Case report
A 17-day-old term female infant was transferred to our neonatal intensive care unit due to atelectasis of the entire right lung and severe congenital malformations including esophageal right bronchus, complex cardiac anomalies, and agenesis of the right kidney. The parents are healthy, non-consanguineous, and of Arabic origin. There is no family history of congenital malformations. Maternal history was negative for the use of medications, drug abuse, smoking, and alcohol consumption. Pregnancy follow up was uneventful except for an atrioventricular septal defect by fetal echocardiography. The infant was delivered at 38 weeks gestation. APGAR scores were 9 and 10 at 1 and 5 minutes, respectively. The birth weight (2,715 g) was appropriate for gestational age (15th percentile), as was the head circumference (33.5 cm). On physical examination, some dysmorphic features were observed including frontal bossing, eyelash trichomegaly, prominent eyes, widened cornea (11 mm), pinched nose, short neck, right cervical branchial tag, low set nipples, and vestibular anus.
On auscultation, there was diminished right lung sounds, and a 3/6 systolic murmur.
Chest radiography demonstrated right lung atelectasis, left lung hyperinflation, and hemivertebra. Echocardiography revealed dextroposition of the heart, double outlet right ventricle, large inlet ventricular septal defect, and small secundum atrial septal defect. Routine laboratory tests were normal, as was the chromosomal microarray analysis. Head ultrasound was normal. Renal sonography demonstrated right renal agenesis. Computed tomography confirmed complete right lung atelectasis, with connection of the right bronchus to the distal esophagus; and a right mediastinal shift and hyperinflation of the left lung (Figure 1).
For better delineation of the bronchial tree and airway connections, an esophagogram was performed. This demonstrated right bronchus, 3mm wide, proximally connected to the esophagus. The distal bronchial tree appeared normal. Catheterization and angiography demonstrated systemic right ventricle pressure. The arterial branching was close to the origin of the left bronchus, suggesting a normal lung hilum (Figure 2). Fiberoptic bronchoscopy and esophagoscopy demonstrated absence of carina, with disconnection between the trachea and the right main bronchus. The right main bronchus was connected to the distal esophagus. Due to severe respiratory distress, the patient was mechanically ventilated during her hospitalization.
At age 1 month, the infant underwent a right posterolateral thoracotomy and right pneumonectomy. The right main bronchus was found to originate entirely from the distal esophagus. Absence of Tracheoesophageal fistula was confirmed. The bronchus was detached from the esophagus.
At age 2 months, pulmonary banding was performed due to severe pulmonary congestion. Since discharge the infant has been hospitalized several times due to recurrent aspiration pneumonia and urinary tract infections. Because of her poor weight gain, a percutaneous endoscopic gastrostomy was inserted at age 10 months.
At age 1 year, cardiac catheterization was done and demonstrated equal pressure in both ventricles, with mildly elevated end diastolic pressure at the left pulmonary artery and normal pulsatile pressure tracing. There was no flow to the right pulmonary artery. At that time, a Fontan palliation was discussed but was considered infeasible in light of the single lung anatomy. At age 2 years and 3 months, she successfully underwent a Glenn procedure; sildenafil was started due to pulmonary hypertension.
At the time of this publication, the patient is 3 years old and is still dependent on oxygen and treated with sildenafil, diuretics, and aspirin; as well as prophylaxis treatment for urinary tract infection.