OBJECTIVE: Trisomy 18 and trisomy 13 are the most common autosomal trisomies following trisomy 21, with overall incidence rising. Both diagnoses are characterized by multisystem involvement and were previously thought to be incompatible with life. New data suggest that prolonged survival is possible, and thus many families are opting for more aggressive medical interventions. This study aims to describe airway findings in trisomy 18 and trisomy 13, as these have not been comprehensively studied and can impact medical decision-making. We hypothesize that most children with trisomy 18 and trisomy 13 will have abnormal findings on airway endoscopy.
METHODS: This a 10-year retrospective analysis of children with trisomy 13 or trisomy 18 who underwent endoscopic airway evaluation at a single center between 2011 and 2021. A total of 31 patients were evaluated.
RESULTS: Thirty-one patients were included and underwent flexible bronchoscopy by a pediatric pulmonologist, often in conjunction with rigid bronchoscopy performed by pediatric otolaryngology. Findings were typically complimentary. All patients had at least one clinically significant finding on evaluation, and most patients had both upper and lower airway, as well as static and dynamic airway findings. The most common airway findings in children with trisomy 13 and 18 include tracheomalacia, bronchomalacia, laryngomalacia, hypopharyngeal collapse, glossoptosis, and bronchial compression.
CONCLUSIONS: These findings can have significant implications for clinical care, and thus knowledge of trends has the potential to improve counseling on expected clinical course, presurgical planning, and informed consent before interventions.

BACKGROUND: Tracheobronchomalacia (TBM) and airway stenosis are recognized etiologies of airway obstruction among children. Their management is often challenging, requiring multiple interventions and prolonged respiratory support with associated long-term morbidity. Metallic or silicone stents have been used with mixed success and high complication rates. More recently biodegradable Ella stents (BES) provided an attractive interventional option.
OBJECTIVE: We report our experience in the treatment of TBM and vascular airway compression using BES. We deliberately downsized them to minimize intraluminal granulation tissue formation.
METHODS: Retrospective study over an 8-year period between November 2012 and December 2020 of pediatric patients with severe airway obstruction requiring airway stenting for extubation failure, malacic death spells, recurrent chest infections, or lung collapse.
RESULTS: Thirty-three patients (5 tracheal and 28 bronchial diseases) required 55 BES during the study period. The smallest patient weighed 1.8 kg. Median age of patient at first stent implantation was 13.1 months (IQR 4.9-58.3). The majority of the bronchial stents were in the left main bronchus (93%), of which 57% for vascular compression. Repeat stents were used in 19 patients (57.7%), with a range of two to four times. We did not experience erosion, infection, or obstructive granuloma needing removal by forceps or lasering. Three stent grid occluded with secretions needing bronchoscopic lavage. Stent migration occurred in three patients.
CONCLUSIONS: BES holds promise as a treatment option with low rate of adverse effects for a specific subset of pediatric patients with airway malacia or vascular compression. Further studies are warranted.

Vascular rings, including double aortic arch and right aortic arch with aberrant left subclavian and left ligamentum, are part of a larger group of vascular-related aerodigestive compression syndromes that also includes innominate artery compression syndrome, dysphagia lusoria, aortic arch anomalies, and aneurysms of either the aorta or pulmonary artery. Additionally, post-surgical airway compression is a distinct entity in itself. The approach to the diagnosis and management of these varied phenomena has been streamlined by the multidisciplinary team at Boston Children\'s Hospital. Echocardiography, computed tomographic angiography, esophagram, and three-phase dynamic bronchoscopy are routinely performed in these patients in order to produce a comprehensive understanding of the unique anatomic challenges that each patient presents. Adjunctive diagnostic techniques include modified barium swallow, routine preoperative and postoperative screening of the vocal cords, and radiographic identification of the artery of Adamkiewicz. Beyond the vascular reconstruction, which ranges from subclavian-to-carotid transposition to descending aortic translocation, we liberally apply tracheobronchopexy and rotational esophagoplasty to relieve respiratory and esophageal symptoms. Due to the heightened risk for recurrent laryngeal nerve injury, intraoperative recurrent laryngeal nerve monitoring has become routine in these cases. The comprehensive care of these patients requires the coordinated efforts of a large team of dedicated personnel in order to achieve the optimal result.

Relapsing polychondritis is an immune disorder of unknown etiology involving multiple systems that is characterized by persistent inflammation and destruction of cartilage, including the ears, nose, costal, joint, and airways. Airway involvement caused by relapsing polychondritis is common, and tracheobronchomalacia is the most serious complication, which is life-threatening. Currently, the exact mechanism of relapsing polychondritis with tracheobronchomalacia is unknown. Although glucocorticoids and immunosuppressive agents are administered, failures often occur. Currently, bronchoscopy-guided intervention therapy used in tracheobronchomalacia caused by chronic obstructive pulmonary disease or other etiology has gradually increased, but bronchoscopy-guided intervention therapy with extracorporeal membrane oxygenation assist used in tracheobronchomalacia caused by relapsing polychondritis has not been reported. Here, we report a case of relapsing polychondritis with severe tracheobronchomalacia. Although drug therapy was provided and airway stent implantation was performed, the tracheal stenosis was further aggravated. Because conventional anesthesia and mechanical ventilation cannot meet the needs of bronchoscopy-guided intervention therapy or guarantee sufficient safety. The intervention treatment was performed with the support of extracorporeal membrane oxygenation, which was successfully completed without obvious complications. The symptoms were significantly improved, and the patient was discharged uneventfully.

Tracheobronchomalacia is a condition of dynamic collapse of the trachea and mainstem bronchi. The clinical significance of tracheobronchomalacia depends on its severity. Mild cases may be medically managed with limited symptomology, while severe cases require advanced therapies, lengthy hospital stays, and carry significant morbidity and mortality. Current therapies for severe tracheobronchomalacia include tracheostomy with prolonged mechanical ventilation, aortopexy, tracheobronchopexy, and intraluminal metallic, silicone, or bioresorbable stents. Three-dimensional (3D)-printed, patient-specific, bioresorbable airway splinting is a novel treatment option that is undergoing investigation in a cohort of critically ill children with severe tracheobronchomalacia. At the time of our last review of our data, 29 splints had been implanted in 15 children with intrathoracic tracheobronchomalacia. The median follow-up was 8.5 months. There were 12 long-term survivors, and all but one lived at home. This article discusses the details of our institution\'s development and use of 3D-printed, patient-specific, bioresorbable splints for treatment of severe tracheobronchomalacia in the pediatric population.

Trisomy 12 is a rare autosomal aneuploidy. All postnatally diagnosed individuals with trisomy 12 have been mosaic for this chromosome abnormality. We herein report an infant girl presented at 2 weeks of age with severe congenital heart defect, tracheobronchomalacia, and dysmorphic features. All of the dysmorphic features of this patient fit into the known phenotype spectrum of mosaic trisomy 12, although this patient uniquely presented with macrocephaly. Tracheo-bronchomalacia has been described once previously but had a significant impact on this patient\'s clinical course. The patient passed away at 2-month-old due to cardiac and respiratory complications. Chromosomal single nucleotide polymorphism (SNP) microarray analysis on a peripheral blood sample from the patient revealed trisomy 12 in approximately 50% of cells. Concurrent fluorescence in situ hybridization analysis of uncultured blood cells detected a comparable level of trisomy 12 mosaicism. Compared to conventional cytogenetics, SNP microarray examines all nucleated cells without sampling bias, has an increased power to estimate mosaicism level, and can provide a quick assessment of the underlying mechanism. Here we demonstrate the utilization of SNP microarray in the clinical diagnosis of those once considered rare disorders but might have been missed by conventional cytogenetic techniques.

UNASSIGNED: Tracheobronchomalacia (TBM) is a severe life-threatening perioperative complication. It is a rare condition caused by congenital and developmental anomalies of the trachea and/or the bronchus. It is often difficult to diagnose TBM before surgery as this congenital disease presents very few symptoms preoperatively and most often appears postoperatively.
UNASSIGNED: The study describes a case of cleft-lip-plate (CL/P) in a 7-month-old Japanese female with TBM and Tetralogy of Fallot syndrome. Before undergoing cleft-lip surgery, her TBM was not fully elucidated by preoperative examinations, and the operation was completed uneventfully. After the surgery, however, she started showing severe respiratory distress and developed hypoxia and bradycardia in the operating room. CPR was performed successfully, but a bronchoscopy revealed a severely collapsed airway, and the pathological condition was diagnosed as TBM occurred postoperatively. Eight months later, she died of sudden respiratory failure similar to that of the postoperative event caused by TBM. A literature review was conducted on the complications of CL/P from 1990 to 2017 in Japan.
UNASSIGNED: It was hypothesized that CL/P with congenital heart disease (CHD) and TBM with CHD may crossover in relatively high rates. Currently, there are very few solutions available to treat severe airway obstruction related to TBM. This highlights the need for preoperative diagnosis of TBM as an important step in overcoming severe airway complications.

UNASSIGNED: Tracheobronchomalacia (TBM) describes an increased collapsibility of the trachea and bronchi that is greatest on forced expiration. A broad term, TBM encompasses intrinsic tracheal weakness, some forms of tracheal deformation, and extrinsic compression. Tracheobronchomalacia is the most common congenital tracheal anomaly, affecting 1 in 2100 children. Tracheobronchomalacia is often associated with recurrent and prolonged respiratory tract infections, can lead to chronic lung disease, and can be fatal in its most severe form. Tracheobronchomalacia is often associated with other congenital anomalies and syndromes.
UNASSIGNED: There is a paucity of information on TBM treatment in the modern otolaryngology literature. The primary treatment modalities described include tracheotomy, tracheal stents, and anterior aortopexy. In this review, a new TBM classification scheme and new treatment strategies are introduced to the otolaryngology literature. Diagnosis is made through history and physical examination, dynamic airway computed tomography, and dynamic 3-phase tracheobronchoscopy. Medical management includes nebulizer treatments, minimal use of inhaled corticosteroids, gastroesophageal reflux disease therapy, and continuous positive airway pressure. Surgical techniques, including anterior and posterior tracheobronchopexy and anterior and posterior aortopexy, are described.
UNASSIGNED: Tracheobronchomalacia is an entity of relevance to pediatric otolaryngologists and should be considered as being associated with respiratory distress, stridor, cough, recurrent pneumonia, or feeding difficulties, especially in children with syndromes or other congenital anomalies. A multidisciplinary approach to these patients is essential. A classification scheme facilitates discussion of individual patients among health care professionals and guides appropriate management. Novel surgical approaches for the treatment of TBM, including anterior and posterior tracheopexy and aortopexy, may be considered in management of the treatment of children with symptomatic TBM.

Airway problems in the neonatal population are often life threatening and raise challenging issues in diagnosis and management. The airway problems can result from congenital or acquired lesions and can be broadly classified into those causing obstruction or those due to an abnormal \"communication\" in the airway. Many different investigations are now available to identify the diagnosis and quantify the severity of the problem, and these tests can be simple or invasive. Bronchography and bronchoscopy are essential to determine the extent and severity of the airway problem and to plan treatment strategy. Further imaging techniques help to delineate other commonly associated abnormalities. Echocardiography is also important to confirm any associated cardiac abnormality. In this review, the merits and disadvantages of the various investigations now available to the clinician will be discussed. The current therapeutic strategies are discussed, and the review will focus on the most challenging conditions that cause the biggest management conundrums, specifically laryngotracheal cleft, congenital tracheal stenosis, and tracheobronchomalacia. Management of acquired stenosis secondary to airway injury from endotracheal intubation will also be discussed as this is a common problem. Slide tracheoplasty is the preferred surgical option for long-segment tracheal stenosis, and results have improved significantly. Stents are occasionally required for residual or recurrent stenosis following surgical repair. There is sufficient evidence that a multidisciplinary team approach for managing complex airway issues provides the best results for the patient. There is ongoing progress in the field with newer diagnostic tools as well as development of innovative management techniques, such as biodegradable stents and stem cell-based tracheal transplants, leading to a much better prognosis for these children in the future.

Tracheobronchomalacia is characterised by excessive airway collapsibility due to weakness of airway walls and supporting cartilage. The standard definition requires reduction in cross-sectional area of at least 50% on expiration. However, there is a paucity of information regarding the normal range of central airway collapse among children of varying ages, ethnicities and genders, with and without coexisting pulmonary disease. Consequently, the threshold for pathological collapse is considered somewhat arbitrary. Available methods for assessing the airway dynamically--bronchoscopy, radiography, cine fluoroscopy, bronchography, CT and MR--have issues with reliability, the need for intubation, radiation dose and contrast administration. In addition, there are varying means of eliciting the diagnosis. Forced expiratory manoeuvres have been employed but can exaggerate normal physiological changes. Furthermore, radiographic evidence of tracheal compression does not necessarily translate into physiological or functional significance. Given that the criteria used to make the diagnosis of tracheobronchomalacia are poorly validated, further studies with larger patient samples are required to define the threshold for pathological airway collapse.