Case presentation

A male neonate was born preterm at 31 3/7 weeks of gestation via spontaneous vaginal delivery complicated by PPROM and placental abruption. Fetal ultrasound at 20 weeks was remarkable for normal amniotic fluid (Figure 1), a small stomach (Figure 2), bilateral cerebral ventriculomegaly with absent cavum septum pellucidum (Figure 3), prompting a fetal MRI at 22 weeks. While limited due to fetal movement during imaging, MRI confirmed bilateral cerebral ventriculomegaly and a small stomach with normal amniotic fluid (Figure 4). After a few weeks of missed appointments, the mother was admitted at 28 weeks with PPROM where she received prophylactic antibiotics and a full course of antenatal steroids in anticipation of preterm delivery. 18 days later at 31 3/7 weeks of gestation, complicated by severe vaginal bleeding, she delivered a neonate who presented with cyanosis, pallor, profound hypotonia, and absence of cry with no spontaneous respiratory effort. Immediate warming, drying, stimulation, and suctioning was done. The heart rate remained below 100 bpm with low oxygen saturations. No spontaneous activity noted. PPV was initiated immediately due to absent respiratory effort and bradycardia. There was only a brief improvement in saturations and heart rate, so the baby was presumed intubated at 2 min of life with some improvement in heart rate and saturations on 100 % oxygen at 5 min. Placental abruption was reported at this time. The patient continued to have desaturations and heart rate below 60 bpm requiring chest compressions. An emergency umbilical venous line (UVL) was placed with multiple rounds of epinephrine and normal saline bolus given for possible hypovolemia secondary to placental abruption with no response. Multiple reintubation attempts failed, as the ETT could not be advanced beyond the normal appearing vocal cords. The LMA attempt was also unsuccessful. During PPV with bag and mask, air was seen puffing in the neck while the chest exhibited no movement raising suspicion of severe upper airway obstruction. An attempt to pass an orogastric tube also failed. The baby’s heart rate remained persistently less than 100 bpm with low saturations prompting transfer to the NICU for emergency ENT evaluation and tracheostomy. Apgar scores were 1, 2, 2 at 1, 5 and 10 min of life respectively. Physical exam of the baby revealed a floppy baby, with no dysmorphic features and a two-vessel cord. X-ray revealed complete opacification of lungs and abdomen with a dilated upper esophagus and a small chest (Figure 5). An emergency bedside tracheostomy was performed by the ENT team. Airway management was taken over by ENT team and anesthesiologists. Attempts on intubation were made with different sizes of ETT. Video laryngoscopy guided intubation was eventually performed, demonstrating the tip of ETT barely passing through the vocal cords and effective ventilation could not be achieved. A rigid bronchoscopy was then performed, direct visualization beyond the vocal cords revealed a blind end suggesting possible laryngeal atresia. Emergency tracheostomy was performed at 51 min of life. Copious serous fluid was immediately suctioned from the trachea. Minimal breath sounds were noted with PPV via tracheostomy with no chest rise. Continued efforts were unsuccessful in ventilating the lungs. Despite exhaustive resuscitative measures, the neonate could not be ventilated and was pronounced dead within 2 h of life. The parents consented to an autopsy excluding the brain.

Figure 1:: Ultrasound showing normal amniotic fluid.

Figure 2:: Ultrasound showing small stomach.

Figure 3:: Ultrasound showing cerebral ventriculomegaly.

Figure 4:: Fetal MRI showing cerebral ventriculomegaly, small stomach, normal amniotic fluid volume.

Figure 5:: X-ray showing complete opacification of lungs and abdomen, small chest and dilated esophagus.

Autopsy findings

Autopsy revealed a 2.11 kg male neonate with congenital laryngeal/tracheal atresia at the level of the cricoid cartilage, pulmonary hypoplasia, and a two-vessel cord. The proximal portion of the esophagus appeared to end in a blind pouch (Figure 6). Distally, the esophagus appeared to rearise from the trachea and was patent to the stomach consistent with Type C TEF. The stomach appeared small but normally located in the left upper quadrant.

Figure 6:: Sagittal autopsy section demonstrating proximal esophageal atresia with a blind pouch with laryngeal/tracheal atresia at the level of cricoid cartilage.