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Paediatric Respiratory Reviews Jan 2018Beckwith-Wiedemann syndrome (BWS) is a rare paediatric overgrowth disorder. Associated macroglossia is a feature of many children with BWS and is felt to be a risk... (Review)
Review
Beckwith-Wiedemann syndrome (BWS) is a rare paediatric overgrowth disorder. Associated macroglossia is a feature of many children with BWS and is felt to be a risk factor for obstructive sleep apnoea (OSA). Sleep-disordered breathing is highly variable in this population. The relationship between degree of macroglossia or other genotypic or phenotypic factors and OSA severity has not been established. The natural history of OSA in this population is unknown; a variety of conservative and surgical therapies have been used to treat OSA in children with BWS but none have been studied systematically. Tongue reduction is the mainstay of surgical therapy for macroglossia associated with BWS, but limited data are available regarding its efficacy in treating OSA or its effect on speech and swallowing. More research is needed to better identify which children with BWS are at risk for OSA and the most effective treatment for these patients.
Topics: Beckwith-Wiedemann Syndrome; Child; Disease Management; Glossectomy; Humans; Macroglossia; Risk Assessment; Risk Factors; Sleep Apnea, Obstructive
PubMed: 28366681
DOI: 10.1016/j.prrv.2017.02.003 -
JAAD Case Reports Jun 2018
PubMed: 29984262
DOI: 10.1016/j.jdcr.2017.08.012 -
Dermatology Practical & Conceptual Oct 2023
PubMed: 37992348
DOI: 10.5826/dpc.1304a210 -
Head and Neck Pathology Jun 2020Lymphangiomas are rare, congenital malformations of the lymphatic system which have a marked predilection for the head and neck. In this region, they most commonly occur...
Lymphangiomas are rare, congenital malformations of the lymphatic system which have a marked predilection for the head and neck. In this region, they most commonly occur on the dorsum of the tongue, followed by the lips, buccal mucosa, soft palate, and floor of the mouth. Lymphangiomas of the tongue are commonly present at birth; however, they may go unnoticed until after eruption of the dentition or even puberty. They may present as a defined mass or as macroglossia with impaired speech, difficulty in mastication, and, in extreme cases, airway obstruction. Clinically, lymphagiomas of the tongue are characterized by clusters of pebbly, vesicle-like nodules. A benign proliferation of lymphatic vessels is identified histologically. A classic case of a lymphangioma of the dorsal tongue is presented.
Topics: Female; Humans; Lymphangioma; Tongue Neoplasms; Young Adult
PubMed: 31823215
DOI: 10.1007/s12105-019-01108-z -
Anesthesia Progress 2020Transoral application of a nasopharyngeal airway (NPA) is a novel technique for difficult airway management. Clinically, it is an effective alternative for use in...
Transoral application of a nasopharyngeal airway (NPA) is a novel technique for difficult airway management. Clinically, it is an effective alternative for use in nonintubated dental cases under total intravenous anesthesia. This technique can help improve oxygenation and ventilation in clinical situations in which the conventional use of NPAs is ineffective, such as in patients who have findings of obesity; mandibular retrognathia or hypoplasia; maxillary hypoplasia; macroglossia; nasal obstruction secondary to hypertrophic tonsillar, adenoid, and/or lymphoid tissues or nasal polyps; known unusual nasal anatomy (eg, septal deviation); high risk of prolonged epistaxis (eg, patients on anticoagulants); or those who demonstrate mouth-breathing behaviors during deep sedation/nonintubated general anesthesia. After ensuring proper supraglottic placement, the transorally positioned NPA can be further secured with the use of tape for the duration of the dental procedure. Unlike an oropharyngeal airway, this simple and cost-efficient technique facilitates intraoral access for dental treatment.
Topics: Airway Management; Anesthesia, General; Epistaxis; Humans; Intubation, Intratracheal; Nasopharynx
PubMed: 32191507
DOI: 10.2344/anpr-66-03-04 -
Clinical and Experimental... Feb 2023This study evaluated the surgical outcomes of patients with Beckwith-Wiedemann syndrome who underwent tongue-reduction surgery and analyzed whether the malocclusion and...
OBJECTIVES
This study evaluated the surgical outcomes of patients with Beckwith-Wiedemann syndrome who underwent tongue-reduction surgery and analyzed whether the malocclusion and mandibular prognathism caused by macroglossia could be improved.
METHODS
A retrospective medical record review was performed for 11 patients with Beckwith-Wiedemann syndrome whose macroglossia was surgically treated. Demographic data, symptoms and signs, and intraoperative and postoperative surgical outcomes were evaluated. Surgery was performed by a single surgeon using the "keyhole" technique, involving midline elliptical excision and anterior wedge resection. Preoperative and postoperative plain skull lateral X-rays were evaluated to assess prognathism improvement.
RESULTS
The median age at the time of surgery was 35.09 months, and the ratio of males to females was 4:7. The median surgical time was 98±31.45 minutes, and the median duration of the postoperative intensive care unit stay was 3.81±2.4 days. There were no airway complications. Two patients (18.2%) had postoperative wound dehiscence; however, there was no nerve damage, recurrence, or other complications. Among the five patients who underwent postoperative speech evaluation, all showed normal speech development, except one patient who had brain dysfunction and developmental delay. Measurements of the A point-nasion-B point (ANB) angles and sella-nasion-B point (SNB) angles (point A is the most concave point of the anterior maxilla; point B is the most concave point on the mandibular symphysis) on plain X-rays showed a significant decrease in the postoperative SNB angle (P <0.001) and a significant increase in the ANB angle (P <0.011).
CONCLUSION
Tongue-reduction surgery is an effective and safe technique for severe forms of macroglossia associated with Beckwith-Wiedemann syndrome. In addition, it improves mandibular prognathism in young Beckwith-Wiedemann syndrome patients with macroglossia.
PubMed: 36330707
DOI: 10.21053/ceo.2022.00976 -
Pakistan Journal of Medical Sciences 2021It is known that the prevalence of obstructive sleep apnea (OSA) is increased in acromegaly. Craniofacial anomalies, macroglossia, and thickening of the laryngeal wall...
BACKGROUND AND OBJECTIVES
It is known that the prevalence of obstructive sleep apnea (OSA) is increased in acromegaly. Craniofacial anomalies, macroglossia, and thickening of the laryngeal wall caused by the increase in soft tissue in these patients lead to OSA. Also, the increase in growth hormone can trigger central apnea by causing a decrease in respiratory drive. Determining the polysomnographic characteristics of acromegaly patients is important to reveal the effect of these mechanisms.
METHODS
The demographic and polysomnographic characteristics of 33 acromegaly patients who underwent polysomnography (PSG) with suspicion of sleep disorders between 2011 and 2018 in the sleep laboratory of our hospital were retrospectively analyzed. One of the patients was excluded from the analysis because PSG was performed in the postoperative period. The remaining 32 patients with active acromegaly were grouped according to their gender and the presence of OSA and compared with statistical methods in terms of polysomnographic and clinical features.
RESULTS
OSA (AHI>5) was detected in 78.1% of 32 active acromegaly patients (18 females, 14 males) who underwent PSG with suspicion of sleep-disordered breathing. Moderate-severe OSA (62.5%) was found in most patients, and there was no difference between the sexes in terms of OSA detection rate and OSA severity. Respiratory events appear to be predominantly obstructive hypopneas. Also, the polysomnographic features of female and male acromegaly patients with OSA were found to be similar. It is seen that the OSA group is similar to the group with simple snoring in terms of body mass index (BMI), but is statistically significantly older (p=0,007). A positive correlation was found between age and AHI in pairwise correlation analysis (r:0,426 p:0,015, respectively).
CONCLUSION
Considering that the prevalence of OSA in the population is approximately 5%, our results show that the risk of OSA in acromegaly increases, and obstructive pathways are effective in this increase. The probability of OSA occurrence and polysomnographic features between the genders are similar. Although the median BMI of the patients with and without OSA was similar, the median age was higher in the group with OSA, middle-aged acromegaly patients should be evaluated in terms of OSA even if there is no obvious obesity.
PubMed: 34290801
DOI: 10.12669/pjms.37.4.4229 -
International Journal of Environmental... Feb 2022Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder caused by various (epi)genetic alterations affecting the expression of genes on chromosome 11p15....
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder caused by various (epi)genetic alterations affecting the expression of genes on chromosome 11p15. Cardinal features include abdominal wall defects, macroglossia, and cancer predisposition. Several (epi)genotype-phenotype associations were described so far, but specific studies on the evolution over time of maxillo-facial phenotype in the molecular subtypes still are scanty. The aim of this cross-sectional study was to associate maxillo-facial morphology and growth pattern with genoype in 25 Caucasian children with BWS and macroglossia. Twelve patients experienced a loss of metilation at imprinting center 2 (IC2-LoM), five had mosaic paternal uniparental isodisomy of chromosome 11 (UPD(11)pat), and eight were negative. A more marked tongue enlargement was detected in patients with IC2-LoM and negative genotype, while UPD(11)pat children showed mild macroglossia ( = 0.048). A cluster analysis did not demonstrate any specific relationship between (epi)genotype and maxillo-facial phenotype, but separated BWS patients based on their cephalometric characteristics. Children with IC2-LoM or negative genotype displayed hyperdivergence values > 30°, clockwise growth tendency, and skeletal class II into the same cluster. They had a negative prognostic score. These preliminary data suggest the need for developing individualized protocols for early monitoring of the craniofacial growth in such patients.
Topics: Beckwith-Wiedemann Syndrome; Cross-Sectional Studies; DNA Methylation; Genetic Association Studies; Genomic Imprinting; Humans; Male; Phenotype
PubMed: 35206635
DOI: 10.3390/ijerph19042448 -
Journal of Infection and Public Health Jan 2022SARS-CoV-2 infection can lead to a variety of clinical manifestations. The occurrence of tongue swelling has recently reported in severe cases of COVID-19, and...
SARS-CoV-2 infection can lead to a variety of clinical manifestations. The occurrence of tongue swelling has recently reported in severe cases of COVID-19, and angioedema has suggested as the causative mechanism. Several factors, such as genetic predisposing factor and angiotensin-converting enzyme inhibitors (ACEI) therapies, have proposed to induce angioedema, especially as concerns patients requiring ICU treatments. Nevertheless, the question is still debated and other causes not yet recognized should be considered. Here we present a case of macroglossia occurred in a patient deceased for COVID-19 disease, who had no family history of angioedema and did not receive ACEI as antihypertensive drug. Histological and immune-histochemical analysis revealed tongue muscle atrophy with infiltrating macrophages suggesting repair mechanisms, as seen in nerve injury recovery. These new pathological findings may open new fields of study on the pathogenesis of SARS-CoV-2.
Topics: Angioedema; Angiotensin-Converting Enzyme Inhibitors; COVID-19; Humans; Macroglossia
PubMed: 34764043
DOI: 10.1016/j.jiph.2021.10.026 -
Proceedings (Baylor University. Medical... Jan 2019Presented here are two cases of acute acquired macroglossia in adults caused by angioedema resulting from a reaction to angiotensin-converting enzyme inhibitors (ACEIs)....
Presented here are two cases of acute acquired macroglossia in adults caused by angioedema resulting from a reaction to angiotensin-converting enzyme inhibitors (ACEIs). Angioedema can be caused by a variety of factors, but ACEIs are the most common precipitating factor. Symptoms such as swelling of the lips, face, tongue, and throat can lead to life-threatening airway compromise. Early management of acute angioedema and macroglossia includes antihistamines, steroids, and occasionally epinephrine, yet a small percentage of patients progress toward airway obstruction and will require intubation. Edema within the lips, face, and throat usually subsides within a week, but the tongue can remain edematous for prolonged periods if biting trauma occurs. If the patient's macroglossia does not resolve in a reasonable amount of time, a partial glossectomy may be indicated.
PubMed: 30956587
DOI: 10.1080/08998280.2018.1540736