CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty.

We report a case of CHARGE syndrome with atypical phenotype and a novel mutation in the CHD7 gene. Laryngomalacia and swallowing difficulties are prominent features in this case. These are commonly found in patients with CHARGE syndrome and are well described in previous studies. However, with the traditional diagnostic criteria, diagnosis is difficult without the presence of coloboma or choanal atresia. Early diagnosis is possible with the aid of clinical genetics. The current diagnostic criteria would need to be broadened with the inclusion of pathogenic CHD7 variant status as a major criterion. Further research on the function of CHD7 gene may also give us more insight on the pathogenic mechanism of various clinical features of CHARGE syndrome.

Differential diagnosis and management of adult-onset laryngomalacia.

OBJECTIVE: Adult-onset laryngomalacia is a rare clinical entity that has been infrequently reported. This study aims to evaluate the clinical presentation, diagnosis, and management of adult-onset laryngomalacia through literature review and report of a case. METHODS: PubMed and Google Scholar databases were queried for articles published from 1960 to 2019 including only patients aged 18 years and older. Included keywords were: 'laryngomalacia', 'adult laryngomalacia', 'acquired laryngomalacia', 'idiopathic laryngomalacia', 'laryngeal obstruction', 'floppy epiglottis', 'floppy epiglottis', and 'epiglottis prolapse'. Data extracted from literature included clinical presentation, diagnostic workup, surgical management, and follow-up care. SOURCES: PubMed and Google Scholar. RESULTS: A total of 21 articles reported 41 cases of adult-onset laryngomalacia. Within these cases, 5 etiologies were identified: neurologic (n = 14), exercise-induced (n = 9), post-operative (n = 7), idiopathic (n = 7), and age-related (n = 4) laryngomalacia. Anterior prolapse of arytenoids and aryepiglottic folds was the most common laryngoscopic finding (n = 21), followed by posterior epiglottic prolapse (n = 20). Management included supraglottoplasty (n = 14), epiglottidectomy (n = 8) or epiglottopexy (n = 2). Neurologic etiology required tracheotomy more often than the other etiologies (n = 5, 36% vs. 15%). Three patients were managed expectantly without surgical intervention and reported symptom resolution. CONCLUSION: Adult laryngomalacia is a rare diagnosis comprising a spectrum of disease. This diagnosis may be overlooked, but association with neurologic injury or trauma should encourage consideration. In comparison to pediatric laryngomalacia, patients often require surgical intervention. Surgical decision is based on the direction of supraglottic collapse, where supraglottoplasty and partial epiglottidectomy are effective interventions. LEVEL OF EVIDENCE: N/A.

Carbon dioxide laser versus cold-steel supraglottoplasty: A comparison of post-operative outcomes.

OBJECTIVE: Supraglottoplasty is the mainstay of surgical treatment for laryngomalacia, and is commonly performed via two methods: cold steel or carbon dioxide (CO2) laser. The degree of post-operative monitoring following supraglottoplasty varies, both within and between institutions. The aim of this study was to compare the post-operative monitoring and interventions required by patients undergoing cold-steel versus CO2 laser supraglottoplasty. DESIGN: Retrospective cohort of pediatric patients (age < 18 years) undergoing supraglottoplasty at a tertiary care pediatric hospital. The primary exposure was the surgical instrument(s) used during supraglottoplasty. The primary outcome was prolonged intensive care unit (ICU)-stay (defined as >24 h). RESULTS: 155 cases were eligible for inclusion. Fifty-eight (37.4%) patients had a comorbid condition. Common indications for surgery included feeding difficulty (56.1%), severe respiratory distress (33.5%), and obstructive sleep apnea (25.2%). CO2 laser was employed in 49 cases and cold-steel in 106 cases. Prolonged ICU-stay (>24 h) was observed in 14 CO2 laser cases (28.6%) and 11 cold-steel cases (10.4%) (adjusted OR 3.42; 95% CI 1.43, 8.33). CO2 laser cases were more likely to require post-operative intubation, non-invasive positive pressure ventilation, and nebulized racemic epinephrine. Concomitant neurological condition was associated with an increased risk of prolonged ICU-stay, while extent of surgery and age were not. CONCLUSIONS: CO2 laser supraglottoplasty is associated with an increased risk of prolonged ICU-stay and need for ICU-level airway intervention, compared to the cold-steel technique. While this association should not be misconstrued as a causal relationship, the current study demonstrates that specific surgical factors may influence the patient monitoring requirements following supraglottoplasty, particularly the choice of instrument and the extent of surgery.

Decoding supraglottic stenosis.

OBJECTIVE: Supraglottic stenosis (SPGS) is a rare condition and little is known about its optimal management. Its etiologies are varied and depend on the age group. Here, we review our institution's series of patients and propose treatment strategies for SPGS. METHODS: SPGS patients between 2013 and 2019 were retrospectively reviewed. We recorded their demography, clinical data and endoscopy. The patients were treated with either an endoscopic, open or a combined approach. Subsequently, we reviewed photo and video documents, medical sheets and long-term follow-up charts. RESULTS: The report includes 14 children having a mean age of 5.7 years (range 2 months-13 years). Seven children had undergone prior supraglottoplasty for laryngomalacia, three children had blunt neck trauma and four had iatrogenic plus post-intubation etiology. Five children received endoscopic treatment and are currently symptom free. Four patients received a combined repair with satisfactory results. Five children received an open repair, four of which are decannulated and feed orally without aspiration. Most children in this group required additional endoscopic interventions. CONCLUSION: Post supraglottoplasty stenosis can be treated optimally by an endoscopic approach. More severe supraglottic cicatrical sequelae with posterior glottic involvement may require a combined endoscopic and open approach. Transglottic stenoses with severe grades of multi-level stenoses require an extended cricotracheal resection.

Neurologically acquired laryngomalacia in a pediatric patient with Moyamoya: A case report and literature review.

Acquired laryngomalacia in the pediatric population is rare, especially from a neurogenic cause. This case report describes a pediatric patient who developed laryngomalacia following a neurologic insult. A proposed physiologic pathway is reviewed. A thorough literature review was performed to identify cases of acquired laryngomalacia ascribed to a neurologic cause and are compared to this case.

Vallecular cyst in the pediatric population: Evaluation and management.

OBJECTIVE: To review the presentation of pediatric vallecular cysts and outline an approach for evaluation and management. METHODS: Medical records of patients diagnosed with vallecular cyst between 2005 and 2017 were reviewed. Data on demographics, clinical characteristics, diagnostic methods, surgical procedures, and outcomes were collected and analyzed. A comprehensive literature search for pediatric cases of vallecular cyst was conducted for comparative analysis. RESULTS: Twenty patients underwent surgery for congenital vallecular cysts during the study period. Age at diagnosis ranged from birth to 8 years (median age = 1.1 years). The most common preoperative symptom was inspiratory stridor (45%) followed by feeding difficulties (40%). Eight patients (40%) initially presented with laryngomalacia and 7 (35%) with feeding difficulties. Imaging was obtained in 16 patients and consisted of plain films, ultrasound, computed tomography (CT), or magnetic resonance imaging (MRI). Marsupialization of the cyst was performed in all 20 patients. Three patients (15%) presented with recurrence. CONCLUSION: Vallecular cysts can cause feeding difficulties due to upper airway obstruction and pressure at the laryngeal inlet. Diagnostic work-up for vallecular cysts should include a detailed medical history, complete head and neck examination including endoscopic examination, and appropriate imaging, as each of these components complements the histopathologic findings. Our findings indicate that performing marsupialization is associated with low rate of recurrence or complication.

Laryngomalacia in Patients With Craniosynostosis.

OBJECTIVE: To characterize differences in the clinical presentation and treatment outcomes of laryngomalacia in patients with and without craniosynostosis. METHODS: A retrospective cohort study was performed comparing all patients with concomitant laryngomalacia and craniosynostosis seen at a tertiary care children's hospital between 2000 and 2016 with a control group of patients with isolated laryngomalacia. Thirty-two patients with craniosynostosis (59% male) and 68 control patients (56% male) were included. There were no significant differences in age of diagnosis or incidence of prematurity. Symptom presentation, disease severity, swallowing function, comorbidities, treatment modalities, and outcomes were examined using logistic regression. RESULTS: Patients with craniosynostosis had increased odds of presenting with stertor (odds ratio [OR] = 3.41, P = .022), increased work of breathing (OR = 18.8, P = .007), obstructive sleep apnea (OR = 8.48, P = .003), dysphagia (OR = 3.40, P = .008), and aspiration (OR = 40.2, P < .001) and decreased odds of presenting with stridor (OR = 0.0804, P < .001) compared with controls. Patients with craniosynostosis had increased odds of severe laryngomalacia (OR = 5.00, P = .031) and other airway anomalies such as tracheomalacia (OR = 5.73, P = .004), bronchomalacia (OR = 15.5, P = .013), and subglottic stenosis (OR = 2.75, P = .028). Treatment of patients with craniosynostosis was more likely to include tracheostomy (OR = 24.8, P < .001) and gastrostomy tube (OR = 88.4, P < .001). There were no significant differences in rates of supraglottoplasty. CONCLUSION: Clinical presentations, comorbidities, and treatments of laryngomalacia are significantly different in the context of craniosynostosis.

Hold your horses: A comparison of human laryngomalacia with analogous equine airway pathology.

OBJECTIVES: Laryngomalacia is the most common cause of stridor in infants. Dynamic airway collapse is also a well-recognised entity in horses and an important cause of surgical veterinary intervention. We compare the aetiology, clinical features and management of human laryngomalacia with equine dynamic airway collapse. METHODS: A structured review of the PubMed, the Ovid Medline and the Cochrane Collaboration databases (Cochrane Central Register of Controlled Trials, Cochrane Database of Systemic Reviews). RESULTS: There are numerous equine conditions that cause dynamic airway collapse defined specifically by the anatomical structures involved. Axial Deviation of the Aryepiglottic Folds (ADAF) is the condition most clinically analogous to laryngomalacia in humans, and is likewise most prevalent in the immature equine airway. Both conditions are managed either conservatively, or if symptoms require it, with surgical intervention. The operative procedures performed for ADAF and laryngomalacia are technically comparable. CONCLUSION: Dynamic collapse of the equine larynx, especially ADAF, is clinically similar to human laryngomalacia, and both are treated in a similar fashion.

Postoperative Stridor following Repair of Tracheoesophageal Fistula: A Case Report.

We report a case of prolonged post-operative stridor in a full-term neonate who was operated for tracheoesophageal fistula. Initial evaluation including an endoscopy and contrast-enhanced computed tomography scan was normal. Repeat endoscopic evaluation under anesthesia revealed tight aryepiglottic folds. Aryepiglottic split was performed and stridor improved dramatically. Tight aryepiglottic folds should be kept in differential diagnosis in a case of postoperative stridor in an infant.

Relative imbalance as etiology of laryngomalacia - A new theory.

Laryngomalacia literally means weak larynx. It is the most common cause of noisy breathing in infants and children constituting around 70% of cases. Its aetiology is not clear and various theories are proposed. Treatment remains following the child with regular weight monitoring in view of expected spontaneous resolution. However we cannot predict which child will resolve spontaneously and which child may need surgical intervention. We propose a new theory based on relative imbalance of demand supply of air, suggesting the increase in demand causing turbulent airflow, increasing suction pressure and causing collapse of laryngeal structures. This theory also helps us in predicting early, which child will resolve spontaneously and which child will need surgery. The methodology to evaluate hypothesis along with techniques and tools are also suggested.

Topical Lidocaine Does Not Exaggerate Laryngomalacia in Infants During Flexible Bronchoscopy Under Propofol Anesthesia.

BACKGROUND: Topical lidocaine has been found to result in overestimation of the severity of laryngomalacia in infants undergoing flexible bronchoscopy under conscious sedation with midazolam and nalbuphine. This effect has never been confirmed and may depend on the level of sedation and the drugs used. We assessed the effect of topical lidocaine on laryngomalacia in infants undergoing flexible bronchoscopy under general anesthesia with propofol. METHODS: Thirteen infants with congenital stridor referred to diagnostic flexible video-bronchoscopy were studied under propofol anesthesia before and 3 minutes after topical lidocaine administration to the larynx at a dose of 3 mg/kg body weight. Laryngomalacia was scored using 60 seconds video recordings of the larynx before and after lidocaine administration in random order by 2 independent blinded observers using the previously described arytenoid score (AS), epiglottis score (ES), and the total score (TS=AS+ES). RESULTS: No significant differences in AS, ES, and laryngomalacia score were found between the prelidocaine and postlidocaine assessments by the 2 raters. The intraclass correlation coefficients were 0.995 (95% confidence interval, 0.986-0.998) and 0.975 (0.930-0.991) and 0.989 (0.971-996) for AS, ES, and TS, respectively. CONCLUSIONS: The assessment of laryngomalacia is not affected by topical lidocaine under propofol anesthesia. The lidocaine effect on laryngomalacia may vary depending on the medication regime used and the depth of procedural sedation.

Usefulness of Upper Airway Endoscopy in the Evaluation of Pediatric Pulmonary Aspiration.

IMPORTANCE: There is no consensus on the evaluation of pediatric patients with aspiration. OBJECTIVES: To determine the yield of direct laryngoscopy and bronchoscopy (DLB) using general anesthesia in pediatric patients who aspirate and to identify clinical predictors of aspiration-related airway lesions. DESIGN, SETTING, AND PARTICIPANTS: Retrospective review at a tertiary referral children's hospital. A medical record review was performed on all patients with a documented diagnosis of pulmonary aspiration who underwent DLB using general anesthesia during a 5-year period (January 2010 to December 2014). INTERVENTION: Direct laryngoscopy and bronchoscopy using general anesthesia. MAIN OUTCOMES AND MEASURES: Data were collected and analyzed, including age, sex, history of intubation, flexible laryngoscopy results, DLB findings, recurrent pneumonia, and associated diagnoses. RESULTS: Five hundred thirty-two patients met the inclusion criteria. Their mean (SD) age was 2.2 (3.6) years (age range, 0.1-25.0 years), with more than half younger than 1 year. Sixty-two percent (328 of 532) of the participants were male. Flexible laryngoscopy examination alone identified 93 patients with an airway lesion. Direct laryngoscopy and bronchoscopy identified 173 additional diagnoses and had a greater diagnostic yield for airway lesions (45.1% [240 of 532]) than flexible laryngoscopy examination alone (P < .001). Patients with an aspiration-related airway lesion were older (mean [SD] age, 2.7 [3.8] vs 2.2 [3.8] years; P = .02) and more likely to have another aerodigestive disorder than were patients without an airway lesion (21.7% vs 11.6%; P = .004). Older age (adjusted risk ratio [95% CI], 1.37 [1.08-1.73]; P = .01), recurrent pneumonia (1.40 [1.11-1.76]; P = .004), and history of intubation (1.35 [1.07-1.70]; P = .01) were significantly associated with the presence of an aspiration-related airway lesion in the multivariable model. Patients with an aspiration-related airway lesion were less likely to have neurologic disease than were patients without an airway lesion (0.50 [0.34-0.73]; P < .001). In all, 66.3% of patients (110 of 166) eventually underwent surgical repair of an identified aspiration-related airway lesion. CONCLUSIONS AND RELEVANCE: In children with chronic aspiration who warrant further evaluation, flexible laryngoscopy alone is not sufficient. There is a high incidence of aspiration-related airway lesions identified on DLB and not seen on flexible laryngoscopy, with 66.3% (110 of 166) of those lesions eventually requiring surgical intervention. Patients 1 year or older with a history of recurrent pneumonia or intubation are more likely to have an aspiration-related airway lesion.

Congenital laryngomalacia is related to exercise-induced laryngeal obstruction in adolescence.

OBJECTIVES: Congenital laryngomalacia (CLM) is the major cause of stridor in infants. Most cases are expected to resolve before 2 years of age, but long-term respiratory prospects are poorly described. We aimed to investigate if CLM was associated with altered laryngeal structure or function in later life. METHODS: Twenty of 23 (87%) infants hospitalised at Haukeland University Hospital during 1990-2000 for CLM without comorbidities and matched controls were assessed at mean age 13 years. Past and current respiratory morbidity was recorded in a questionnaire, and spirometry performed according to standard quality criteria. Laryngoscopy was performed at rest and continuously throughout a maximal treadmill exercise test (continuous laryngoscopy exercise test (CLE-test)), and scored and classified in a blinded fashion according to preset criteria. RESULTS: In the CLM group, laryngeal anatomy supporting CLM in infancy was described at rest in nine (45%) adolescents. Eleven (55%) reported breathing difficulties in relation to exercise, of whom 7 had similarities to CLM at rest and 10 had supraglottic obstruction during CLE-test. Overall, 6/20 had symptoms during exercise and similarities to CLM at rest and obstruction during CLE-test. In the control group, one adolescent reported breathing difficulty during exercise and two had laryngeal obstruction during CLE-test. The two groups differed significantly from each other regarding laryngoscopy scores, obtained at rest and during exercise (p=0.001 or less). CONCLUSIONS: CLM had left footprints that increased the risk of later exercise-induced symptoms and laryngeal obstruction. The findings underline the heterogeneity of childhood respiratory disease and the importance of considering early life factors.

Mandibular distraction for Robin sequence associated with laryngomalacia.

INTRODUCTION: Protocols for the treatment of Robin sequence (RS) consider the presence of laryngomalacia as a contraindication to mandibular distraction osteogenesis (MDO). The authors report their institutional experience of MDO applied to infants with RS and associated laryngomalacia. METHODS: An 8-year (2005-2013) retrospective review of all infants with RS and laryngomalacia who underwent MDO at a tertiary care children's hospital was performed. Patients were excluded if they possessed an airway anomaly other than laryngomalacia. Laryngomalacia was identified on laryngoscopy before MDO. Laser supraglottoplasty was performed at the discretion of the otolaryngologist. Recorded variables included preoperative and postoperative AHI, syndromic diagnosis or genetic anomalies, cardiac, central nervous system (CNS), and gastrointestinal (GI) abnormalities. The primary outcomes measured were avoidance or decannulation of tracheostomy and decrease in postoperative AHI. RESULTS: Eleven infants met inclusion criteria. Mean follow-up was 28 months. 18.2% of patients had a syndromic diagnosis, 36.4% cardiac, 9.1% CNS, and 72.7% GI abnormalities. Mean preoperative AHI was 46.1 ± 31.8 and mean postoperative AHI was 4.1 ± 3.0 (P = 0.002). All patients without a tracheostomy before intervention avoided tracheostomy after MDO. One patient had a tracheostomy before MDO and was subsequently decannulated. One patient died 1 year after MDO due to complex congenital heart disease. CONCLUSIONS: Infants with RS and laryngomalacia can be successfully treated with MDO to relieve upper airway obstruction. Close cooperation with a pediatric otolaryngologist and treatment of laryngomalacia can significantly enhance tracheostomy avoidance in infants with Robin sequence.

Airway statuses and nasopharyngeal airway use for airway obstruction in syndromic craniosynostosis.

Syndromic craniosynostosis is associated with a high rate of respiratory difficulty, due mainly to midfacial hypoplasia. Nasopharyngeal airway establishment has been reported as the first-line approach to airway obstruction and may obviate the need for a highly invasive tracheotomy. No previous studies have compared airway obstruction status in syndromic craniosynostosis between cases requiring and not requiring airway managements. We focus on nasopharyngeal airway use and airway status outcomes to assess respiratory difficulty in patients with syndromic craniosynostosis. A retrospective data analysis of 51 cases with syndromic craniosynostosis was carried out. We divided 30 of the 51 cases with lateral pharyngeal x-rays taken before operations affecting airway diameters into 2 groups, one with neither nasopharyngeal airway insertion nor tracheotomy and the other with one or both of these interventions, and the mean diameters for 8 indices related to the pharyngeal space were compared. Cases with respiratory difficulty due to nasopharyngeal stenosis and requiring airway managements comprised a significantly higher proportion of those with Pfeiffer syndrome than patients with Crouzon or Apert syndrome. Comparative examination of lateral x-ray cephalometry between cases with neither nasopharyngeal airway insertion nor tracheotomy and cases with one or both revealed oropharyngeal diameters tended to be smaller in those with interventions. Cases requiring nasopharyngeal airway insertion were able to continue nasopharyngeal airway use for more than 1 year and a considerable number avoided tracheotomy. It may be worth considering an oropharyngeal-bypass nasopharyngeal airway before performing a tracheotomy.

Adult-onset laryngomalacia: case reports and review of management.

Laryngomalacia is a dynamic airway condition characterised by inward collapse of flaccid supraglottic structures during inspiration. Although the most common cause of stridor in the paediatric population, adult-onset laryngomalacia remains a rare entity and its management, challenging. Two cases of adult-onset laryngomalacia are reported. A review of the English literature is performed and additional publications identified by hand-searching relevant papers; 13 case reports/series comprising 28 cases of adult-onset laryngomalacia were identified, divided into two main groups: idiopathic (6/28) and acquired (22/28). The aetiology of the acquired form includes neurological, traumatic and iatrogenic. Reported therapeutic measures used are laser supraglottoplasty, epiglottopexy, partial epiglottidectomy, defunctioning tracheostomy and intubation whilst correcting the underlying cause. The majority of patients only required one therapeutic procedure (follow-up of 2-24 months). A strong index of suspicion is required to diagnose adult-onset laryngomalacia aided by in-office laryngoscopy. The rarity of this condition prevents management-based randomised controlled trials.

Exercise-induced vocal cord dysfunction and exercise-induced laryngomalacia in children and adolescents: the same clinical syndrome?

BACKGROUND: Exercise-induced respiratory symptoms associated with paradoxical laryngeal motion are relatively common and often mistaken for asthma. Exercise-induced vocal cord dysfunction (VCD) and exercise-induced laryngomalacia (LM) have been described separately in the literature but have never been systematically compared. OBJECTIVE: To compare subjects with a confirmed diagnosis of exercise-induced VCD or exercise-induced LM by performing a retrospective chart review of subjects who had symptoms provoked by a free running exercise challenge and documented concurrent paradoxical laryngeal motion. METHODS: Demographic and clinical characteristics were analyzed in patients with confirmed paradoxical motion of the vocal cords (VCD) and those with paradoxical arytenoid motion without abnormal vocal cord movement (LM) during symptoms. RESULTS: Sixty subjects with exercise-induced LM and 83 subjects with exercise-induced VCD were identified. Subjects with confirmed exercise-induced VCD were slightly older, had a higher body mass index, and higher grade point averages compared with subjects with exercise-induced LM without abnormal vocal cord movement. There were no differences in sex distribution, presenting symptoms, reported aggravating factors other than exercise, atopic status, confirmed bronchospasm during symptoms, mean number of asthma controller medications at time of evaluation, level of athletic competition, reported history of acid reflux, reported history of psychiatric disorders, baseline lung function, or lung function during symptoms. Most subjects were not "elite" athletes and did not have a history of anxiety or depression. CONCLUSION: There were remarkably few differences between subjects with exercise-induced VCD and those with exercise-induced LM. Prospective controlled studies are needed to determine whether exercise-induced VCD and exercise-induced LM are in fact distinct syndromes.

[Paediatric laryngotracheal stenosis]. / Laryngotracheale Stenosen im Kindesalter.

Laryngotracheal stenosis in infancy and childhood is challenging in many aspects. Diagnosis and therapy require specific expertise and must be tailored to the individual case. The most important presentations of airway pathology in children are presented in this paper. Conservative, endoscopic and surgical treatment options are discussed. Laryngomalazia is the most frequent condition of supraglottic stenosis. The term supraglottoplasty summarizes all different techniques used for it's repair using an endoscopic approach.Glottic stenosis is rare in children. Usually a compromise between voice preservation and airway restoration has to be sought. Type of reconstruction and timing are varying considerably in individual cases, endoscopic approaches should be preferred.Subglottic stenosis remains the largest group in paediatric airway pathology, with cicatrial stenosis being predominant. Today, cricotracheal resection is the most successful treatment option, followed by the classical laryngotracheal reconstruction with autologous cartilage. In early infancy subglottic stenosis is particularly demanding. Endoscopic treatment is possible in selected patients, but open reconstruction is superior in more severe cases. Subglottic stenosis in children requires expertise and experience in diagnosis and treatment. Considering the limited incidence these cases should be managed in a referral center.