A 1-month-old boy is brought to clinic by his mother due to concerns about his breathing. The mother states that over the past week she has noticed several episodes in which "he just stops breathing and then takes a lot of quick breaths." She adds, "He does it many times within a minute and then seems to breathe normally again. It really scares me." The infant has had no cyanosis, coughing, choking, fevers, or abnormal eye or limb movements. He is exclusively breastfed and is given vitamin D daily. The infant was born at 36 weeks gestation via normal spontaneous vaginal delivery after preterm premature rupture of membranes. He spent a week in the neonatal intensive care unit for temperature instability and feeding difficulties, and was discharged with no remaining medical issues. Family history is notable for a maternal cousin with epilepsy. Temperature is 36.7 C (98 F), blood pressure is 80/50 mm Hg, pulse is 132/min, and respirations are 44/min. Pulse oximetry is 99% on room air. The patient is tracking along the 30th percentiles for weight, length, and head circumference. Physical examination shows a well-nourished infant sleeping in his mother's arms. The heart has a regular rate and rhythm without murmurs, and the lungs are clear to auscultation without apnea, tachypnea, or increased work of breathing. He has appropriate tone and intact suck, grasp, and Moro reflexes. Plantar reflexes show upgoing toes bilaterally. Which of the following is the most likely diagnosis in this patient?

Question

A 1-month-old boy is brought to clinic by his mother due to concerns about his breathing.  The mother states that over the past week she has noticed several episodes in which "he just stops breathing and then takes a lot of quick breaths."  She adds, "He does it many times within a minute and then seems to breathe normally again.  It really scares me."  The infant has had no cyanosis, coughing, choking, fevers, or abnormal eye or limb movements.  He is exclusively breastfed and is given vitamin D daily.  The infant was born at 36 weeks gestation via normal spontaneous vaginal delivery after preterm premature rupture of membranes.  He spent a week in the neonatal intensive care unit for temperature instability and feeding difficulties, and was discharged with no remaining medical issues.  Family history is notable for a maternal cousin with epilepsy.  Temperature is 36.7 C (98 F), blood pressure is 80/50 mm Hg, pulse is 132/min, and respirations are 44/min.  Pulse oximetry is 99% on room air.  The patient is tracking along the 30th percentiles for weight, length, and head circumference.  Physical examination shows a well-nourished infant sleeping in his mother's arms.  The heart has a regular rate and rhythm without murmurs, and the lungs are clear to auscultation without apnea, tachypnea, or increased work of breathing.  He has appropriate tone and intact suck, grasp, and Moro reflexes.  Plantar reflexes show upgoing toes bilaterally.  Which of the following is the most likely diagnosis in this patient?

Quizplus · Accepted Answer

Explanation: Periodic breathing is a physiologic breathing pattern characterized by pauses of 5-10 seconds in breathing followed by rapid, shallow breaths. Without stimulation or intervention, a regular rhythm of breathing resumes after several cycles of periodic breathing, as in this patient. Periodic breathing This benign breathing pattern is thought to be secondary to recurrent central apnea due to immaturity of the nervous system in infants up to age 6 months. There is no associated cyanosis, change in tone, or abnormal limb/eye movements. In addition, signs of respiratory distress, such as retractions, nasal flaring, and persistent tachypnea, are not present in infants with periodic breathing. The irregular breathing pattern and brief pauses in breathing may cause alarm in caregivers; reassurance is indicated. (Choice A) Apnea of prematurity is characterized by true apnea and pauses in breathing lasting ≥20 seconds; it typically resolves by a corrected gestational age of 37 weeks (ie, at 1 week of life for a 36-week gestation infant). This infant's pauses in breathing are brief (occurring several times per minute), and his age makes apnea of prematurity unlikely. (Choice C) Seizures are often associated with alterations of consciousness, abnormal limb or eye movements, or cyanosis, none of which are present in this patient. (Choice D) Supraventricular tachycardia can present with episodes of tachycardia and diaphoresis; prolonged tachycardia often presents with symptoms of heart failure (eg, cough, cyanosis, poor feeding). This infant has a breathing pattern consistent with periodic breathing and is otherwise asymptomatic. (Choice E) Tetralogy of Fallot often presents with "tet" spells, episodes of severe cyanosis due to right ventricular outflow obstruction, triggered by agitation. Patients also typically have a systolic ejection murmur. This patient has no murmur or cyanosis. Educational objective: Periodic breathing is a physiologic pattern of breathing in young infants characterized by episodes of alternating pauses (5-10 seconds) in breathing and rapid breathing. These benign episodes can be frightening for caregivers, and anticipatory guidance and reassurance are indicated. References: Apnea, Infant. (http://www.ncbi.nlm.nih.gov/pubmed/28722998) Developmental changes in sleep and breathing across infancy and childhood. (http://www.ncbi.nlm.nih.gov/pubmed/26364005)

A 1-Month-Old Boy Is Brought to Clinic by His Mother