What is the most likely diagnosis for a 2-hour-old newborn boy with cyanosis, particularly when feeding, and normal heart rate and blood pressures?

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Last updated: May 12, 2025 • View editorial policy

Differential Diagnosis for a 2-hour-old Boy with Cyanosis

The patient's presentation of cyanosis that occurs when feeding and resolves when crying suggests a condition related to breathing or cardiac function. Here's a categorized differential diagnosis:

  • Single most likely diagnosis + A. Choanal atresia: This condition is characterized by the blockage of the nasal passages, which can cause cyanosis in newborns when they attempt to breathe through their nose, especially during feeding. The fact that the patient turns pink when crying (and thus breathing through the mouth) supports this diagnosis.
  • Other Likely diagnoses + B. Laryngomalacia: Although less likely, laryngomalacia (a condition where the tissues of the larynx are soft and floppy) could cause respiratory distress and cyanosis, especially during feeding. However, it typically presents with stridor, which is not mentioned in the case.
  • Do Not Miss (ddxs that may not be likely, but would be deadly if missed.) + C. Tetralogy of Fallot: A congenital heart defect that can cause cyanosis due to decreased blood flow to the lungs. Although the patient's heart rate and blood pressures are normal, and there are no murmurs, this condition needs to be considered due to its severity. + F. Transposition of the great arteries: Another serious congenital heart defect where the two main arteries that carry blood out of the heart are reversed, leading to cyanosis. The absence of murmurs and normal peripheral pulses make this less likely, but it's crucial to rule out due to its potential severity.
  • Rare diagnoses + D. Tracheoesophageal fistula with esophageal atresia: This condition involves an abnormal connection between the esophagus and the trachea, which can cause respiratory distress and cyanosis during feeding. However, it typically presents with more severe symptoms, such as choking or coughing during feeding, and is less likely given the patient's ability to latch and suck well. + E. Transient tachypnea of the newborn: This condition is characterized by rapid breathing rate in newborns, often due to residual fluid in the lungs after birth. While it can cause mild respiratory distress, it is less likely to cause cyanosis, especially in the pattern described.

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