Laryngeal Cleft Research Articles

Transoral robotic surgery for pediatric upper airway pathology: An institutional update

ObjectiveProvide an update on our institution's experience with utilizing transoral robotic surgery (TORS) in pediatric airway surgery and compare these results to surgery by traditional methods. MethodsPediatric patients who underwent TORS for treatment of upper airway pathology between 2010 and 2021 at our institution were retrospectively identified and compared to patients with the same or similar pathology who underwent a traditional (open or endoscopic) surgical approach over the same time period. Outcomes of interest included patient demographics, operative times, adverse events, hospital length of stay (LOS), and modified barium swallow (MBSS) results. ResultsForty children (19M, 21F) underwent 46 TORS procedures. Mean age was 6.4 years (range: 6 days-17 years). Most commonly treated pathology included: laryngeal clefts (LC) (n = 18), lymphatic malformations (n = 9), and base of tongue masses (n = 7). Surgical time was decreased in traditional type I LC repairs (mean: 111 vs 149 min, P = 0.04) and lymphatic malformation excisions (59 vs 120 min, p = 0.005). Hospital LOS was increased in TORS type I LC repairs (2.6 vs 1.2 days, P = 0.04). Adverse event rate was similar between TORS and traditional cohorts (17 % vs 16 % cases, P = 0.9). Postoperative MBSS results were improved for TORS type I LC repairs at 6 months (70 % vs 33 %, P = 0.09) and 12 months (82 % vs 43 %, P = 0.05). ConclusionsPediatric TORS is practical and safe and has comparable outcomes to traditional surgery. Robotic-assisted LC repair displayed improved postoperative swallow results versus traditional approaches and may be particularly useful in recurrent cases. Level of evidence3.

Aerodigestive evaluation of pediatric patients with chronic aspiration

ObjectiveTo evaluate the effectiveness of coordinated endoscopy with otolaryngology, pulmonology, and gastroenterology in diagnosing and managing chronic aspiration in pediatric patients. MethodsWe reviewed our REDCap Pediatric Aerodigestive Database for patients with chronic aspiration who underwent coordinated endoscopy between January 2013 and July 2023. Patient demographics, comorbidities, operative findings, interventions, and outcomes were reviewed. ResultsForty-nine patients were identified with a diagnosis of aspiration. Their mean (SD) age was 28 (36) months (range 1.2–163 months) with more than half of the patients younger than 24 months. The most common findings noted on combined endoscopies were laryngeal cleft (n = 30), positive bacterial culture (n = 18), positive viral PCR (n = 17), and active reflux-induced esophagitis/gastritis (n = 9). Patients with a positive bacterial culture were associated with a history of recurrent pneumonia (p = 0.009). There were no other significant associations between endoscopy findings and patient demographics, co-morbidities, or symptoms. Twenty-five (51 %) had multiple abnormalities identified by at least 2 different specialists at the time of endoscopy and 6 patients (12 %) had abnormalities across all three specialists. ConclusionCoordinated endoscopy should be considered in pediatric patients presenting with aspiration on MBS or non-specific symptoms suggestive for chronic aspiration for comprehensive diagnosis and management.

Indication and efficacy of injection laryngoplasty for laryngeal clefts - A retrospective cohort study

PurposeLaryngeal cleft (LC) is an anatomical defect of the larynx, where there is a gap (or cleft) between the arytenoids. Milder types can be treated with injection laryngoplasty (IL), involving injection with a filler, resulting in a decreased depth of the cleft and thereby reducing tracheal penetration or aspiration. The effect, however, is temporary. The aim of this study was to investigate the possible indications and the efficacy of IL for LC. MethodsPatients who underwent IL for LC between March 2018 and June 2023 were retrospectively evaluated. The following parameters were studied: incidence of LC symptoms and objective swallowing evaluations before and after IL, the duration of possible symptom improvement, complications, and the number of subsequent suture repairs. ResultsEighty-five patients were included. Before IL, 81 (96 %) patients had symptoms of aspiration during feeding, compared to 41 (54 %) patients after IL (p ≤ 0.001). In 42 (49 %) patients, temporary symptom relief occurred, in 22 (26 %) patients symptoms persisted, in 16 (19 %) patients symptoms decreased permanently. Mild complications such as cough and desaturations in the direct postoperative period occurred. ConclusionThis study shows a statistically significant decrease in the number of parents/caretakers reporting swallowing symptoms after injection laryngoplasty, and a decrease in the average percentage of parents/caretakers reporting various other symptoms. Based on our results, injection laryngoplasty can be recommended as a diagnostic tool in the treatment of laryngeal cleft. Furthermore, it can be used as bridge therapy (i.e. until patients outgrow their symptoms, or until suture repair).

Outcomes of surgical repair of Type III and IV laryngotracheoesophageal clefts with posterior cartilage grafting.

To describe the clinical outcomes of patients who underwent surgical repair through an anterior approach that involved interposition a posterior cartilage for Type III or Type IV laryngotracheoesophageal cleft (LTEC). A chart view was performed on patients with Type III or Type IV LTEC between May 2017 and May 2022. Demographic features and surgical outcomes were collected and analyzed. Seven patients were finally included. Five patients were diagnosed with Type III LTEC and two patients were diagnosed with Type IV LTEC. All but one patients survived and thrived. Four patients were able to successfully extubate with acceptable voice, and two patients were tracheostomized. Five patients were deemed safe for all consistencies food and one was safe for thickened food. After a mean follow-up of 49months (18-83months), neither complications nor recurrences were observed. An anterior laryngofissure approach to the cleft repair with a posterior cartilage grafting is an effective and safe treatment for Type III or IV LTEC, which enables closure of LTEC and reconstruction of cricoid plate in order to avoid tracheoesophageal fistula formation or subglottic stenosis postoperatively. Severe tracheomalacia and GERD are two main causes for surgical failure.

Pediatric Robotic Laryngeal Cleft Repair.

Compare surgical and swallow outcomes in robotic versus traditional laryngeal cleft (LC) repairs. Retrospective cohort study. Tertiary care pediatric hospital. Pediatric patients who underwent robotic or traditional (open or endoscopic) LC repair between 2010 and 2021 were identified. Patient characteristics, operative times, adverse events, hospital length of stay (LOS), and modified barium swallow study (MBSS) results were compared. Eighteen robotic and thirty traditional LC repairs were identified. Mean surgical (149 vs 111 min, P < .05) and OR times (207 vs 139 min, P < .002) were increased for robotic type I LC repairs, but were similar for type II and III LC. Mean hospital LOSwas increased for robotic type I LC repairs (2.6 vs 1.2 days, P < .006), but was decreased for type II (4 vs 12.2 days) and type III (4.3 vs 94.5 days) LC. Postoperative MBSS results were improved for robotic type I LC repairs at 12 months (82% vs 43%, P = .05), and trended towardimprovement at 6 months for type II (75% vs 22%), and type III (67% vs 50%) LC repairs, although significance was limited for type II and III LC due to the number of subjects. A robotic approach was used successfully to revise all recurrent LC that failed traditional repairs. Robotic type 1 LC repairs demonstrated increased operative times and hospital LOS but improved postoperative swallow outcomes compared to traditional approaches maybe particularly useful in cases of recurrent clefts.

Long-term Airway Outcomes and Interventions in Children With Oesophageal Atresia With Tracheoesophageal Fistula: A 20-year Single Centre Observational Study

BackgroundAirway anomalies, symptoms and interventions are commonly reported in children with oesophageal atresia with tracheoesophageal fistula (OA/TOF). The purpose of this study was to assess the incidence of these airway pathologies and those requiring interventions in the long-term. MethodsA retrospective case note review of all patients admitted to the Neonatal Unit at the Royal Hospital for Children, Glasgow between January 2000 and December 2015 diagnosed with OA/TOF. Included patients had a minimum of 5 years follow-up. Results121 patients were identified. 118 proceeded to OA/TOF repair. 115 patients had long-term follow-up data. Ninety-five (83%) children had one or more airway symptom recorded. Thirty-six (31%) neonates underwent airway endoscopy at the time of their initial OA/TOF repair. Forty-six (40%) children underwent airway endoscopy at a later date due to airway symptoms. Airway pathologies identified included airway malacia, thirty-two (28%), subglottic stenosis, eleven (10%), tracheal pouch, twenty-five (22%), laryngeal cleft, seven (6%) and recurrent fistula, five (4%). Airway interventions included endoscopic division of tracheal pouch, ten (9%), tracheostomy, seven (6%), aortopexy, six (5%), repair of recurrent fistula, five (4%), endoscopic repair of laryngeal cleft, three (3%) and four (3%) required open airway reconstruction for subglottic stenosis. One child (1%) remains tracheostomy dependent. ConclusionsLong-term airway pathologies are common in children with OA/TOF. Many of these are remediable with surgical intervention. Clinicians should be cognisant of this and refer to Airway Services appropriately.

Upper Esophageal Sphincter Dysfunction in Children with Type 1 Laryngeal Cleft after Failed Primary Cleft Repair.

Changes in pharyngeal and upper-esophageal-sphincter (UES) motor dynamics contribute to swallowing dysfunction. Children with type 1 laryngeal clefts can present with swallowing dysfunction and associated symptoms which may persist even after the initial endoscopic intervention. This study sought to characterize pharyngeal and esophageal motor function in children with type 1 laryngeal clefts who had persistent presenting symptoms after their initial therapeutic intervention. We retrospectively analyzed high-resolution esophageal manometry studies of children ≤ 18 years old with type 1 laryngeal clefts who had an esophageal manometry study performed for persistent symptoms after an initial repair. A total of 16 children were found to have significantly increased UES resting pressure, UES pre- and post-swallow maximum pressures, and duration of UES contraction during swallows in comparison to nine age-matched controls of children without pharyngeal anatomical abnormalities. There was no difference between UES residual pressures or pharyngeal dynamics between the two groups. UES resting and residual pressures did not correlate with VFFS in penetration and aspiration scores of children with type 1 laryngeal clefts status post repair. Our study is the first to identify specific changes in UES motor function in patients with type 1 laryngeal cleft post initial repair.

Diagnosis of posterior laryngeal cleft in a newborn with multiple congenital malformations

The article describes a rare congenital malformation – laryngeal cleft in a newborn. Clinical manifestations are characterised by diverse non-specific symptoms in the form of dysphagia, cough, aspiration, and stridor. The severity of the condition is determined by the depth and degree of the defect and concomitant somatic and neurological pathology of the child. The article presents a clinical case of a Type 3 laryngeal cleft in a newborn with multiple congenital malformations and presents a diagnostic search for a cleft. At the age of 7 months, endoscopic suturing of the defect was performed, which allowed restoring enteral nutrition and normalizing the nutritional status of the child.

Diagnosis and treatment of disorders of laryngeal airway in children and prospect

This paper focuses on the diagnosis and treatment of disorders of laryngeal airway in children, including congenital anomalies, infection, and tumor of the larynx to provide a new technology for managing these diseases. Based on the characteristic of them, the pediatric upper airway is dedicated to the clinical evaluation of airway obstruction and the assessment of the compromised pediatric airway, including clinical evaluation of symptoms, diagnostic endoscopy, and imaging examination. Information on endoscopic techniques used for dealing with different degrees of pediatric airway comprised is provided, also this techniques could diagnose what kinds of airway disorder. For example, determining the a particular laryngeal cleft at the initial otolaryngology encounter, flexible laryngoscopy should be performed. In order to define the extent of any identified cleft, the rigid bronchoscopy should be completed to evaluate for classification of laryngeal cleft including typeⅠ, Ⅱ, Ⅲa, Ⅲb, Ⅳa, Ⅳb under general anesthesia. The decision to pursue any therapy for the disorders of laryngeal airway in children should be based on the severity of the patient's symptoms, endoscopic and imaging examination. There are two medical treatments including nonsurgical therapy and surgical therapy. For example the laryngeal cleft, approximately half of type 1 and select type 2 patients can be managed entirely with nonsurgical therapy. Medical management is multifaceted. Under recommendations from the feeding team, a modified diet with thickened feeds and possibly altered feeding position should be initiated. Endoscopic surgical repair is the current gold standard for definitive repair of type 1, the majority of type 2, and selected type 3 clefts. Finally, information on new techniques used into the future for dealing with the diagnosis and treatment of disorders of laryngeal airway in children in this paper.

Application of endoscopic surgical repair through bracing laryngoscope in children with type Ⅲ laryngeal clefts

Objective:To analyze the efficacy of endoscopic surgical repair in the treatment of type Ⅲ laryngeal clefts and to explore the feasibility of the treatment for type Ⅲ laryngeal clefts. Methods:The clinical data of 6 children with type Ⅲ laryngeal clefts who underwent endoscopic surgical repair in our department from June 2018 to January 2023 were analyzed retrospectively. The operation was performed under combined intravenous and general anesthesia,preserving the spontaneous breathing of the children. With the assistance of 4 mm/0° endoscope, radiofrequency knife or laryngeal scissors were used to make fresh wounds along the edge of laryngeal clefts,and cotton pads infiltrated with adrenaline （1:10 000） were used to compress the wound. 6-0 PDP suture was used to suture 3-6 stitches according to the extent of laryngeal clefts. Modified barium swallowing test （MBS） was performed 3 months after operation. Results:All the children were successfully treated with endoscopic surgical repair. After surgery, 2 cases were transferred to pediatric intensive care unit （ICU） for 7 days of monitoring, and the rest were transferred back to the general ward. There were no postoperative complications. The symptoms of dysphagia, laryngitis and recurrent pneumonia were improved in all children. According to the follow-up results of postoperative MBS,no aspiration was found in all children, and 2 children had intermittent cough when drinking large amounts of water. During the follow-up, there were 2 cases of recurrence, and the cracks were completely repaired after the second endoscopic surgical repair treatment,and no recurrence has been observed so far. Conclusion:Endoscopic surgical repair can be applied to some children with type Ⅲ laryngeal clefts with less intraoperative bleeding and fewer operative complications. It can significantly improve the symptoms such as swallowing dysfunction and recurrent pneumonia. It is a safe and effective surgical treatment.

Findings on drug-induced sleep endoscopy in infants with laryngomalacia

IntroductionObstructive sleep apnea (OSA) is highly prevalent in infants with laryngomalacia (LM). Previous studies have reported high rates of persistent OSA following supraglottoplasty (SGP). The objective of this study is to describe the findings on drug-induced sleep endoscopy (DISE) in infants with LM. MethodsA retrospective review was performed including infants (12.5 months of age or less) with LM who underwent DISE along with direct laryngoscopy and bronchoscopy (DLB). Data collected included clinical presentation, swallow study results, sleep study results, past medical and surgical history, and postoperative outcomes when follow-up data was available. The findings on DISE as well as DLB were reviewed and described. ResultsThirty-five infants were included in the study with a mean age of 0.42 years (range 0.04–1.04). Obstructive sleep-disordered breathing (oSDB) and/or OSA were identified in 26 patients (74.3%) in addition to 7 patients (20%) with noisy breathing during sleep. DISE demonstrated LM in 31 patients (89%). DISE identified 12 patients (34%) with partial or complete obstruction at the level of the tongue base. DLB identified 14 patients (40%) with a secondary airway abnormality including 7 patients (20%) with type 1 laryngeal cleft and 4 patients (11%) with grade 1 subglottic stenosis. Eighteen patients (51%) underwent SGP. ConclusionDISE at the time of airway endoscopy for infants with LM can be helpful in identifying additional sites of obstruction including the tongue base. Glossoptosis may explain and/or predict the previously reported persistence of OSA following SGP. Additionally, DISE can complement awake flexible laryngoscopy in the assessment of severity of LM.

Congenital laryngo-tracheo-esophageal clefts: updates from a quaternary care pediatric airway unit

PurposeTo review the operative techniques, outcomes, and complications following surgery in pediatric patients with laryngo-tracheo-esophageal clefts (LTEC). We describe a new combined approach to treat long LTECs.MethodsTwenty-five patients underwent surgical repair for LTEC from March 2012 to July 2022 at our hospital. Every patient underwent a diagnostic endoscopy under general anesthesia and spontaneous ventilation to assess the LTEC and synchronous aero-digestive comorbidities/malformations. All patients underwent at least one surveillance endoscopy after the repair at our institution.ResultsThe patients had multiple other malformations, specifically gastro-intestinal, synchronous airway, and cardiac. The cleft distribution according to the modified Benjamin and Inglis classification was type I (n = 5, 20%), type II (n = 6, 24%), type IIIa (n = 8, 32%), type IIIb (n = 4, 16%), and type IVa (n = 2, 8%). The median follow-up was 44.6 months. Five patients (20%) had undergone previous cleft corrective surgery(s). Seven patients (28%) had partial to complete breakdown of the repair, needing additional intervention(s), and two required a combined—open plus endoscopic repair. Preoperatively, most patients (n = 18, 72%) needed a feeding assistance. At latest follow-up, feeding assistance was weaned off in 13 out of 18 patients, which was a 72% improvement. Ten patients (40%) needed ventilation assistance before the surgery. Post-operatively, ventilatory assistance was weaned off in 6 patients, meaning a 60% improvement.ConclusionLTEC are rare malformations, and their management needs precise diagnosis, appropriate surgical planning, and execution, and dedicated post-operative care. Primary and revision repair of long clefts with tracheal extension may require a combined approach.

Harnessing the power of electronic health records and open natural language data mining to capture meaningful patient experience during routine clinical care.

Electronic health records (EHR) are a rich data source for both quality improvement and clinical research. Natural language processing can be harnessed to extract data from these previously difficult to access sources. The objective of this study was to create and apply a natural language search query to extract EHR data to ask and answer quality improvement questions at a pediatric aerodigestive center. We developed a combined natural language search query to extract clinically meaningful data along with International Statistical Classification of Diseases (ICD10) and Current Procedural Terminology (CPT) code data. This search query was applied to a single pediatric aerodigestive center to answer key clinical questions asked by families. Data were extracted from EHR data from first clinic visit, operative note, microbiology lab report, and pathology report for all new patients from 2020 to 2021. Included as three queries were: 1) if I bring my child to a pediatric aerodigestive center, how often will my child obtain a medical diagnosis without needing an intervention? 2) if my child has a diagnostic procedure, how often will a diagnosis be made? 3) if a diagnosis is made, can it be addressed during that endoscopic intervention? For the 711 new patients coming to the pediatric aerodigestive center from 2020 to 2021, only 26-32% required an interventional triple endoscopy (rigid/flexible bronchoscopy with esophagoduodenoscopy). Of these triple endoscopies, 75.7% resulted in a positive finding that enabled optimization of that child's care. Of the 221 patients who underwent diagnostic triple endoscopies, 40.7% underwent intervention at the same time for laryngeal cleft (injection or suture, dependent upon age). Here we created an effective model of open language search query to extract meaningful metrics of patient experience from EHR data. This model easily allows the EHR to be harnessed to create retrospective and prospective databases that can be readily queried to answer clinical questions important to patients. Such databases are widely applicable not just to pediatric aerodigestive centers but to any clinical care setting using an EHR.

Interarytenoid injection outcomes in pediatric feeding disorders.

Type 1 laryngeal clefts (LC1) and deep interarytenoid grooves contribute to pediatric feeding disorders. Management of these defects remains heterogeneous among surgeons and interarytenoid injection augmentation (IIA) is not always offered as a treatment option. This study evaluated IIA outcomes among a pediatric patient cohort comprised mostly of those with deep interarytenoid grooves. A single-institution retrospective chart review featured children under the age of 5 years presenting for aspiration, dysphagia, or choking. Over the period of 7 years (January 2014-October 2021), 39 met inclusion criteria and had sufficient follow-up data. Descriptive statistics and subgroup analyses were performed. Of the 39 included patients, 76.92% had clinical improvement post-injection, with the mean time to follow-up being 47 days. Within the deep interarytenoid groove group, improvement rates were 82.76%. Bronchoscopy findings revealed 29 (74.36%) patients with a DIG, 3 (7.69%) with LC1, 3 (7.69%) with no anatomic abnormality, and 4 (10.26%) with vocal cord paralysis. There were no adverse events. There were no associations with the outcomes based on subgroup analysis and logistic regression. IIA is an effective and safe treatment for pediatric feeding disorders. No covariates were associated with symptom improvement. Within the deep interarytenoid groove diagnosis subgroup, IIA effectively improved symptoms. Further investigations are needed to explore predictors of success with IIA in this population. VI.

Triple endoscopy and recurrent croup in children: A single aerodigestive center experience

ObjectiveTo determine the utility of triple endoscopy (combined direct laryngoscopy, bronchoscopy (DLB), flexible bronchoscopy with bronchoalveolar lavage (FB + BAL), and esophagogastroduodenoscopy (EGD)) in the diagnosis and management of patients with recurrent croup (RC), and to identify predictors of endoscopic findings MethodsA retrospective chart review was performed of pediatric patients (age <18 years) with RC evaluated by triple endoscopy at a tertiary care pediatric hospital from 2010 to 2021. Data including presenting symptoms, airway findings, BAL and EGD with biopsy findings were collected. Results42 patients with RC underwent triple endoscopy were included. The mean age was 4.55±2.84 years old. The most common symptom was chronic cough among 19 (45%) patients, while 23 (55%) patients had gastrointestinal (GI) symptoms. Airway findings included tracheomalacia in 19, laryngeal cleft in 17, and subglottic stenosis in 11 patients. On EGD with biopsy, abnormal gross findings were present in 6 and abnormal microscopic findings in 18 patients, including 6 with histologic findings suggestive of gastroesophageal reflux and 5 with eosinophilic esophagitis. Seventeen (40%) patients had positive culture on BAL. No findings in patient histories significantly predicted presence of lower airway malacia, subglottic stenosis, or abnormal EGD findings. ConclusionsChildren with recurrent croup presenting to aerodigestive centers may not have any pertinent presenting symptoms that correlate with significant findings on triple endoscopy. Further work is needed to determine which children with recurrent croup may benefit from aerodigestive evaluation. Level of evidenceLevel 3

Timeline to dysphagia resolution after endoscopic intervention of an interarytenoid defect based on Video Fluoroscopic Swallow Study dysphagia severity.

We previously reported that endoscopic repair of a Type 1 Laryngeal Cleft (LC1) or Deep Interarytenoid Groove (DIG) improves swallowing function postoperatively. However, caregivers often ask about the timeline to resolution of the need for thickening. This study re-examines this cohort to answer this important caregiver-centered question. We reassessed a 3-year retrospective, single-center dataset of children with dysphagia found to have a LC-1 or DIG on endoscopic exam. The primary outcome was rate of complete resolution of dysphagia at 2, 6, and 12 months after endoscopic intervention. A sub-group analysis was made based on severity of dysphagia prior to intervention and by type of endoscopic repair. Thirty-nine patients with mean age 1.35 years that had a LC-1 or DIG met criteria for inclusion. Rate of complete dysphagia resolution increased over time. Those with mild dysphagia (flow-reducing nipple and/or IDDSI consistency 1 or 2) had brisker resolution than those with moderate dysphagia (IDDSI consistency 3 or 4) at 2 months (67% vs 5%, p<0.01) and at 6 months (80% vs 18%, p<0.01) after endoscopic repair. There was no difference in dysphagia resolution between patients grouped by type of endoscopic repair. Addressing an interarytenoid defect in patients will not result in immediate, complete dysphagia resolution in most patients. However, patients that only require a flow-reducing nipple and/or thickening to an IDDSI consistency 1 or 2 have brisker resolution of the need for thickening than those that require an IDSSI consistency 3 or 4 prior to intervention. These results inform pre-operative discussions of the timeline to resolution based upon severity of dysphagia and help manage caregiver expectations.

Consensus recommendations on the evaluation and treatment of congenital laryngeal clefts

Congenital laryngeal cleft is a rare airway malformation, mainly manifested as choking, feeding difficulties, which affects the growth and development of children. Patients with a severe laryngeal cleft may have recurrent aspiration, leading to cyanotic spells, or even death. Advances in development of endoscopic techniques have made early diagnosis possible. Depending on the degree of cleft, management may involve a variety of approaches ranging from medical management alone to open repair. Therefore, it is important for pediatric ENT doctors to diagnose and evaluate in clinical practice. This consensus statement, developed by the Pediatric otorhinolaryngology Professional Committee of the Pediatrician Branch of the Chinese Medical Doctor Association, provides comprehensive recommendations and standardized guidance on diagnosis and management of laryngeal cleft, based on symptomatology, physical examinations, and laboratory tests.

1028 Congenital Central Hypoventilation in a patient with MCEP2 duplication syndrome

Abstract Introduction Congenital central hypoventilation (CCHS) is a rare disorder due to impairment of autonomic nervous system clinically defined by a significantly reduced or abolished ventilatory response to hypercapnia and hypoxemia in the absence of pulmonary, neuromuscular, or cardiac disease. There is limited knowledge on associated respiratory manifestations and sleep-disordered breathing in children with the MECP2 duplication syndrome. Although sleep-disordered breathing and nocturnal hypoventilation are currently not well recognized in these children, we present a case of a patient with MECP2 mutation and congenital hypoventilation syndrome. Report of case(s) 24-week-old male born full-term via c-section presented with recurrent respiratory problems, laryngeal cleft, dysphagia, snoring and apneic episodes. Previous genetic work up showed chromosome 15q11.2 microdeletion. Past medical history was significant for neonatal ICU stay for respiratory distress immediately following birth. Tonsils are 1+ on exam. PSG showed profound central sleep apnea (CAI 300/h) with average apneic episodes lasted for 7 seconds and very significant periodic breathing (88%) and mild obstructive apnea. Mild hypoxemia was also seen with SpO2 in low 90s without any significant hypercapnia. Bradypnea with resp rate 10-20/m was seen. PHOX2B gene testing was negative. Genetic testing with SNP array showed MECP2 duplication syndrome. His development is delayed, currently at the age of 20 months, including cognitive, speech and motor function for which he is on therapy. Tracheostomy was recommended, however family preferred to continue with non-invasive ventilation while awaiting diaphragmatic pacing. Conclusion Respiratory manifestations in MECP2 duplication syndrome patients are common, with important impact and even a possible fatal outcome. Although sleep-disordered breathing and nocturnal hypoventilation is currently not cited as an important symptom in these children, there have been several case reports of CCHS associated with this. PSG should be considered in patients with MCEP2 duplication syndrome for timely diagnosis. Different treatment modalities (ENT surgery, CPAP and NIV) can be applied successfully to treat respiratory conditions associated with MECP2 duplication syndrome. Support (if any)

Disruption of BMP4 signaling is associated with laryngeal birth defects in a mouse model

Laryngeal birth defects are considered rare, but they can be life-threatening conditions. The BMP4 gene plays an important role in organ development and tissue remodeling throughout life. Here we examined its role in laryngeal development complementing similar efforts for the lung, pharynx, and cranial base. Our goal was to determine how different imaging techniques contribute to a better understanding of the embryonic anatomy of the normal and diseased larynx in small specimens. Contrast-enhanced micro CT images of embryonic larynx tissue from a mouse model with Bmp4 deletion informed by histology and whole-mount immunofluorescence were used to reconstruct the laryngeal cartilaginous framework in three dimensions. Laryngeal defects included laryngeal cleft, laryngeal asymmetry, ankylosis and atresia. Results implicate BMP4 in laryngeal development and show that the 3D reconstruction of laryngeal elements provides a powerful approach to visualize laryngeal defects and thereby overcoming shortcomings of 2D histological sectioning and whole mount immunofluorescence.

Gastric tumor mimicking bronchial tissue associated with a laryngotracheoesophageal cleft: a case report

BackgroundLaryngotracheoesophageal cleft (LTEC) is a rare disease in which the larynx and trachea communicate posteriorly to the esophagus. It is often associated with other congenital malformations, particularly gastrointestinal anomalies. Herein, we report a case of LTEC associated with a gastric polypoid lesion in bronchial tissue.Case presentationA gastric mass was detected in a male fetus since week 21 of gestation using fetal ultrasonography. Esophagogastroduodenoscopy performed after birth revealed a pedunculated polypoid lesion of the gastric fornix. The patient experienced frequent vomiting and aspiration pneumonia, which persisted after nasoduodenal tube feeding. Communication between the airway and esophagus was suspected. Laryngoscopy performed 30 days later revealed an LTEC (type III). Partial gastrectomy was performed when the patient was 93 days of age. Histopathological examination revealed tumor consisting of cartilage tissue covered with a layer of respiratory epithelium.ConclusionThe gastric tumor associated with LTEC exhibited structures mimicking bronchial tissue. LTEC occurs because of foregut maldevelopment, and the tumorous respiratory tissue in the stomach may have been formed from the same abnormal foregut development event as LTEC.