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.

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.

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 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.

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.

Algorithm for the differential diagnosis of posterior open bites: two illustrative cases.

PURPOSE: Posterior open bites can result from several causes: trauma, degenerative changes, tongue thrust habits, single-tooth ankylosis, multiple-tooth ankylosis, and/or condylar hyperplasia. Occasionally, posterior open bites are secondary to a combination of condylar hyperplasia and dental ankylosis, which can be difficult to diagnose and treat because of the large array of causative problems. MATERIALS AND METHODS: This article presents 2 unusual cases of posterior open bite secondary to multiple etiologies in adolescent male patients. A useful method of algorithmic diagnosis, treatment, and protocol is presented that was used for these cases. RESULTS: The 2 cases were successfully diagnosed and treated using the formulated algorithm for posterior open bites. CONCLUSIONS: The algorithms presented facilitate the differential diagnosis of posterior open bites with ambiguous etiology.

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.

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.

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.

Treatment of skeletal open-bite malocclusion with lymphangioma of the tongue.

Lymphangioma of the tongue causes massive tongue enlargement, leading to difficulties in swallowing and mastication, speech disturbances, airway obstruction, and skeletal deformities such as open-bite malocclusion. Early reduction of tongue volume improved the excessive open bite in a young girl, but it was not sufficient to redirect the original hyperdivergent growth pattern. Orthodontic camouflage treatment was therefore rendered. Long-term evaluation after tongue-reduction surgery and orthodontic treatment is presented.

Impact of tongue reduction on overall speech intelligibility, articulation and oromyofunctional behavior in 4 children with Beckwith-Wiedemann syndrome.

OBJECTIVE: The purpose of this study was to determine the impact of partial glossectomy (using the keyhole technique) on speech intelligibility, articulation, resonance and oromyofunctional behavior. PATIENTS AND METHODS: A partial glossectomy was performed in 4 children with Beckwith- Wiedemann syndrome between the ages of 0.5 and 3.1 years. An ENT assessment, a phonetic inventory, a phonemic and phonological analysis and a consensus perceptual evaluation of speech intelligibility, resonance and oromyofunctional behavior were performed. RESULTS: It was not possible in this study to separate the effects of the surgery from the typical developmental progress of speech sound mastery. Improved speech intelligibility, a more complete phonetic inventory, an increase in phonological skills, normal resonance and increased motor-oriented oral behavior were found in the postsurgical condition. The presence of phonetic distortions, lip incompetence and interdental tongue position were still present in the postsurgical condition. CONCLUSION: Speech therapy should be focused on correct phonetic placement and a motor-oriented approach to increase lip competence, and on functional tongue exercises and tongue lifting during the production of alveolars. Detailed analyses in a larger number of subjects with and without Beckwith-Wiedemann syndrome may help further illustrate the long-term impact of partial glossectomy.

The effects of macroglossia on speech: a case study.

This article presents a case study of speech production in a 14-year-old Amharic-speaking boy. The boy had developed secondary macroglossia, related to a disturbance of growth hormones, following a history of normal speech development. Perceptual analysis combined with acoustic analysis and static palatography is used to investigate the specific articulatory compensations arising from the macroglossia. The subset of sounds chosen for study were the denti-alveolar and alveolar plosives, fricatives, ejectives, nasal, lateral and trill produced in single words, as well as in short phrases. The phonetic analysis revealed both spatial and temporal atypicalities in the realisations of the sounds in question. Speaking rate was slow relative to his peer's speech and attempts to increase speech rate resulted in dysfluent speech. Given the phonological system of Amharic, however, the atypical segmental realisations, while reducing both the intelligibility and acceptability of the participant's speech production, did not result in loss of phonological contrasts.

A severe open bite case treated with orthodontics and tongue reduction surgery: 13-year followup. A case report.

BACKGROUND: The management of open bite malocclusions creates controversy when treatment approach and long-term stability are considered. Tongue size, posture and habits have been associated as aetiologic and compounding factors. Reduction tongue surgery has therefore been advocated as an aid in treatment, especially when the open bite is accompanied by perceived macroglossia. AIM: The present article describes a clinical case of a 10-year-old girl who started treatment in the mixed dentition with an excessive open bite and speech defects. METHODS: A combination of orthodontics and a partial glossectomy was necessary to successfully address the open bite associated with an enlarged tongue. RESULTS: The need for orthognathic surgery treatment was eliminated and the patient was satisfied with the post-treatment aesthetics, function and speech. CONCLUSION: After 13 years of follow-up, a stable occlusion was maintained with only minor relapse.

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.

Macroglossia is defined as an enlarged tongue and it is usually clinically diagnosed. Pseudomacryglossia concerns a tongue that is of normal size but gives a false impression of being too large in relation to adjacent anatomical structures. The causes of macroglossia are numerous and this is why various classifications have been proposed for this condition. The consequences of macroglossia usually include a possible malfunction of the stomatognathic system, breathing and speech problems, increased mandible size, tooth spacing, diastema and other orthodontic abnormalities. The treatment of macroglossia depends on its aetiology and generally includes correcting the systemic disease underlying the increase in lingual mass, surgical treatment, radiotherapy and treatment of orthodontic abnormalities that might have been caused by the condition.

[New modification of Reynwald macroglossia reduction]. / Modyfikacja wlasna metody Reynwalda operacji redukcyjnych przerosnietego jezyka.

INTRODUCTION: Macroglossia usually occurs as isolated malformation, however it can coexist with some of the hereditary defect. Enlargement of the tongue can cause cosmetic and functional difficulties. AIM: The aim of this paper was to analyzed patients with macroglossia operated with own modified Reynwald method. It was based on analysis of surgical treatment and rehabilitation of patients with: Down syndrome, oral-facial-digital syndrome and cerebral palsy, treated at the Department of Plastic, Reconstructive and Aesthetic Surgery, Medical University of Lodz. MATERIAL AND METHODS: 63 patients (32 females and 31 males) with Down syndrome (60), oral-facial-digital syndrome (2) and cerebral palsy (1) were operated at the Department of Plastic, Reconstructive and Aesthetic Surgery, Medical University of Lodz, because of hypertrophy of the tongue. 42 patients were operated with partial resection of macroglossia, 2 of them with additional correction of the tongue border and 21 patients with own modified Reynwald method. RESULTS: Postoperative treatment was non-complicated in all the patients. Early and long-lasting postoperative results were regard as satisfactory, and lead to improvement of basic physiological functions. CONCLUSIONS: 1. 3­6 years are the optimal age to partial macroglossia reduction. 2. Analyze of surgical macroglossia treatment showed effectiveness of methods based on partial resection of tongue. Surgical treatment with own modified Reynwald method lead to increase of number of satisfied postoperative results. 3. Partial resection of macroglossia influence on patients look, integration and environment acceptance; in children with deep retardation it simplify nursing.