Unexpected tracheal agenesis with prenatal diagnosis of aortic coarctation, lung hyperecogenicity and polyhydramnios: a case report

Abstract

Background: Tracheal agenesis (TA) is a rare disorder usually diagnosed prenatally when a congenital high airway obstruction syndrome (CHAOS) is identified. We present a case of unexpected TA in a neonate without prenatal diagnosis of airway obstruction, with a difficult management at birth. Moreover, we discuss about differential diagnosis, classification and treatment issues. Case presentation: A 2280 g female neonate was born at 35 week gestational age (GA) with prenatal diagnosis of aortic coarctation, polyhydramnios and diffuse hyperechogenicity of the right lung. At birth, the neonate had no audible cry, no air entry to the lungs, and hypotonia. Tracheal intubation was unsuccessful, and no visualization of the trachea was obtained when tracheostomy was attempted. Post-mortem examination showed tracheal agenesis associated with tracheoesophageal fistula and revealed no cardiologic malformations. Aortic coarctation had been suspected prenatally because of the first portion of the descendent thoracic aorta being compressed by a fibrous band connecting the proximal and distal tracheal branches. CHAOS had not developed due to the tracheoesophageal fistula (TOF). Conclusions: TA is not always diagnosed in the fetus and it may present unexpectedly making the neonate's management at birth critical. An effective rescue temporary oxygenation may be obtained with mask ventilation or oesophageal intubation in those cases of TA associated with a TOF. We suggest to consider a fetal magnetic resonance imaging (MRI) when the association polyhydramnios/lung hyperechogenicity occurs, even in the absence of CHAOS or other malformations. Once a diagnosis is provided, the mother should be transferred to selected centres where an ex-utero intrapartum procedure (EXIT) can be attempted. Moreover, despite high mortality, different surgical management are described to improve survival.

Tracheal agenesis: the importance of teamwork in an uncommon pathology, challenging diagnosis, and high mortality—a case report

“…In most cases, the associated anomalies are cardiovascular, including septal defects, valvular defects, transposition of great arteries, or tetralogy of Fallot. Genitourinary and gastrointestinal anomalies and umbilical vessel alterations are also frequent in these patients ( 1 , 2 , 11 , 12 ). In addition, it can be associated with syndromes such as CHARGE association ( 13 ) (coloboma, heart anomaly, choanal atresia, retardation of growth, and genital and ear anomalies), VACTERL (vertebral defects, anal atresia, radial dysplasia, renal defects, and cardiovascular defects) ( 4 , 9 ), TACRD (tracheal agenesis/atresia, congenital heart disease, radial defects, and duodenal atresia), or FRASER (cryptophthalmia, syndactyly, laryngeal and tracheal anomalies, and urogenital malformations) ( 1 , 2 ).…”

Stumbled across a rare entity tracheal agenesis – A lesson learned

“…Long-term management is extremely challenging, various anastomosis and grafts (homologous/synthetic) have been tried, albeit the results are unsatisfactory. [ 4 5 ] The long-term survival of TA was deemed an effective surgical intervention. In the future, tissue engineering may lead to the probability of effective surgical repair and better survival.…”