AET-26
Tracheal Agenesis: a rare but important congenital anomaly
Olambiwonnu O, Vishneski S, Kenney M, Njoku D
Johns Hopkins University School of Medicine, Baltimore, MD, United states
Introduction: Tracheal agenesis is a rare, potentially lethal congenital malformation in which the trachea is absent or underdeveloped. Initially described in 1900, the prevalence of tracheal agenesis is less than 1:50,000 with a male to female ratio of 2:1. There are three subtypes: Type I, characterized by agenesis of the proximal trachea, normal short distal trachea, normal bronchi, and a distal tracheoesophageal fistula; Type II, defined by absence of the trachea and normal bifurcating bronchi with or without a broncho-esophageal communication; Type III, defined by absence of the trachea with the main bronchi arising independently from the esophagus. We report a case of a term newborn with Type I tracheal agenesis .
Case Report:
A full term Caucasian female was born to a healthy 31 year old G3P011 mother. An ultrasound in the first trimester showed an echogenic bowel that resolved by 21 weeks. The child was born via spontaneous vaginal delivery with thick meconium, apnea, poor tone, and pallor. The NICU initiated bulb suction with positive pressure ventilation. Apgar scores were 1 and 2 at one and five minutes. Because of minimal response to mask ventilation, intubation was attempted. The larynx was visualized but attempts at placing the endotracheal tube were unsuccessful. A laryngeal mask airway was placed with end-tidal CO2 detected. CPR was initiated and multiple doses of epinephrine were given along with dopamine and inhaled nitric oxide. The infant was transferred to our center with the diagnosis of difficult airway.
On arrival at the emergency room, the infant was assessed by the multidisciplinary difficult airway response team (DART) and found to be dusky, intermittently bradycardic, and hypoxic. A rapid decision was made for OR evaluation.
In the OR, with ongoing CPR, direct laryngoscopy by ENT revealed Grade 1 view of vocal cords with no airway below the cords. A rigid bronchoscope could not access the trachea. Because of declining infant condition, extra-corporeal membrane oxygenation (ECMO) was initiated. Ultrasound and CT after ECMO cannulation could not locate the trachea. Following a multidisciplinary discussion in the PICU, support was terminated because the infant would not likely benefit from additional surgical intervention. Postmortem exam revealed Type I Tracheal Agenesis, a bi-lobed right lung, narrowing of the left ureter at the bladder and a membrane covering a portion of the ascending colon.
Discussion: Tracheal agenesis is a rare diagnosis that should be considered in the delivery room. Approximately 90% of patients with tracheal agenesis also have cardiovascular, gastrointestinal, and genitourinary abnormalities. Severe respiratory distress immediately after birth, accompanied by cyanosis and a weak or absent cry, may help in the diagnosis, especially in the setting of difficult intubation. Temporary ventilation with an endotracheal tube placed in the esophagus may be helpful in the presence of a fistula. The success of tracheostomy depends on the length of the distal trachea. In most cases, long-term solutions for tracheal agenesis are limited and the outcome is almost always fatal.
References:
1. BMC Pediatrics (2017) 17:49
2. Brooklyn Med Journal (1900)14:56
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