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.