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Background: Tracheal agenesis is a rare and lethal congenital airway anomaly. In particular, very few patients with type II Floyd tracheal agenesis experience long-term survival. We present the case of a male infant who was diagnosed with type II disease, underwent staged reconstruction and was discharged home with a tolerance for oral intake. Case presentation: The patient was delivered via emergency cesarean section at 33 week gestation due to fetal distress. Initial attempts to intubate the trachea failed, but ventilation was successfully achieved through esophageal intubation, prompting suspicion of tracheal agenesis with a tracheoesophageal fistula. The diagnosis was confirmed via CT and laryngoesophagoscopy. On the same day, abdominal esophageal banding and gastrostomy were performed. For long-term management, staged operations, including pseudotracheostomy, internal and external stenting of the trachealized esophagus, and reconstruction of the alimentary tract, were performed. Despite being discharged home with a tolerance for oral intake, the patient experienced cardiac arrest at 41 months due to tracheal tube displacement. Conclusions: Early detection of tracheal agenesis in postnatal patients experiencing respiratory distress is crucial. Type II Floyd tracheal agenesis remains challenging because of the absence of a trachea and the narrow diameter of the tracheoesophageal fistula. [ABSTRACT FROM AUTHOR]

Abstract Background In this study we aimed to describe the morphological and pathogenetic differences between tracheal agenesis and tracheal atresia, which are not clearly distinguished from each other in the literature, and to contribute thereby to the understanding and management of these conditions. Both tracheal agenesis and tracheal atresia represent rare disorders of still unknown aetiology that cannot be detected by prenatal ultrasound. If the affected foetuses survive until birth these conditions result in respiratory failure and in futile attempts to rescue the infant’s life. Results Autopsies and genetic analyses, including singleton or trio exome sequencing, were performed on five neonates/foetuses with tracheal agenesis and three foetuses with tracheal atresia. Tracheal agenesis was characterized by absence of the sublaryngeal trachea and presence of a bronchooesophageal fistula and by pulmonary isomerism and occurred as an isolated malformation complex or as part of a VACTERL association. Special findings were an additional so-called ‘pig bronchus’ and a first case of tracheal agenesis with sirenomelia. Tracheal atresia presenting with partial obliteration of its lumen and persistence of a fibromuscular streak resulted in CHAOS. This condition was associated with normal lung lobulation and single, non-VACTERL type malformations. Trio ES revealed a novel variant of MAPK11 in one tracheal agenesis case. Its involvement in tracheooesophageal malformation is herein discussed, but remains hypothetical. Conclusion Tracheal agenesis and tracheal atresia represent different disease entities in terms of morphology, pathogenesis and accompanying anomalies due to a primary developmental and secondary disruptive possibly vascular disturbance, respectively.

Background: In this study we aimed to describe the morphological and pathogenetic differences between tracheal agenesis and tracheal atresia, which are not clearly distinguished from each other in the literature, and to contribute thereby to the understanding and management of these conditions. Both tracheal agenesis and tracheal atresia represent rare disorders of still unknown aetiology that cannot be detected by prenatal ultrasound. If the affected foetuses survive until birth these conditions result in respiratory failure and in futile attempts to rescue the infant's life. Results: Autopsies and genetic analyses, including singleton or trio exome sequencing, were performed on five neonates/foetuses with tracheal agenesis and three foetuses with tracheal atresia. Tracheal agenesis was characterized by absence of the sublaryngeal trachea and presence of a bronchooesophageal fistula and by pulmonary isomerism and occurred as an isolated malformation complex or as part of a VACTERL association. Special findings were an additional so-called 'pig bronchus' and a first case of tracheal agenesis with sirenomelia. Tracheal atresia presenting with partial obliteration of its lumen and persistence of a fibromuscular streak resulted in CHAOS. This condition was associated with normal lung lobulation and single, non-VACTERL type malformations. Trio ES revealed a novel variant of MAPK11 in one tracheal agenesis case. Its involvement in tracheooesophageal malformation is herein discussed, but remains hypothetical. Conclusion: Tracheal agenesis and tracheal atresia represent different disease entities in terms of morphology, pathogenesis and accompanying anomalies due to a primary developmental and secondary disruptive possibly vascular disturbance, respectively. [ABSTRACT FROM AUTHOR]

IntroductionWe present the case of a patient with an unexpected postnatal diagnosis of tracheal agenesis, a severe and rare pathology with fewer than 200 cases documented in the literature, typically diagnosed postmortem. In our instance, early diagnosis was achieved through collaborative efforts and teamwork among various professionals. We provide illustrative images and videos to assist colleagues in identifying this congenital anomaly.Case presentationThe patient is a term newborn with prenatal indicators of polyhydramnios and a single umbilical artery. Upon birth, the infant exhibited severe respiratory distress, and orotracheal intubation via direct laryngoscopy was unfeasible. Consequently, an urgent fibrobronchoscopy, conducted by pediatric surgeons, led to the diagnosis of tracheal agenesis with tracheoesophageal fistula and the placement of a directed endotracheal tube. This intervention facilitated temporary ventilation until parental consensus on management was achieved. Following a multidisciplinary consultation, the decision was made to proceed with extracorporeal membrane oxygenation. Unfortunately, the patient experienced a prolonged refractory cardiorespiratory arrest and died after 7 h of life in his mother’s arms.ConclusionTeamwork in neonatology is indispensable when addressing emergent pathologies. In our experience, multidisciplinary management, including anesthesiologists and pediatric surgeons, should be contemplated in complex scenarios.

Tracheal agenesis (TA) is a rare congenital anomaly with an incidence of 1 per 50,000 newborns. It appears at birth with severe respiratory distress, cyanosis, and inaudible crying. Prompt esophageal intubation and long-term management of the esophageal airway are essential to overcome this catastrophic condition. In the long-term management, external stenting of the esophageal airway has been reported as promising to support the fragile esophageal wall; this technique was taken from the surgery for tracheomalacia. We experienced a case of an infant with tracheal agenesis whose respiratory status was stabilized after external esophageal stenting. The stenting was performed based on a lesson learned in the extensive experience in the surgical treatment for tracheomalacia, and the surgical techniques for successful stenting are herein described. [ABSTRACT FROM AUTHOR]

Background: Innovation is broadly defined as the act of introducing a new product, idea, or process. The field of surgery is built upon innovation, revolutionizing technology, science, and tools to improve patient care. While most innovative solutions are aimed at problems with a significant patient population, the process can also be used on orphan pathologies without obvious solutions. We present a case of tracheal agenesis, a rare congenital anomaly with an overwhelming mortality and few good treatment options, that benefited from the innovation process and achieved survival with no ventilator dependence at three years of age. Methods: Utilizing the framework of the innovation process akin to the Stanford Biodesign Program, 1) the parameters of the clinical problem were identified, 2) previous solutions and existing technologies were analyzed, newly invented solutions were brainstormed, and value analysis of the possible solutions were carried out using crowd wisdom, and 3) the selected solution was prototyped and tested using 3D modeling, iterative testing on 3D prints of actual-sized patient parts, and eventual implementation in the patient after regulatory clearance. Results: A 3D-printed external bioresorbable splint was chosen as the solution. Our patient underwent airway reconstruction with “trachealization of the esophagus”: esophageotracheal fistula resection, esophagotracheoplasty, and placement of a 3D-printed polycaprolactone (PCL) stent for external esophageal airway support at five months of age. Conclusions: The innovation process provided our team with the guidance and imperative steps necessary to develop an innovative device for the successful management of an infant survivor with Floyd Type I tracheal agenesis. Article summary: We present a case of tracheal agenesis, a rare congenital anomaly with an overwhelming mortality and few good treatment options, that benefited from the innovation process and achieved survival with no ventilator dependence at three years of age.The importance of this report is to reveal how the innovation process, which is typically used for problems with significant patient population, can also be used on orphan pathologies without obvious solutions.

Tracheal agenesis (TA) is a rare congenital anomaly with an incidence of 1 per 50,000 newborns. It appears at birth with severe respiratory distress, cyanosis, and inaudible crying. Prompt esophageal intubation and long-term management of the esophageal airway are essential to overcome this catastrophic condition. In the long-term management, external stenting of the esophageal airway has been reported as promising to support the fragile esophageal wall; this technique was taken from the surgery for tracheomalacia. We experienced a case of an infant with tracheal agenesis whose respiratory status was stabilized after external esophageal stenting. The stenting was performed based on a lesson learned in the extensive experience in the surgical treatment for tracheomalacia, and the surgical techniques for successful stenting are herein described.

Background. Tracheal agenesis (TA) is a rare congenital defect that consists of a complete or partial absence of the trachea below the larynx, with or without tracheoesophageal fistula (TEF). It is a severe congenital defect with a very high mortality rate. The recommended surgical approach is esophageal ligation and gastrostomy. Despite the progress in reconstructive surgical techniques, the outcome of the anomaly is still very poor. We described a case of TA with a TEF in a female newborn with a hemivertebra, single ventricle, single atrioventricular valve, single atrium, and cardiac left isomerization. Case. The patient, who was born at 37 weeks of age, was diagnosed with imaging methods, as the cyanosis did not improve despite being intubated many times in the delivery room; the cyanosis improved after esophageal intubation. Despite all life support treatment, the patient died on the fourth day of life. At autopsy, tracheal agenesis was diagnosed. Conclusions. In newborns who cannot be intubated in the delivery room or whose lungs cannot be ventilated despite being intubated and whose cyanosis cannot be corrected, tracheal agenesis should be considered and ventilation with esophageal intubation should also be tried. [ABSTRACT FROM AUTHOR]

We describe, the clinical presentation of a rare case of Tracheal Agenesis in a preterm infant and we highlight magnetic imaging resonance (MRI) and autopsy findings to better characterize this anomaly. A 30-year-old female presented for acute polyhydramnios at 30 weeks gestation of a male foetus. Prenatal MRI was performed and excluded this diagnosis. After delivery, the neonate presented a respiratory distress. The laryngoscopy control of tube position concluded to an esophageal intubation. A second reading of antenatal MRI was made. An autopsy was performed. The internal examination of the organs revealed broncho-oesophageal fistula. The upper airways were obstructed at the larynx. Fetal MRI should be interpreted with caution when Tracheal Agenesis is highly suspected.

We herein report the 14-year-follow-up of a patient with tracheal agenesis (TA) after reconstruction of the airway and alimentary tract. A 2536-g female infant was diagnosed with TA of Floyd’-s type 1. Her condition was stabilized by the direct insertion of a ready-made endotracheal tube into a tracheo-esophageal fistula, after birth. At seven days old, she underwent esophageal transection, gastrostomy, and cervical esophageal division, and distal cervical esophagostomy was created as a neo-trachealized esophagus.During early infancy, a ready-made endotracheal tube had been used as an internal esophageal stent. At 7 months old, a custom-made long tracheostomy tube was substituted, which was revised according to her growth, and her respiratory condition became stable thereafter. At 7 years old, her alimentary tract was reconstructed using a gastric tube, and the post-operative course was uneventful; she eventually achieved oral intake 5 years after this surgery. She is now 14 years and 5 months old, and shows a substandard height and weight, with a slower-than-normal neurologic and physiologic development for her age. As a result, she currently attends a special-needs school. We also reviewed six other long-term survival cases to date. The present report seems to describe the longest-term outcome of a patient with TA.

Introduction: Tracheal agenesis (TA) is rare and usually fatal. Few survivors with concomitant tracheoesophageal fistulae (TEF) who underwent ligation of the distal esophagus with creation of a spit-fistula and neo-trachea from the proximal esophagus exist. We report a novel surgical technique whereby the esophagus is divided longitudinally to preserve a functional alimentation tract and a parallel neo-trachea. We review the literature of reported cases, including survivors beyond 12 months. Methods: Case report and literature review. Results: A female infant with prenatal polyhydramnios was born at 35 weeks gestation with immediate respiratory distress and absent cry. Oxygenation was maintained with a laryngeal mask airway. Despite a normal appearing larynx, she could not be intubated and emergent neck exploration disclosed no cervical trachea. The patient was placed on extra corporeal membranous oxygenation (ECMO), and later diagnosed with TA, Floyd Type I. Parental desire for reconstruction but refusal of a spit-fistula necessitated a novel procedure. The esophagus was divided longitudinally via a microstapler to preserve the original alimentary tract and create a parallel neo-trachea originating from the TEF and terminating as a cervical stoma. The healing process was complicated but the baby was ultimately discharged to home where she developed normally neurologically until succumbing one night to accidental decannulation at 16 months of age. Conclusion: We describe a novel surgical approach to manage TA. This includes avoiding creation of a spit fistula and preserving the native esophagus. We then survey the literature, reporting the survivorship duration and operative management of 174 reported cases of TA. [ABSTRACT FROM AUTHOR]

The article focuses on a rare case of long-term survival in an infant with tracheal agenesis who underwent esophageal reconstruction. Topics include the diagnosis and management of tracheal agenesis, the challenges of respiratory support and esophageal reconstruction, and the use of jejunal reconstruction in esophageal replacement with a Roux-en-Y anastomosis.

A preterm female presented with severe respiratory distress in the delivery room and was found to have tracheal agenesis with a tracheoesophageal fistula and a congenital heart defect. Tracheal agenesis is uncommon and is often associated with other congenital abnormalities. Although there are surgical options for repair, mortality remains high. [ABSTRACT FROM AUTHOR]

We discuss two cases of congenital airway malformations seen in our neonatal intensive care unit (NICU). The aim is to report extremely rare events characterized by immediate respiratory distress after delivery and the impossibility to ventilate and intubate the airway. The first case is a male twin born at 34 weeks by emergency caesarean section. Immediately after delivery, the newborn was cyanotic and showed severe respiratory distress. Bag-valve-mask ventilation did not relieve the respiratory distress but allowed for temporary oxygenation during subsequent unsuccessful oral-tracheal intubation (OTI) attempts. Flexible laryngoscopy revealed complete subglottic obstruction. Postmortem analysis revealed a poly-malformative syndrome, unilateral multicystic renal dysplasia with a complete subglottic diaphragm, and a tracheo-esophageal fistula (TEF). The second case is a male patient that was vaginally born at 35 weeks. Antenatally, an ultrasound (US) arose suspicion for a VACTERL association (vertebral defects, anal atresia, TEF with esophageal atresia and radial or renal dysplasia, plus cardiovascular and limb defects) and a TEF, and thus, fetal magnetic resonance (MRI) was scheduled. Spontaneous labor started shortly thereafter, before imaging could be performed. Respiratory distress, cyanosis, and absence of an audible cry was observed immediately at delivery. Attempts at OTI were unsuccessful, whereas bag-valve-mask ventilation and esophageal intubation allowed for sufficient oxygenation. An emergency tracheostomy was attempted, although no trachea could be found on cervical exploration. Postmortem analysis revealed tracheal agenesis (TA), renal dysplasia, anal atresia, and a single umbilical artery. Clinicians need to be aware of congenital airway malformations and subsequent difficulties upon endotracheal intubation and must plan for multidisciplinary management of the airway at delivery, including emergency esophageal intubation and tracheostomy. [ABSTRACT FROM AUTHOR]

Tracheal agenesis – failure of trachea development - is an extremely rare and severe congenital disorder involving the respiratory system and in most cases it is associated with other abnormalities. Three anatomic types of tracheal agenesis were described by Floyd. Antenatal diagnosis is difficult, especially if it is combined with a tracheo-oesophageal fistula. We report a postnatally diagnosed case of a female newborn with Type II tracheal agenesis. Polyhydramnios and right upper limb anomaly were diagnosed prenatally. Only typical postnatal clinical signs, such as severe asphyxia with strong respiratory efforts, no audible cry, failed endotracheal intubation and no palpable tracheal tissue on the neck aroused suspicion of tracheal agenesis. Despite the few published cases when antenatal diagnosis of tracheal agenesis and series of heroic postnatal surgical interventions resulted in few years’ survival, tracheal agenesis is still considered as a lethal condition. Possibilities of antenatal diagnosis, postnatal management and therapeutic options are discussed.

Pulmonary artery sling (PAS) and tracheal agenesis (TA) are rare diseases, and most cases of PAS are associated with tracheal bronchial malformations. However, PAS associated with TA is yet to be reported. We report a case of PAS with TA diagnosed prenatally. Due to the extremely low incidence, physicians do not have sufficient understanding of these diseases and it is challenging to diagnose these diseases by prenatal ultrasound, with high rates of misdiagnosis. Prenatal examination of the pulmonary artery branches, trachea, and esophagus is useful; therefore, improving the accuracy of prenatal diagnosis will help in perinatal management and counseling. [ABSTRACT FROM AUTHOR]

Congenital high airway obstruction syndrome (CHAOS) is a rare sequence due to a complete obstruction of the fetal airway that blocks the larynx or trachea, either intrinsic atresia or extrinsic compression (e.g., congenital neck mass). Despite the true incidence of CHAOS is unknown, an incidence of 1 per 50,000 newborns is described. If any obstruction occurs in the tracheobronchial airway, this secretion cannot be extricated. Because of this situation, a knock-on effect starts: the enlargement of the lungs squeezes the heart and great veins, what results in a replacement of the heart to the center of the chest becoming small and dysfunctional. Decreased venous return and the failure of cardiovascular system end in ascites and hydrops. The diaphragm planes or inverts according to the severity of the process. In case of unrecognized syndrome during the prenatal period, it usually results in stillbirth or death shortly after delivery. The overall prognosis remains fatal, and long-term medical and surgical challenges for survivors remain considerable even after overcoming fetal intervention.

We discuss two cases of congenital airway malformations seen in our neonatal intensive care unit (NICU). The aim is to report extremely rare events characterized by immediate respiratory distress after delivery and the impossibility to ventilate and intubate the airway. The first case is a male twin born at 34 weeks by emergency caesarean section. Immediately after delivery, the newborn was cyanotic and showed severe respiratory distress. Bag-valve-mask ventilation did not relieve the respiratory distress but allowed for temporary oxygenation during subsequent unsuccessful oral-tracheal intubation (OTI) attempts. Flexible laryngoscopy revealed complete subglottic obstruction. Postmortem analysis revealed a poly-malformative syndrome, unilateral multicystic renal dysplasia with a complete subglottic diaphragm, and a tracheo-esophageal fistula (TEF). The second case is a male patient that was vaginally born at 35 weeks. Antenatally, an ultrasound (US) arose suspicion for a VACTERL association (vertebral defects, anal atresia, TEF with esophageal atresia and radial or renal dysplasia, plus cardiovascular and limb defects) and a TEF, and thus, fetal magnetic resonance (MRI) was scheduled. Spontaneous labor started shortly thereafter, before imaging could be performed. Respiratory distress, cyanosis, and absence of an audible cry was observed immediately at delivery. Attempts at OTI were unsuccessful, whereas bag-valve-mask ventilation and esophageal intubation allowed for sufficient oxygenation. An emergency tracheostomy was attempted, although no trachea could be found on cervical exploration. Postmortem analysis revealed tracheal agenesis (TA), renal dysplasia, anal atresia, and a single umbilical artery. Clinicians need to be aware of congenital airway malformations and subsequent difficulties upon endotracheal intubation and must plan for multidisciplinary management of the airway at delivery, including emergency esophageal intubation and tracheostomy.

Introduction: Tracheal agenesis and tracheal stenosis are rare, fatal congenital anomalies and are an acute neonatal emergency. It may be an isolated anomaly or may be associated with other congenital anomalies. Affected newborns present with inaudible cry, rapidly developing respiratory distress soon after birth rendering endotracheal intubation impossible. Despite the surgical management in these cases in experienced hands, the survivability of the newborn remains poor. Congenital High Airway Obstruction Syndrome (CHAOS), a clinico-pathological condition, complicates it further leading to fatality even with the absence of airway-oesophageal fistula. Tracheal anomalies usually form a part of VATER/VACTERL association, which includes anomalies of vertebrae (V), anal canal (A), renal (R) with Tracheo-Oesophageal fistula (TE). Radial dysplasia, cardiac anomalies and nonradial limb anomalies were later added to make it VACTERL. Perinatal autopsies performed in these cases give valuable insights to the treating physicians and surgeons about the severity of these anomalies. Aim: Since this is a very rare and lethal anomaly, we undertook this study to know the hospital based incidence and to carry out a detailed autopsy study to look for type of tracheal anomaly and other associated abnormalities. Materials and Methods: All the dead newborns and aborted fetuses which were sent for autopsy to Pathology department were examined for tracheal anomalies after obtaining the informed consent. Anthropometry was measured with respect to gestational age and analysed for external anomalies and a detailed dissection of the body was carried out. The anatomic relations of each visceral organ, structural abnormalities and histopathologic examinations were examined. Faro classification was used for type of tracheal agenesis. Results: Of the 1152 perinatal autopsies performed over a 13- year period, five cases were identified of having agenesis or stenotic tracheal anomaly. Of these, four had tracheal agenesis and one had tracheal stenosis. Three of the tracheal agenesis cases were syndromic; first was associated with VACTERL and caudal regression type V, second with VATER and third with CHAOS. As per Faro classification, two cases of type C and one each of type B and F tracheal agenesis were identified. The tracheal stenosis case also was syndromic, having VATER, CHAOS and persistent mullerian duct syndrome. Maternal ultrasound examination revealed oligo/polyhydramnios in three of these cases. Conclusion: This study highlights the significance of poly or oligohydramnios during routine anomaly scan. When present, the fetuses should be examined for anomalies in trachea and other organs by radiologic investigations especially with MRI.

Tracheal agenesis is an extremely rare and typically lethal congenital disorder. Approximately 150 cases have been described since 1900, and very few cases of survival have been reported. We describe tracheal reconstruction with external esophageal stenting in a patient with Floyd’s type II tracheal agenesis. Neither long-term survival nor survival without mechanical ventilation for even a single day has previously been reported in patients with Floyd’s type II tracheal agenesis. The infant in the present case survived for almost a year and breathed without a ventilator for approximately 50 days after airway reconstruction using external supportive stents.

Tracheal agenesis is a rare and often lethal congenital defect that leads to airway emergency at birth. Computed tomography (CT) is the modality of choice to evaluate anomalous tracheal anatomy. The absence of spontaneous aeration of the tracheobronchial tree in children with tracheal agenesis makes CT interpretation difficult. We describe a procedure of airway management applied in two newborns with suspected tracheal agenesis. Correct airway management was performed immediately prior to CT examination by airway ventilation, with bag-valve mask alone in one case, and attached to an endotracheal tube placed into the esophagus in the other case. The images allowed for classification of tracheal agenesis. Computed tomography with appropriate airway ventilation is fundamental for the diagnosis of tracheal agenesis. [ABSTRACT FROM AUTHOR]

Objectives Tracheal atresia (TA) is a rare congenital condition that typically requires an unexpected and emergent resuscitation in the delivery room. The mortality rate associated is very high, with only a few long-term survival cases reported. We describe the findings of a systematic review on the clinical presentation and airway management of TA. Methods Using the keywords “tracheal atresia”, “tracheal agenesis” and “tracheal hypoplasia” a search through Embase and Pubmed databases was performed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) protocol. Articles published from 1950 to 2015 in English, French, Italian, Portuguese and Spanish were included. Exclusion criteria were cases of stillborn, and unclear diagnosis or outcome. Results 149 cases of TA were identified after reviewing 1125 initial references. There was a male preponderance (65%), and associated malformations were described in 94.2% of patients. Prenatal ultrasound was abnormal in 56.3% of cases, with polyhydramnios being the most common finding. The most frequent type of TA was Faro Type C. 94 (41.3%) patients did not survive beyond the first 24 h of life. Only 13 (8.4%) patients survived more than three months of life, after undergoing a variety of surgical approaches. Conclusion This review, which to our knowledge is the largest one to date, confirms that TA is a rare malformation, occurs more frequently in males, and has a very high mortality rate. Depending on the presence and type of concomitant malformation, as well of the length of the remaining trachea, different surgical management options are described. [ABSTRACT FROM AUTHOR]

Background: Handling neonates with postnatal respiratory failure due to congenital airway malformations implies knowledge about emergency management of unexpected difficult airway. In these stressful situations both technical and communication skills of the caretakers are essential.Case Presentation: Two cases with prenatally unknown tracheal agenesis are reported.Conclusion: In the presented cases, airway malformation and subsequent difficulties upon endotracheal intubation were not adequately communicated between caretakers. We discuss the aspects of culture, communication, and capnography. [ABSTRACT FROM AUTHOR]

Tracheal agenesis (TA) is a very rare congenital malformation of unknown aetiology. It is often associated with polymalformative syndromes; the neonates commonly present a critical condition during post-natal treatment. Pathology revolves around the triad of aphonia, respiratory distress syndrome and impossibility of endotracheal intubation. In contrast to the most important differential diagnosis, i. e., congenital high airway obstruction syndrome (CHAOS), surgical airway management is also impossible due to the absence of tracheal structures. In most cases, prognosis is very poor. The case report at hand portrays the treatment of a neonate suffering from tracheal agenesis. [ABSTRACT FROM AUTHOR]

Tracheal agenesis is an extremely rare, typically fatal congenital anomaly characterised by typical clinical manifestation, failed endotracheal intubation and difficult emergency management. The prognosis and possibility of surgical correction rest on early diagnosis, anatomy, birth weight, and associated anomalies. Tracheal agenesis causes considerable resuscitation difficulties immediately after birth, as tracheal intubation is impossible. Although emergency management, by either bag and mask ventilation or oesophageal intubation, provides some pulmonary gas exchange through tracheo-oesophageal connection, they are associated with overdistension of the stomach and the risk of stomach perforation. We have performed selective intubation of the distal trachea in a child with tracheal agenesis through the tracheo-oesophageal connection with the help of a fibroendoscope. A standard guide wire was passed through the working port of the flexible endoscope and under direct vision was directed through the tracheo-oesophageal connection into the distal trachea. At this point, the endoscope was removed, leaving the guide wire in place. The endotracheal tube size 2 Fr was passed over the guide wire into the distal trachea. The infant showed dramatic improvement and maintained good saturations on mechanical ventilation. The infant was taken for a computed tomography (CT) scan, which showed Floyd’s type II tracheal agenesis, the oesophagus connecting with the distal trachea before it bifurcates. The endotracheal tube was seen ending in the carina. Transoesophageal intubation of the short distal segment of the trachea through the tracheo-oesophageal connection might offer a new perspective for short-term securing of the airway in a child with tracheal agenesis and should be considered in any child with suspected tracheal agenesis to buy the time while evaluating the exact anatomy of the anomaly and the possibility of tracheal reconstruction in selected cases.

A broad spectrum of congenital upper airway anomalies can occur as a result of errors during embryologic development. In this review, we will describe the clinical presentation, diagnosis, and management strategies for a few select, rare congenital malformations of this system. The diagnostic tools used in workup of these disorders range from prenatal tests to radiological imaging, swallowing evaluations, indirect or direct laryngoscopy, and rigid bronchoscopy. While these congenital defects can occur in isolation, they are often associated with disorders of other organ systems or may present as part of a syndrome. Therefore workup and treatment planning for patients with these disorders often involves a team of multiple specialists, including paediatricians, otolaryngologists, pulmonologists, speech pathologists, gastroenterologists, and geneticists. [ABSTRACT FROM AUTHOR]

Tracheal Agenesis (TA) presents with respiratory distress at birth. Diagnosis requires recognition of clinical signs in newborns like failure of endotracheal intubation, respiratory distress with absent air entry over both side of chest and inaudible cry. We describe a TA Floyd Type I with a Tracheo-Oesophageal Fistula (TOF) without other congenital malformations.

Abstract: Tracheal agenesis is a rare and potentially lethal congenital anomaly. The incidence is less than 1/50,000, with a male:female ratio of 2:1. We report the case of a male fetus with complete agenesis of the trachea and a tracheoesophageal fistula arising from the esophagus that connected through the carina, as well as several abnormalities (congenital cardiac abnormalities, duodenal atresia, vertebral defects, anal atresia, renal defects, limb defects, and diaphragmatic hernia). To our knowledge, few cases of infants with VACTERL or TACRD association have been reported to date. Here, we report a new case of a fetus that showed the full range of VACTERL and TACRD associations. [Copyright &y& Elsevier]

Tracheal agenesis is a rare and essentially lethal anomaly with divergent prenatal imaging findings depending on the presence or absence of a tracheoesophageal fistula. All prenatally diagnosed cases of tracheal agenesis reported to date have not had a tracheoesophageal fistula and presented with thoracoabdominal findings similar to congenital high airway obstruction syndrome. We present the case of a 32-week gestation fetus with rapid onset of polyhydramnios and no persistent findings of congenital high airway obstruction syndrome that was ultimately diagnosed with tracheal agenesis plus tracheoesophageal fistula by fetal MRI. Additionally, we present the novel uses of intraoperative US during a staged ex utero intrapartum therapy delivery and postdelivery MRI, facilitated by proximity within the neonatal ICU, to confirm diagnosis and direct patient management while minimizing unnecessary investigations. [ABSTRACT FROM AUTHOR]

Tracheal agenesis is an extremely rare usually fatal congenital anomaly presenting with respiratory distress and aphonia. We present a case of tracheoesophageal fistula, in which an endotracheal tube failed to be placed; alternatively the infant was partially venitlated via an endoesophageal tube. A delayed transfer of the infant and inability to perform an urgent tracheostomy led to the infant's demise. Floyd described 3 different phenotypes of tracheal agenesis. The anomaly is thought to be due to errors in development occurring during the division of the foregut into the esophagus and the trachea. Affected neonates uniformly present in the immediate postnatal period with severe respiratory distress and aphonia. Endotracheal intubation is difficult, often with multiple failed attempts and inability to advance the tube below the vocal cords. Ventilation with a tube placed in the esophagus can temporarily sustain life in the presence of a fistula as in this case. The condition can occur in isolation or in association with malformations in organ systems other than the lungs, airway and esophagus. New approaches for reconstruction of the trachea have been reported and regenerative medicine may have a future role. [ABSTRACT FROM AUTHOR]

Tracheal agenesis (TA) is a severe congenital disorder with often an unexpected emergency presentation. There is complete or partial absence of the trachea below the larynx, with presence or absence of a tracheoesophageal fistula (TOF). A neonate with TA is described, and another 48 cases found in literature are reviewed. Due to absence of a TOF, five cases were diagnosed prenatally because of congenital high airway obstruction syndrome (CHAOS). When a TOF is present, polyhydramnion and several other congenital malformations seen on the ultrasound examination should alert clinicians of potential tracheal problems. Prenatal magnetic resonance imaging (MRI) may provide a definitive diagnosis. Postnatal diagnosis is based on recognition of specific clinical signs in the newborn with TA: respiratory distress with breathing movement without appropriate air entry, no audible cry, and failed endotracheal intubation. Despite progress in surgical interventions, mortality remains high. Prenatal diagnosis of TA is possible, but only if a TOF is absent resulting in CHAOS. Prenatal diagnosis of polyhydramnion and other congenital malformation should alert clinicians of potential tracheal problems. Prenatal MRI may provide a definitive diagnosis. [ABSTRACT FROM AUTHOR]