Bardet-Biedl syndrome presenting with laryngeal web and bifid epiglottis.

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by rod-cone dystrophy, obesity, postaxial polydactyly, cognitive impairment, hypogonadism, renal abnormalities, and rarely, laryngeal webs or bifid epiglottis. Most patients present with obesity. Multiple genes are involved in causation of BBS and there is also evidence of triallelic inheritance. We herein report an Asian boy who had weak cry and stridor since birth, and on evaluation was found to have both laryngeal web and bifid epiglottis. Mutation analysis revealed a homozygous variant in BBS10 gene.

Neonatal Lateral Epiglottic Defects.

INTRODUCTION: Multiple congenital abnormalities of the epiglottis have been reported and iatrogenic injuries to the larynx and subglottis are well known. We present a new pattern of defect not previously reported in the literature. METHODS: Epiglottic abnormalities at two institutions are reviewed. Cases of defects involving the lateral aspect of the epiglottis and aryepiglottic fold are identified. A literature review of known epiglottic defects is performed. RESULTS: Two children possessing lateral notch injuries at the aryepiglottic attachment to the epiglottis are described. Both children have a history of multiple laryngeal instrumentation attempts and prolonged intubation. Both have swallowing difficulties and are gastrostomy dependent. Congenital epiglottic defects include aplasia and midline bifidity, however, no lateral congenital epiglottic defects have been reported. CONCLUSION: Epiglottic defects, while rare, should be part of the differential for children with aspiration and feeding difficulties. A new pattern of defect is described and iatrogenic etiology proposed.

Epiglottic aplasia in an infant with Joubert syndrome.

Congenital aplasia of the epiglottis is a rare condition with variable presentation ranging from respiratory distress requiring surgical airway to an asymptomatic finding. Epiglottic aplasia is presumed to be caused by arrest of development of laryngeal structures and is most commonly associated with syndromic conditions, though isolated episodes of aplasia of the epiglottis do exist. In this report, we present a term infant with multiple congenital anomalies who was noted to have a hoarse cry prompting laryngoscopy. This showed complete absence of the epiglottis. Subsequent genetic testing showed mutations in the CPLANE1 gene that is associated with Joubert syndrome. Our patient was able to be discharged home on a thickened formula diet and is eating and gaining weight appropriately. Here, we present a review of the currently available literature of other cases of congenital epiglottic aplasia or hypoplasia discussing the presentation, management and outcomes in these cases.

SMARCE1-related Coffin-Siris Syndrome: Case report and otolaryngologic manifestations of the syndrome.

Coffin-Siris Syndrome (CSS) is a genetic syndrome associated with multiple congenital anomalies due to mutations in the BAF-complex or SOX gene. Although well characterized overall, the subunits of the BAF-complex or SOX gene affected demonstrate phenotypic differences which are continuing to be defined. Among the variants is the SMARCE1 mutation, the least common identified genotype. This case report presents a pediatric patient with SMARCE1-related CSS, the seventh case reported in the literature. The congenital anomalies are discussed and compared to the reported cases of SMARCE1-related CSS and CSS overall with an emphasis on otolaryngologic manifestations.

Association of bifid epiglottis and laryngeal web with Bardet-Biedl syndrome: A case report.

Bardet-Biedl syndrome (BBS) is a rare autosomal-recessive disease characterized by rod-cone dystrophy, obesity, postaxial polydactyly, cognitive impairment, hypogonadism and renal abnormalities. Bifid epiglottis and anterior laryngeal web are rare congenital anomalies and are often constituent of polymalformation syndromes. We report a case of a 9-month-old patient initially referred in otolaryngology (ENT) for dysphonia and recurrent respiratory infections. Physical exam and fiberoptic nasopharyngolaryngoscopy showed bifid epiglottis and laryngeal web associated with BBS. Those laryngeals anomalies may be underdiagnosed in BBS and this case supports the importance of upper airway evaluation by an ENT team, especially with respiratory symptoms or dysphagia.

Epiglottis shape as a predictor of obstruction level in patients with sleep apnea.

PURPOSE: Despite a broad range of diagnostic methods, identifying the site of obstruction in the upper respiratory tract in patients with obstructive sleep apnea is not always simple and straightforward. With regard to this problem, we present our observations about the specific shape of the epiglottis in patients with obstruction at the level of the tongue base and/or epiglottis. METHODS: One hundred and forty consecutive drug-induced sleep endoscopy (DISE) video recordings of patients with polygraphy-verified obstructive sleep apnea were analyzed by three independent observers. We compared the levels of obstruction using the VOTE classification and the shape of the epiglottis, both as seen during the DISE investigation and in the awake state. We have calculated the interrater reliability for VOTE classification results and epiglottis shape evaluation by three different observers. RESULTS: Out of 140 patients, there were 52 (37.1%) with a flat epiglottis. Within this group, there were only 3 (6%) cases in which obstructions at the tongue base and/or epiglottis level were not found. In the group with normally convex and omega-shaped epiglottis, obstruction at the tongue base level was observed in 28 patients (31.8%); obstruction at the epiglottis level was observed in 5 patients (5.7%); and obstruction at both the epiglottis and tongue base level was observed in 3 patients (3.4%). Interrater reliability for VOTE classification was poor for V (ICC = 0.414) and good for O (ICC = 0.824), T (ICC = 0.775), and E (ICC = 0.852). Additionally, interrater reliability was excellent for epiglottis shape (ICC = 0.912). CONCLUSION: In patients with obstructive sleep apnea, examinations in the awake state and drug-induced sleep endoscopy both showed that in most cases of obstruction at epiglottis and/or tongue base, the epiglottis was flat, i.e., lacking the typical anterior convexity in its upper part. We assume that the change of its shape is a result of degeneration of suspensory apparatus that maintains the shape of the epiglottis and holds it in its position. This could contribute to the better identification of patients with a narrowing at this level, and in turn to better decisions regarding the choice of the most suitable treatment.

A Case Report of Absent Epiglottis in Children With Nager Syndrome: Its Impact on Swallowing.

OBJECTIVE: This clinical report is the first literature report exploring the issues of an absent epiglottis in children diagnosed with Nager syndrome. Absent epiglottis has previously been described in children with Pierre Robin sequence and other syndromes. CONCLUSION: The function of the epiglottis and its contribution to swallowing has always been debated. In this article and from our literature review, we felt that absent epiglottis possibly contributed to the aspiration risk and may partly explain the long-term feeding issues in these children despite corrective surgeries.

Isolated epiglottic lymphatic malformation in a 2-year-old: Diagnosis and treatment.

Airway obstruction in children has a wide differential diagnosis that includes laryngomalacia, infectious processes, paralysis, extrinsic compression, and other rare anatomic anomalies. Isolated laryngeal lymphatic malformations are rare developments that can manifest with clinically significant airway obstruction. To the best of our knowledge, there have been fewer than 20 reported cases. These laryngeal mucosal lesions are best managed with radiofrequency ablation or laser ablation. We present a case of a 2-year-old child who presented with airway obstruction, initially diagnosed with laryngomalacia, who was subsequently diagnosed and treated for an isolated epiglottic lymphatic malformation.

Congenital aplasia/hypoplasia of the Epiglottis-A case report and a review of the literature.

IMPORTANCE: There are two clinically significant congenital anomalies of the epiglottis, aplasia and hypoplasia. Early mortality in aplasia is significantly higher than in hypoplasia. Early aggressive intervention may improve outcomes. An approach to diagnosis, treatment and outcomes is discussed. METHODS: A case of congenital aplasia of the epiglottis and a review of the literature of all the cases previously described is presented. OBSERVATIONS: A male newborn underwent microlaryngotracheobronchoscopy (MLTB) due to stridor and difficulty in establishing oral feeds and was diagnosed with congenital aplasia of the epiglottis. He has not required tracheostomy and at 11 months of follow-up is gastrostomy fed and thriving. 9 cases of aplasia and 19 cases of hypoplasia have been described previously. The difference between aplasia and hypoplasia is established based on the clinical appearance at endoscopic examination. CONCLUSIONS AND RELEVANCE: Congenital aplasia and hypoplasia of the epiglottis are rare congenital laryngeal anomalies and the majority are associated with a syndrome. Early diagnosis and management in the form of fundoplication/gastrostomy and tracheotomy when required may improve outcomes.

Influence of pharyngolaryngeal anomalies diagnosed through indirect laryngoscopy in the prediction of difficult intubation.

OBJECTIVE: To determine the pharyngolaryngeal anomalies not usually included in the evaluation of difficult airway, in order to investigate the influence of these anomalies in the prediction of difficult intubation. To do this, indirect laryngoscopy with a 70° rigid laryngoscope was performed on all patients during the preoperative period. METHODS: This is an observational, prospective study on 300 consecutive patients who were scheduled for endotracheal intubation under general anesthesia. In addition to assessing the airway in the preoperative period by demographic and clinical predictors of difficult airway, rigid indirect laryngoscopy was performed to diagnose pharyngolaryngeal anomalies. Later, under general anesthesia and direct laryngoscopy it was checked to see if there was difficulty in intubating the larynx, and its association with all previous variables was investigated. A logistic regression model for prediction purposes was developed, and its power of discrimination was achieved by assessing the area under the curve. RESULTS: During the examination by indirect laryngoscopy 46 anomalies were found, which were as follows: 31 abnormalities of the epiglottis (22 omega epiglottis, 9 flaccid or hypertrophic epiglottis); 6 findings of hypertrophic lingual tonsils, 3 cases of upper airway tumors, and 6 patients with tongue disorders. Intubation difficulty was found in 14 cases (4.66%). The regression model found, and its coefficients to develop it were: f(x)=1.322+(2.173 thyromental distance <6.5 cm)+(1.813 omega epiglottis)-(1.310*cm opening mouth). Global power of discrimination was 0.83, with a 95% confidence interval from 0.709 to 0.952). CONCLUSION: Indirect laryngoscopy allowed pharyngolaryngeal anomalies to be diagnosed, including omega epiglottis, which was one of the variables included in the logistic regression model.

A case of congenital aplasia of the epiglottis in an adult.

Aplasia or hypoplasia of the epiglottis in an adult is rarely reported congenital anomaly of the larynx. Most patients with epiglottic aplasia have presented fatal symptom of respiratory distress and severe aspiration in infancy or childhood. We present a case of congenital absence of the epiglottis found in a 33-year-old woman complaining of recurrent lingual tonsillitis. Laryngoscopic finding and CT scan revealed an isolated epiglottic aplasia and normal appearance of other laryngeal structure. This is the first description of physiologic evaluation in an epiglottic anomaly to find the compensatory mechanism of aspiration prevention. We discussed this case with a review of literature.

Characteristics of patients undergoing supraglottoplasty for laryngomalacia.

OBJECTIVE: To examine the characteristics of patients undergoing supraglottoplasty for the treatment of laryngomalacia and to better understand the features of laryngomalacia that may predispose patients to the need for supraglottoplasty. METHODS: Review of patients who underwent supraglottoplasty for laryngomalacia at our academic tertiary care children's hospital between 2005 and 2012 examining demographic information, medical comorbidities, symptoms, indications for surgery, operative findings and procedure, site of laryngeal obstruction, operative techniques, and surgical success rates. RESULTS: Seventeen patients with laryngomalacia underwent nineteen procedures. The most common indications for supraglottoplasty were persistent stridor beyond 18 months of age (64.7%), difficulty feeding (47%), and failure to thrive (29.4%). The most common comorbidities were gastroesophageal reflux (88.2%) and cardiopulmonary disease (35.3%). Operative findings included shortened aryepiglottic folds in sixteen patients (94.1%), retropositioned epiglottis in sixteen (94.1%), and prolapsed arytenoid mucosa in five (29.4%). Fifteen patients (88.2%) underwent division of the aryepiglottic folds and four underwent ablation of arytenoid mucosa (23.5%). Of the seventeen patients who had followed up at the time of study conclusion, sixteen (94.1%) had symptom improvement and twelve (70.6%) had complete resolution of their symptoms. CONCLUSIONS: Supraglottoplasty is an effective treatment for laryngomalacia. Outcomes in our patients are similar to those reported in prior literature. The findings of shortened aryepiglottic folds and a retropositioned epiglottis appear to be disproportionately represented in our cohort of patients undergoing supraglottoplasty.

Elective use of supraglottic airway devices for primary airway management in children with difficult airways.

BACKGROUND: Supraglottic airways (SGAs) have an established role in airway management of difficult airways in both adults and children. However, there are limited data regarding the use of SGAs for primary airway management in children. The aim of this study is to assess the success rates and adverse events related to the use of SGAs for primary airway management during anaesthesia in children with difficult airways. METHODS: A retrospective analysis of SGA use for primary airway management in the difficult airway population in a single centre over a 4-yr period was performed. Difficult airway was defined as either a history of difficult direct laryngoscopy (a documented Cormack and Lehane Grade 3 or greater and the need for an alternate device to direct laryngoscopy for successful tracheal intubation), a history of difficult mask ventilation, or both. The difficult airway condition, patient characteristic data, type and length of procedure, type and size of SGA placed, number of attempts for successful device placement, success/failure associated with the device during anaesthetic maintenance, and complications were recorded. RESULTS: A total of 77,272 children received general anaesthesia in a free-standing paediatric institution. Four hundred and fifty-nine patients were reported to have a difficult airway. Of those, 109 received general anaesthesia and an SGA for primary management, meeting the inclusion criteria for this study during a 4-yr period. An SGA was successfully used in 96% of these patients. In four patients, an alternative airway was needed. CONCLUSIONS: SGAs can be effectively utilized for airway maintenance in the paediatric difficult airway population.