications to the Airway Management Trainer intubation head (case) that transform it into a difficult airway intubation head and to compare it with the Airsim intubation head (control). METHODS: Eight anesthesiologists (5 experienced and 3 residents) conducted 80 endotracheal intubations each, 10 intubations with each of the 2 airway training heads under 4 distinct clinical scenarios: normal airway, macroglossia (placing a squash ball under the tongue), cervical spine rigidity (with tape placed on the cervical spine to inhibit its extension), or both macroglossia and cervical spine rigidity. We used a Macintosh laryngoscope with a #3 blade and a 7-mm (internal diameter) endotracheal tube. The outcome variables included intubation time, ease of intubation (Likert scale), glottis visualization (Cormack-Lehane scale), and the need for maneuvers for intubation. The statistical tests used were the t test and the χ test. A P < 0.05 was considered statistically significant. RESULTS: The intubation was more difficult in the case, but this difference was only statistically significant in normal airway and combining macroglossia and spinal rigidity, and the time of intubation was longer in the case than in the control. In the evaluation of the glottic view grade when we combined macroglossia and cervical rigidity, the case presented significantly more cases of Cormack-Lehane grade 3. CONCLUSIONS: The present modifications proposed for the Airway Management Trainer are easy to complete to render it similar to the Airsim for training in difficult airway management.

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.

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.

Glossectomy as an adjunct to correct an open-bite malocclusion with shortened maxillary central incisor roots.

A young man, 19 years of age, with the chief complaint of an anterior open bite, came for orthodontic treatment with a skeletal Class I relationship, anterior open bite, shortened maxillary incisor roots, and relative macroglossia. The malocclusion was treated by extracting the maxillary first premolars and using a fixed edgewise appliance. A partial glossectomy was performed before the orthognathic surgery with a 3-piece segmental LeFort I mandibular setback, and advancement was achieved with a reduction genioplasty. A functional and esthetic occlusion with an improved facial profile was established, and the apex of the maxillary left central incisor became slightly rounded after prolonged and significant tooth movement. Four years after treatment, there was occlusal stability of the results, and no further root shortening was observed.

Use of the Bonfils intubating fibrescope in a baby with a severely compromised airway.

We report the successful use of a 2-mm rigid Bonfils intubation endoscope as a rescue device in a 5-week-old baby presenting with an unstable airway due to massive macroglossia and multiple hemorrhagic lymphangiomata compressing the airway and resulting in a Cormack and Lehane grade 4 view. The limited intraoral space rendered it impossible to visualize the laryngeal inlet or insert a laryngeal mask, Glidescope or Airtraq blade into the patient's mouth. A 2-mm Bonfils fibrescope passed easily into the patient's mouth and facilitated a grade 1 view of the laryngeal inlet with subsequent successful intubation at first attempt with a 3.5-mm uncuffed endotracheal tube. There are very few alternatives to rescue such an airway in this age group with this type of pathology and surgical intervention would have been difficult due to the vascular nature of the lesion. Bonfils intubation endoscopes (Karl Storz Endoscopy, Tuttlingen, Germany) are a series of reusable devices consisting of a rigid metal tube with a fixed 40° anterior tip curvature containing a fibreoptic bundle. They are available in three sizes with outside diameters of 2, 3.5, or 5 mm. The advantage of the pediatric 2-mm Bonfils fibrescope is that it allows intubation with a 2.5-mm endotracheal tube. There is a paucity of the literature pertaining to the use of the Bonfils endoscope as a rescue device for intubation of small infants and neonates. In our case, the infant's airway was compromised as a result of a receding mandible, large protruding tongue, glottic distortion, and limited intraoral space. This prevented the use of bulkier rescue airway devices with the potential for traumatic manipulation, which could have lead to rapid deterioration of an already unstable airway. We feel that many clinicians are unaware of the benefits of the Bonfils fibrescope and suggest further studies to increase its use in elective and emergency situations.

Assessment of the impact of tongue size in patients with bimaxillary protrusion.

BACKGROUND: Tongue size, posture and pressure are considered to have significant influences on the positioning of dentoalveolar structures. Based on the equilibrium theory, forward resting posture of the tongue with light force and long duration could have both a horizontal and vertical effect on teeth. Bimaxillary proclination, a malocclusion trait often seen in African descents with multifactorial etiological factors, could well be related to tongue dimensions. OBJECTIVES: The aim of this study was to evaluate the relationship between tongue dimensions and bimaxillary proclination patients. METHODOLOGY: One hundred selected lateral cephalometric radiographs of consecutive orthodontic patients who met the study criteria were divided into study (bimaxillary proclination with interincisal angle [I/I]< 108°) and control (normal with interincisal relationship [I/I] ≥ 108°) groups. The subjects' tongues were pre-coated with barium sulphate before radiography in order to delineate the tongue outline. Tongue dimensions and the intermaxillary space surface area were determined and analyzed using SPSS version 11 and a computer programme for epidemiological analysis. RESULTS: The mean tongue measurements in the bimaxillary proclination group were higher than those in the control group except for tongue proportion. These differences were statistically significant for tongue thickness, tongue length and intermaxillary space length (P < 0.05). However, there was no statistically significant difference in the tongue area and intermaxillary space area between subjects with bimaxillary proclination and a normal interincisal relationship (P > 0.05). None of the variables (tongue thickness, tongue length, intermaxillary space length, tongue area and percentage tongue proportion) could be used as predictors for interincisal relationship. CONCLUSION: Tongue length, thickness and intermaxillary space length were significantly different between the bimaxillary and normal subjects. However, none of the measured tongue variables could be used as a predictor for incisor relationship.

Two-phase orthodontic treatment of a complex malocclusion: giving up efficiency in favor of effectiveness, quality of life, and functional rehabilitation?

The interceptive orthodontic treatment of patients with complex dentofacial abnormalities is frequently inefficient and produces less than ideal outcomes. Therefore, postponing therapy to a single-phase surgical-orthodontic approach might be considered a reasonable option. However, other relevant aspects of the patient's quality of life, such as possible psychosocial problems and functional impairments, should also be considered before deciding whether to intercept a severe dentofacial malocclusion while the patient is still growing, or wait and treat later. This case report describes the nonsurgical treatment of a young patient with a severe Class III open-bite malocclusion associated with a cervical cystic lymphangioma. Despite the poor interceptive therapy prognosis, a 2-phase approach was effective. A reflection about giving up efficiency in favor of effectiveness, functional rehabilitation, and the patient's quality of life is included.