Tracheal agenesis. A case report and literature review

Tracheal agenesis (TA) is a rare congenital anomaly that is incompatible with prolonged life. It occurs in isolation or in association with other anomalies. The affected neonate presents with respiratory distress and is unable to produce an audible cry despite obvious physical effort. A difficult intubation ensues, and often only during a postmortem examination is the diagnosis of TA made. It is hoped that in addition to adding the 47th case of TA to the literature, this article will provide some insight into the pathogenesis, presentation, and management of this anomaly. It must be emphasized that as TA carries a fatal prognosis, great care must be taken in establishing the diagnosis. If the diagnosis is confirmed, complex reconstructive surgery is not recommended as it has not been shown to change the prognosis or clinical course of affected neonates.     

Tracheal agenesis.

Tracheal agenesis is a catastrophic congenital anomaly that invariably results in death. Forty-seven cases have been previously reported in the literature. We add five additional cases, including two type 1 cases, two type 2 cases, and one type 3 cases, based on Floyd's classification scheme. We describe the features of this unusual anomaly at the time of diagnosis. We discuss a rational approach to the management of this difficult problem on an emergent basis that allows for the maintenance of the infant's life until all of the implications of this fatal condition can be assessed. While we do not advocate reconstructive surgery for this anomaly, which has been universally fatal, we discuss the potential rearrangement of the anatomy, which may offer some hope in future cases. The concomitant congenital anomalies associated with these cases are reviewed, and autopsy specimens are presented for their anatomic interest.     

Tracheal agenesis: two case reports

Tracheal agenesis is a rare and uniformly lethal congenital malformation. It presents with severe respiratory distress at birth. In this anomaly there is a congenital absence of the trachea and the bronchus communicates with the esophagus. The diagnosis should be suspected in newborn infant with respiratory distress whose intubation is impossible. This report describes our experience in two such cases.     

Tracheal agenesis

Congenital anomalies of the tracheobronchial tree must be included in the differential diagnosis of children with symptoms of respiratory distress. Tracheal agenesis is a rare major congenital anomaly that has been uniformly fatal. Diagnosis requires a high index of suspicion utilizing roentgenographic and endoscopic examinations.     

Tracheal agenesis

Tracheal agenesis, though seemingly rare and fatal to date, has been reported with increasing frequency. Establishment of the diagnosis necessitates a high index of suspicion in an infant in respiratory distress an birth, without a cry and in whom intubation is difficult. We report a case of tracheal agenesis.     

Tracheal haemangioma: case report

A case of lobular capillary haemangioma of the trachea is presented. The patient gave a history of foreign body sensation in the throat and multiple episodes of haemoptysis. The chest X-ray was normal. A spiral computed tomograph (CT) with three-dimensional reconstruction revealed a small tracheal mass in the antero-lateral wall of the trachea, which was excised by endoscopy. The histopathological diagnosis was lobular capillary haemangioma, a rare, benign tumour of the trachea. A high index of suspicion with the spiral CT finding was responsible for early diagnosis of the tumour.     

Tracheal agenesis with broncho-esophageal fistula

Intubation of the esophagus during efforts to resuscitate a newborn may result is disaster; (FN1) however, in one disease this may be the only method of providing an airway. This communication reports our experience with a newborn infant who had an unusual tracheal abnormality, and emphasizes the findings which aid in the diagnosis.     

Tracheal diverticulum: A case report and literature review

Purpose

Tracheal diverticulum (TD) is a rare, nonspecific symptom that is commonly associated with other malformations in clinical presentation and appearance on imaging. The case presented and the literature review performed highlight the importance of combining 3 D reconstruction technology and computerized Tomography (CT) results to better characterize TD on the list of differential diagnoses of patients.

Methods

The case described is of a 44-year-old male with a 1-year history of repeatedly coughing with white phlegm. Computerized tomography and three dimension reconstruction technology were employed to diagnose tracheal abnormalities. The patient underwent surgical resection of the tracheal diverticulum. Reexamination of the neck, chest, trachea and lungs of the patient was performed with CT scan post operation.

Results

Chest CT confirmed the presence of the air cavity lesion behind the neck segment and may be the trachea cysts. Bronchoscope examination was all normal. Furthermore, HRCT scan and the tracheal reconstruction were performed (as shown in Fig. 1), which show cystic cavity lesion was on right rear trachea and a tiny tha was connected the tracheal posterior wall. Post-operation, reexamination showed that the neck, chest CT, trachea and lungs had no detectable abnormity.

Conclusion

Diagnostic techniques such as HRCT and 3D reconstruction technology may help to diagnose the tracheal diverticulum timely and accurately. Resection of the diverticulum is the proper surgery, but only for symptomatic congenital diverticulum; therefore preoperative definite classification is important (acquired or congenital diverticulum).     

Tracheal paraganglioma: a case report

Paragangliomas are neuroendocrine tumors that originate from extra-adrenal chromaffin cells. The trachea is an unusual site for paragangliomas. A 29-years-old female was admitted to our clinic with complaints of recurrent hemoptysis and dyspnea, and a 1.5x1.3 cm mass in the posterior wall of the trachea, which was subsequently diagnosed as a paraganglioma. In this report, we presented the 11th case of tracheal paraganglioma, a rare benign tracheal tumor, and reviewed the medical literature.     

Tracheal diverticulum: a case report

Tracheal diverticulum is a clinical entity rarely reported in the literature. It results from a congenital or acquired weakness of the tracheal wall. Most tracheoceles cause few symptoms and are well tolerated. Diagnosis is often based on computerized tomography (CT) scan findings. We describe a case of a middle-aged male presenting non-specific pharyngeal discomfort. A diagnosis of tracheal diverticulum was made based on a cervical CT scan.     

Tracheal agenesis: diagnosis and management

Tracheal agenesis (TA) is a rare congenital anomaly that typically has fatal consequences. Its rarity, lack of prenatal symptoms, and emergent presentation usually lead to a failure to arrive at the correct diagnosis and manage the airway properly before the onset of irreversible cerebral anoxia. We report the case history of an infant born with immediate respiratory failure who was diagnosed with tracheal agenesis. The clinical features, embryology, classification schemes and surgical management are discussed with the hope that increased awareness and earlier diagnosis may lead to better chances of survival for affected individuals.     

Unilateral inferior turbinate agenesis: a case report

Many common anatomic variations in the nasal cavity have been observed, including paradoxical turbinates and pneumatization of the inferior, middle, and superior turbinates. We describe a case of a rare anomaly-unilateral inferior turbinate agenesis-in a 65-year-old man who had presented with epistaxis. During evaluation, anterior rhinoscopic examination revealed the absence of the right inferior turbinate; this finding was confirmed on computed tomography. The patient had never undergone nasal or sinus surgery, and he denied ever having expelled anything of significance from his nasal cavity. This case merits attention because of the rarity of reports on turbinate agenesis.     

Congenital os vomer agenesis: case report and literature review

Defects of the nasal septum occur as a result of a variety of causes, including tuberculosis, irritation, neoplasia, trauma, infection, and chronic inflammatory diseases. Congenital os vomer agenesis as a cause is very rare. We report the case of a 28-year-old man with a defect in the posteroinferior part of the nasal septum that was discovered incidentally during a routine endoscopic examination. The patient was diagnosed with congenital os vomer agenesis, and the diagnosis was confirmed by computed tomography. We discuss the features of this case and review the literature on this rare anomaly.     

Tracheal rupture in complicated delivery: A case report and review of the literature

A case of distal tracheal rupture is described, literature review reveals two previously reported cases of neonatal distal tracheal rupture, as well as 14 cases of anterior subglottic rupture. All patients had shoulder dystocia, and 59% had associated brachial plexus injury. Delayed diagnosis (>3 days) was common in the distal tracheal group (66%), compared to 0% in the anterior subglottic group. The 2 distal tracheal rupture patients were initially managed conservatively, but ultimately required open repair. Distal tracheal rupture is exceedingly rare and more difficult to diagnose and manage than the more common anterior subglottic rupture.     

A case of major salivary gland agenesis

Major salivary gland agenesis is a rare disorder and only a few instances of the condition have been reported. The number of absent salivary glands and the degree of associated xerostomia vary between individuals. Salivary gland agenesis can cause profound xerostomia in children and there may be oral and upper respiratory tract sequelae, such as dental caries, candidiasis, ascending sialadenitis, laryngitis and pharyngitis. Salivary gland aplasia may be associated with other ectodermal defects, particularly abnormalities of the lacrimal apparatus. We report on the first observation of major salivary gland agenesis in South Korea. A child with xerostomia should be appropriately investigated and diagnosed, and careful attention should be paid to the prevention and treatment of sequelae.