A 2-hour-old boy is evaluated in the newborn nursery due to cyanosis. The boy was born at 38 weeks gestation via spontaneous vaginal delivery to a primigravida mother whose pregnancy and delivery were uncomplicated. When the mother attempted to breastfeed in the first hour of life, the patient latched and sucked well but began to appear blue around the lips and face. He began crying and turned pink when he was removed from the breast. He has voided and passed meconium. The patient's weight is appropriate for gestational age. Heart rate and 4-extremity blood pressures are normal. Examination shows a nondysmorphic neonate with mild cyanosis at rest. Auscultation shows clear lungs and no murmurs. There are no intercostal retractions or stridor. Peripheral pulses are strong and symmetric. Which of the following is the most likely diagnosis in this patient?

Question

A 2-hour-old boy is evaluated in the newborn nursery due to cyanosis.  The boy was born at 38 weeks gestation via spontaneous vaginal delivery to a primigravida mother whose pregnancy and delivery were uncomplicated.  When the mother attempted to breastfeed in the first hour of life, the patient latched and sucked well but began to appear blue around the lips and face.  He began crying and turned pink when he was removed from the breast.  He has voided and passed meconium.  The patient's weight is appropriate for gestational age.  Heart rate and 4-extremity blood pressures are normal.  Examination shows a nondysmorphic neonate with mild cyanosis at rest.  Auscultation shows clear lungs and no murmurs.  There are no intercostal retractions or stridor.  Peripheral pulses are strong and symmetric.  Which of the following is the most likely diagnosis in this patient?

Quizplus · Accepted Answer

11ec25c8_d650_f7fa_bc81_d3975e2490fc_MD0003_00 This newborn has cyanosis with feeding (ie, mouth occlusion) that is relieved by crying, findings suggestive of choanal atresia. This congenital malformation is caused by failure of the posterior nasal passage to canalize completely, leaving a bony or membranous obstruction. It may occur in isolation or as part of the CHARGE syndrome (coloboma [missing eye tissue], heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities). Obstruction may be unilateral or bilateral. Unilateral choanal atresia is mild and often undiagnosed in early childhood. However, bilateral choanal atresia presents with cyanosis in the newborn period. Because neonates are obligate nasal breathers, the complete obstruction of bilateral choanal atresia causes hypoxia and cyanosis. This resultant hypercapnia triggers neonates to cry and temporarily relieve the obstruction. Choanal atresia is usually recognized when the mouth is fully occluded (eg, feeding), causing overt cyanosis. Failure to pass a catheter through the nares into the oropharynx is suggestive of choanal atresia. The diagnosis is confirmed by CT scan or by direct visualization of the obstruction via endoscopy. The first step in management consists of placing an oral airway and orogastric tube feeding. Definitive treatment is surgical repair. Failure to pass a catheter (Choice B) Laryngomalacia classically presents with inspiratory stridor (not seen in this patient) that is exacerbated by exertion or distress. Cyanosis is uncommon. (Choice C) Tetralogy of Fallot (TOF) with mild obstruction of pulmonary blood flow causes cyanosis with agitation ("tet" spells) due to right ventricular outflow obstruction. In addition, cardiac murmurs (eg, holosystolic murmur of ventricular septal defect) would be expected. In contrast, the cyanosis in this patient with no murmur is worsened by feeding and relieved with crying, making TOF unlikely. (Choice D) Tracheoesophageal fistula with esophageal atresia can cause cyanosis and feeding problems immediately after birth due to aspiration. These patients typically have coughing and choking with feeds and respiratory distress, none of which are seen here. (Choice E) Transient tachypnea of the newborn is characterized by respiratory distress immediately after birth. Additional symptoms include nasal flaring, subcostal/intercostal retractions, and expiratory grunting. This patient has isolated cyanosis with no respiratory distress. (Choice F) Transposition of the great arteries causes cyanosis due to deoxygenated venous blood being pumped into the aorta rather than the pulmonary artery. Cyanosis is persistent and does not worsen with feeds or improve with crying. Transposition of the great arteries Educational objective: Choanal atresia should be suspected in an otherwise well-appearing newborn with cyanosis worsened by feeding and relieved by crying. Failure to pass a catheter through the nares into the oropharynx is suggestive of the diagnosis. References: Choanal atresia and other neonatal nasal anomalies. (http://www.ncbi.nlm.nih.gov/pubmed/30396416) Nasal obstruction in newborns. (http://www.ncbi.nlm.nih.gov/pubmed/23905827)

A 2-Hour-Old Boy Is Evaluated in the Newborn Nursery Due