SURGICAL TREATMENT OF TRACHEAL AGENESIS

SURGICAL T R E A T M E N T OF TRACHEAL AGENESIS Eric W. Fonkalsrud,

M.D., Robert R. Martelle, M.D.,

fames V. Maloney, Jr., M.D., Los Angeles,

T

and

Calif.

agenesis is an extremely rare congenital anomaly; only 12 cases have been reported in the world's literature. Interest has been directed at this unusual malformation only as a medical curiosity, since none of the infants have survived the immediate postpartum period. This report will detail what the authors believe to be the first instance of tracheal agenesis in which the patient was treated surgically and survived for a period of time. The first reported case of congenital absence of the trachea was presented by Payne in 1900.12 In this patient there was no communication between the esophagus and the bronchial tree. The 2 main-stem bronchi were connected by a slender cross passage and the larynx was normal. The infant died at birth. In subsequent years, 11 additional cases have been reported. 2 ' 3 ' 5 - 7 - °~" Invariably, the infants were dead at birth or died shortly thereafter. Autopsy demonstrated a communication between the bronchi and the esophagus in most instances. In some cases the bronchial system of the right and left lungs were interconnected by a straight bronchial tube which communicated through a fistula to the esophagus. In other instances, the right and left main-stem bronchi were normally formed and a communication existed between the bronchial system and the esophagus at the level of the carina. In the infant reported by Walcher, u the 2 main-stem bronchi originated from the esophagus separately. The majority of infants had a normally formed larynx and Vocal cords, but, in some instances, these structures were absent. As in patients with the more common type of tracheoesophageal fistula, associated anomalies were frequently encountered. RACHEAL

EMBRYOLOGY

The embryonic respiratory system makes its appearance in the 3 mm. fetus, according to Arey. 1 At this stage the longitudinal laryngotracheal groove appears on the ventral surface of the primitive gut. Lateral projections invaginate and divide the ventral respiratory tube from the dorsal digestive tube. The caudad end of the laryngotracheal groove buds to form the bronchi and lungs Prom the Departments of Surgery and Pediatrics, University of California Medical Center, Los Angeles, Calif. This study was supported by U. S. Public Health Service Grants H-2812 and HTS-5357. Received for publication Aug. IS, 1962. 520

Vol. 45, No. 4 April, 1963

TRACHEAL A G E N E S I S

521 °*±

with further subdivisions forming bronchioles and alveoli. The cephalic end opens into the gut tube only as a laryngeal slit. This progression is completed by the 4 mm. stage. Keith and Spicer 8 believe that most anomalies of the trachea and esophagus are due to an incomplete lateral fusion of the early tracheoesophageal grooves which form a septum between the trachea and esophagus. Gruenwald 6 states that esophageal atresia occurs when the laryngotracheal tube fails to separate from the esophagus in the proper time sequence, so that the early caudad growth of the trachea stretches out the common portion and incorporates esophagus into trachea. Similarly, Devenis3 has suggested that, in the "stretching o u t " process, the trachea becomes eliminated and the common portion becomes the esophagus. On the other hand, Fluss and Poppen 4 suggest that the tracheoesophageal anomalies occur in association with anomalous blood vessels. The relative frequency of esophageal atresia as compared to tracheal agenesis has not been well explained on the basis of existing embryologic theories. CASE REPORT The patient was a white female born on Nov. 6, 1961, following a 43 week pregnancy. The 21-year-old mother was Bh positive and gravida 2, p a r a 1, and had an uneventful prenatal course. A diagnosis of ventricular septal defect had been made on the living sibling. The infant was delivered by elective low forceps under light halothane anesthesia after 5 hours of normal active labor. The birth weight was 2.3 kilograms. Following birth the infant remained pale, flaccid, and apneic. A large, tenacious plug of mucous was aspirated from the posterior pharynx. The infant was resuscitated with a positive-pressure respirator and humidified oxygen. An oropharyngeal tube was inserted with some difficulty. Positivepressure respiration was continued for one hour before the infant made spontaneous respiratory efforts. Shortly thereafter the tube was removed and the airway immediately became obstructed. The tube was re-inserted and respirations again became regular. The tube was left in place for approximately 12 hours, at which time attempted extubation again produced respiratory obstruction. The tube was replaced while preparations were made to perform a tracheostomy. A solitary tubular structure without cartilaginous rings was exposed and the tracheostomy tube was inserted with immediate improvement in respiration. When aspiration of the tracheostomy tube was attempted, the suction catheter passed readily into the stomach, and respiratory obstruction recurred. Radiopaque dye was instilled through the tracheostomy tube and demonstrated that the tracheostomy tube had been inserted into the esophagus. The dye passed through a small fistulous communication to a common bronchus, extending transversely between the right and left main-stem bronchi caudad to the usual position of the carina. Attempted bronchoscopy showed an obstruction just below the glottic chink. Accordingly, the diagnosis of bronchoesopliageal fistula with tracheal agenesis was made (Fig. 1 ) . The infant was found to have a large firm mass in the right flank, thought to represent the kidney. Except for a generally flaccid appearance, no other abnormalities were detected at birth. The infant had passed meconium shortly following delivery and air was seen throughout the small bowel in abdominal roentgenograms. Presented with the diagnosis as described in an infant who had survived its first 36 hours of life, the major surgical considerations appeared to be (1) to verify the diagnosis, (2) to construct an airway communicating between the common bronchus and the skin, (3) to prevent regurgitation of gastric contents into the bronchial tree, (4) to prevent aspiration of salivary secretions, and (5) to provide a feeding gastrostomy. With the diagnosis thus established, the patient was operated upon with halothane anesthesia administered through the tracheostomy tube and a right posterolateral thoracotomy made through the fourth intercostal space. A small nasogastric tube was inserted to decompress the gastric distention caused by the positive-pressure breathing applied to the esophagus.

522

FONKALSRUI), M A E T E L L E , MALONEY

J. Thoracic and Cardiovas. Surjj.

Fistula between. common bronchus and esophagus

Common, bronchus *-^t-

Fig. 1.—Diagram of tracheal agenesis and bronchoesophageal fistula prior to operation. The esophagus was explored from the thoracic inlet to the diaphragm. There was no evidence of a trachea or tracheal vestige. A fistulous tract, measuring 8 mm. in diameter, was found to extend between the esophagus and the common bronchus connecting the right and left lungs. There was no evidence of respiratory obstruction as long as the esophagus was not displaced. The esophagus was divided immediately below the fistula and both ends closed in two layers. The lower end of the tracheostomy tube was approximately 1.5 cm. above the esophagobronchial fistula. The chest was then closed. An endotracheal tube was then passed down the esophagus to the level of the fistula and the tracheostomy tube was removed. The " t r a c h e o s t o m y " (esophagostomy) wound was thoroughly explored and no evidence of a trachea found. A second cutaneous incision was made beneath the left mandible and the esophagus was exposed in this area. Several maneuvers were then quickly performed. First, the esophagus was partially divided through a midline incision over the tracheostomy tube and several sutures were quickly placed, approximating the anterior portion of the esophagus to the lower portion of the midline skin incision. The endotracheal tube was then removed and quickly re-inserted through this distal esophageal opening to maintain ventilation. The still undivided posterior portion of the esophagus was then divided. The proximal end of the esophagus was drawn through the left lateral neck wound to create a cervical esophagostomy. The remaining portion of the distal end of the esophagus was sutured to the skin to complete the opening to the respiratory tract through the bronchoesophageal fistula. A feeding gastrostomy was then created through a short upper midline abdominal incision.

Vol 45, No. 4 April, 1963

TRACHEAL A G E N E S I S

523

Following the operation the i n f a n t ' s color became good and she breathed spontaneously without difficulty. At no time during the prooperative or immediate postoperative course did there appear to be any evidence of respiratory obstruction as long as the tracheostomy tube was in place in the upper esophagus. The p a t i e n t ' s saliva now drained through the eervical esophagostomy in the left lateral neck. The upper mediastinal esophagus served as a respiratory passage to permit the patient to ventilate through the bronchoesophageal fistula (Fig. 2 ) . The distal third of the esophagus was closed a t its proximal end to prevent gastric reflux. The patient's immediate postoperative convalescence was uneventful and gastrostomy formula feedings were started on the day following operation. High humidity mist was provided through the tracheostomy tube and frequent suctioning carried out. Changes in position of the neck also initiated transient esophageal collapse. Although the i n f a n t ' s general condition was satisfactory, a mild, generalized hypotonia persisted and suggested that there had been cerebral damage at birth. The infant experienced two episodes of apnea without respiratory obstruction, one associated with cardiac arrest approximately 3 weeks after operation. On each occasion, respirations were restored following thorough esophageal suctioning and administration of humidified oxygen. The patient appeared to " c r y " but there was no phonation. After the first 4 days following operation the tracheostomy tube could be removed without causing obstruction.

Fig. 2.—Diagram of operative procedure performed to correct tracheal agenesis and bronchoesophageal fistula.

524

FONKALSRUB, MARTELLE, MALONEY

J. Thoracic and Cardiovas. Surg.

An esophagobronchogram made one month after operation revealed a 4 mm. diameter communication between the esophagus and the common bronchus with the bronchial tree well outlined. The infant was transferred to another institution for chronic care one month following operation. She experienced repeated episodes of apnea which responded t o suctioning and insertion of new tracheotomy tubes; however, she developed a pneumonia which did not resolve with antibiotics, positive-pressure respiratory assistance, and vigorous suctioning. On Dec. 18, 1961, the infant could not be resuscitated from an episode of apnea and she died exactly 6 weeks after birth. At postmortem examination an extensive pneumonia was found to involve both lungs. The esophagobronchial fistula was patent and measured 4 mm. in diameter. The trachea was absent in its entirety, with no pouch or tube extending distally from the vocal cords. A small interventricular septal defect was present and the right kidney was cystic. DISCUSSION

The case of tracheal agenesis reported here illustrates the difficulties encountered in the diagnosis and immediate treatment of patients with this unusual anomaly. When respiratory obstruction in the newborn is not relieved by insertion of an oral airway and an endotracheal tube cannot be inserted, the diagnosis of agenesis of the trachea or larynx should be considered. An attempt should be made to support the collapsible esophagus with a tube in an effort to provide air to a bronchoesophageal fistula which is present in most cases of tracheal agenesis. Chest roentgenograms, with cautious administration of radiographic medium, will probably verify the diagnosis. Insertion of a tracheostomy tube into the esophagus provides an adequate airway to the lungs and permits time for careful preparation for more definitive surgical correction of the defect. In order to prevent aspiration of either salivary or gastric fluids through the fistula, one must isolate the segment of esophagus serving as airway from both of these areas, as was done in the present case. A feeding gastrostomy is necessary until esophageal continuity can be restored. Once the initial emergency therapy is completed, the long-range management of a patient with tracheal agenesis is indeed a most challenging problem. No form of tracheal replacement is completely satisfactory in our present state of knowledge, although occasional patients have tolerated partial tracheal replacement with Lucite and other synthetic materials. Synthetic prosthetic materials, homografts, or autografts may be utilized to provide a rigid support to the soft muscular wall of the esophagus. The ciliary cleaning mechanism of the trachea is unfortunately absent in prosthetic materials used for reconstruction, and frequent tracheal suctioning is necessary. Also, with time, the discrepancy between the size of the prosthesis and the patient's chest becomes more prominent. The sites for anastomosis appear relatively clearly defined since the larynx is usually normal in these patients and a lower common bronchus or carina is usually present. Another method of management is to create a bronchocutaneous fistula which would technically, cosmetically, and functionally be very unappealing. SUMMARY

A case of agenesis of the trachea associated with bronchoesophageal fistula is presented with a brief review of 12 similar cases from the literature. The

Vol. 45, No. 4 April, 1963

TRACHEAL AGENESIS

525

difficulties encountered in the diagnosis and immediate treatment of patients with this unusual anomaly are discussed. The case reported here is believed to be the first recorded with congenital tracheal agenesis and a bronchoesophageal fistula in which the patient was treated surgically and survived beyond the immediate postpartum period. This patient was initially seen by one of us (R. R. M.) in consultation a t St. J u d e Hospital, Fullerton, Calif. We wish to acknowledge the assistance of Drs. James W . Clopton, Paul J . Orvando, Herbert Benson, and Robert O. Bauer, and Laurel Gee, R.N., i n their management of this patient. REFERENCES

1. Arey, L. B . : Developmental Anatomy, Philadelphia, 1954, W. B . Saunders Company, p. 241. 2. Beneke, R.: Ueber Bauchlunge und H e r n i a diaphragmatica spuria, Verhandl. deutsch. path. Gesellseh. 9 : 202-211, 1905. 3. Devenis, A. M., and Otis, R. D . : Tracheal Atresia Associated With Tracheoesophageal Fistula, J . THORACIC SURG. 3 4 : 405-408, 1957.

4. Fluss, Z., and Poppen, K. J . : Embryogenesis of Tracheoesophageal Fistula and Esophageal Atresia. A Hypothesis Based on Associated "Vascular Anomalies, A. M. A. Arch. Path. 5 2 : 168-181, 1951. 5. Fritz, E . : Eine seltene Missbildung der oberen Luftwege. (Teilweiser Mangel der Luftrbhre, Verschluss des Kehlkopfes und Osophagotrachealfistel.), Arch. path. Anat. 289: 264-269, 1933. 6. Gruenwald, P . : Case of Atresia of t h e Esophagus With Tracheoesophageal Fistula in a 9 mm. Human Embryo and I t s Embryological Explanation, Anat. Ree. 7 8 : 293, 1940. 7. Hempel, K. J . : Beitrag zur kongenitalen Atresie des Larynx und Aplasie der Trachea, Zentralbl. allg. P a t h . 9 5 : 226-237, 1956. 8. Keith, A., and Spieer, J . E . : Three Cases of Malformation of Tracheo-esophageal Septum, J . Anat. & Physiol. 4 1 : 52-55, 1906. 9. Kessel, I., and Smith, J . N . : Congenital Absence of the Trachea, Thorax 8: 266-268, 1953. 10. Milles, G., and Dorsey, D. B . : lntrauterine Respiration-Like Movements in Relation to Development of the Fetal Vascular System, Am. J . P a t h . 2 6 : 411, 1950. 11. Morison, J . E . : Congenital Malformations in One of Monozygotic Twins, Arch. Dis. Childhood 2 4 : 214, 1949. 12. Payne, W. A . : Congenital Absence of the Trachea, Brooklyn M. J . 1 4 : 568, 1900. 13. Schneider, P . : Die Missbildungen der Atmungsorgane, in Schwalbe, E . : Morphologie der Missbildungen des Menschen und der Tiere 3/2, Jena, 1907, Gustav Fischer, p. 763. 14. Walcher, K . : Angeborener Mangel der Trachea, Ztschr. gerichtl. Med. 12: 292, 1928. 15. Ware, G. W., and Cross, L. L . : Congenital Tracheo-esophageal Fistula Without Atresia of the Esophagus, Pediatrics 14: 254-258, 1954.