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.

Evaluación de la articulación temporomandibular en sujetos con síndrome de Down / Temporomandibular joint evaluation in subjects with Down syndrome

Introducción: Los sujetos con síndrome de Down (SD) presentan hipotonía y disfunciones en el sistema estomatognático, tales como disminución de la cavidad oral, macroglosia y maloclusiones, incrementando la prevalencia de los trastornos temporomandibulares. Objetivo: Evaluar la articulación temporomandibular de los sujetos con SD a fin de verificar la prevalencia de los trastornos temporomandibulares y las posibles relaciones posturales. Métodos: Se incluyó en este estudio a 40 individuos con SD. Se evaluó la articulación temporomandibular mediante examen físico funcional y preguntas sobre los hábitos diarios de cada participante. Posteriormente, los sujetos fueron fotograbados delante de un posturógrafo, evaluándose sus posturas. Resultados: La mayoría de los participantes presentó disfunción de la articulación temporomandibular (77,5%). Los signos y los síntomas más frecuentes fueron alteraciones en relación con el tipo de mordida y hábitos parafuncionales, con una correlación significativa con la presencia de disfunción temporomandibular (p = 0,038). Todos los participantes que manifestaron dolor presentaron disfunción articular (p = 0,016). Las alteraciones posturales encontradas no tuvieron correlación con la presencia de disfunción temporomandibular. Conclusión: Se observó una alta prevalencia de disfunción temporomandibular en los individuos evaluados y una importante relación entre la disfunción y la presencia de hábitos parafuncionales y dolor en sujetos con SD (AU)

Background: Subjects with Down syndrome present hypotonia, stomatognathic alteration system, such as small oral cavity, macroglossia and malocclusions, may suggest a higher risk for temporomandibular disorders. Aim: to evaluate the temporomandibular joint of Down syndrome subjects with, to verify temporomandibular disorders prevalence and possible postural associations. Methods: Forty subjects was included in this study. Temporomandibular joint was evaluated across functional physical screening and questions about daily habits. After, the subjects was submitted a postural evaluation through photographic registers in front of a crisscross space. Results: Most subjects was presented temporomandibular disorders (77.5%). The most common signs and symptoms found were bite alterations and parafunctional habits. Moreover, parafunctional habits and pain were positively correlated to temporomandibular disorder in these subjects (p = 0.038 and p = 0.016 respectively). Postural alterations were not significant correlation with temporomandibular disorder. Conclusion: To verified a high prevalence of temporomandibular disorder and important relationship between parafunctional habits and pain in subjects with Down syndrome (AU)

Recidiva de fibroadenoma juvenil en paciente afecta de síndrome de Beckwith-Wiedemann / Recurrence of juvenile fibroadenoma in a patient with Beckwith-Wiedemann syndrome

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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.

Macroglosia secundaria a enfermedad de Madelung / Macroglossia in Madelung's disease

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Glosectomía parcial en paciente portador del síndrome de Beckwith-Wiedemann: relato del caso / Partial glossectomy in a patient carrier of Beckwith-Wiedemann syndrome: presentation of a case

El síndrome de Beckwith-Wiedemann es una alteración congénita con diversas manifestaciones clínicas, de entre las cuales las más prevalentes son la macroglosia (97%), el gigantismo (88%) y los defectos de la pared abdominal (80%). Ortodónticamente, la mayoría de los pacientes presentan mordida abierta anterior y relación de clase III de Angle. La macroglosia puede causar problemas estéticos y anomalías funcionales relacionadas con el habla, la masticación, fonación, deglución y respiración, con potencial de obstrucción de las vías respiratorias superiores y disminución de la estabilidad del tratamiento ortoquirúrgico. Con el fin de evitar episodios como este, es necesaria la realización de una glosectomía parcial en algunos pacientes. El presente trabajo realiza consideraciones con relación al diagnóstico y tratamiento de la macroglosia y relata el caso clínico de un paciente portador del síndrome de Beckwith-Wiedemann que fue intervenido por medio de glosectomía parcial, utilizando la técnica preconizada por Obwergeser et al. (1964) y que en un postoperatorio de 3 años presentó resultados cosméticos y funcionales satisfactorios (AU)

The Beckwith-Wiedemann syndrome is a congenital disorder with diverse clinical manifestations, among which the most prevalent are, macroglossia (97%), gigantism (88%), and abdominal wall defects (80%). Orthodontically, most patients present with anterior open bite and Angle class III malocclusion. Macroglossia can cause cosmetic problems and functional abnormalities associated with speech, mastication, swallowing and breathing, with potential obstruction of the upper airways and decreased stability of orthodontal-surgical treatment. In order to avoid episodes like this, a partial glossectomy is necessary in some patients. This article looks at the diagnosis and treatment of macroglossia, while presenting the case of a patient with Beckwith- Wiedemann syndrome who underwent surgery by partial glossectomy using the technique advocated by Obwergeser et al., 1964, and 3 years postoperatively showed good cosmetic and functional results (AU)

Macroglosia / Macroglossia

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Síndrome de la apnea-hipoapnea obstructiva del sueño en el niño: más allá de la hipertrofia adenoamigdalar / Obstructive sleep apnea-hypopnea syndrome in children: Beyond adenotonsillar hypertrophy

La prevalencia del síndrome de la apnea-hipoapnea obstructiva del sueño en la población infantil general es del 1-2% y su causa más frecuente es la hipertrofia adenoamigdalar. Las prevalencias en las otras causas de este síndrome, más allá de la hipertrofia adenoamigdalar, son elevadas. En muchas de estas enfermedades los motivos por los que se genera el síndrome de la apnea-hipoapnea obstructiva del sueño son multifactoriales (hipotonía muscular, alteraciones dentofaciales, hipertrofia de tejidos blandos de la vía aérea, alteraciones neurológicas). Es fundamental la colaboración entre las diferentes especialidades implicadas, dada la gran variabilidad de enfermedades, la frecuente participación de diferentes factores en su génesis y los diferentes tratamientos que deben aplicarse. Se ha procedido a una amplia revisión bibliográfica de estas otras causas de síndrome de la apnea-hipoapnea obstructiva del sueño infantil, que van más allá de la hipertrofia adenoamigdalar. Se han intentado ordenar de una forma coherente, a criterio del autor, revisando los aspectos más destacados con relación a la prevalencia de síndrome de la apnea-hipoapnea obstructiva del sueño en cada una de ellas, los motivos por los que provocan este síndrome, sus interacciones y manejo (AU)

The prevalence of obstructive sleep apnea-hypopnea syndrome in the general childhood population is 1-2% and the most common cause is adenotonsillar hypertrophy. However, beyond adenotonsillar hypertrophy, there are other highly prevalent causes of this syndrome in children. The causes are often multifactorial and include muscular hypotonia, dentofacial abnormalities, soft tissue hypertrophy of the airway, and neurological disorders). Collaboration between different specialties involved in the care of these children is essential, given the wide variability of conditions and how frequently different factors are involved in their genesis, as well as the different treatments to be applied. We carried out a wide literature review of other causes of obstructive sleep apnea-hypopnea syndrome in children, beyond adenotonsillar hypertrophy. We organised the prevalence of this syndrome in each pathology and the reasons that cause it, as well as their interactions and management, in a consistent manner (AU)

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.