A previously healthy 15-month-old girl is brought to the emergency department by her parents due to an episode of unresponsiveness. The patient was playing with her toys and, as the father removed them to prepare for bedtime, she began crying incessantly. There was a long pause in crying, during which the patient made no noise and stopped breathing until she turned blue, became limp, and was unresponsive for a few seconds. After this episode, she was alert and acted like her usual self. The patient takes no medications, and her vaccinations are up to date. Family history is unremarkable. She is at the 40th percentile for weight, height, and head circumference. Vital signs and physical examination are unremarkable. This patient's most likely diagnosis is associated with which of the following?
Breath-holding spells | |
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LOC = loss of consciousness. | |
A breath-holding spell (BHS) is an episode of apnea and loss of consciousness (LOC) precipitated by frustration, anger, fear, or pain. These spells are usually benign, with onset in children age 6 months to 2 years. BHS, which is either cyanotic or pallid, may represent a variant of vasovagal syncope due to autonomic dysfunction.
A cyanotic BHS, as seen in this patient, is the most common subtype and classically begins with crying and breath-holding in forced expiration; this is followed by apnea, cyanosis, limpness, and LOC. The event is brief with rapid return to baseline. In contrast, a pallid BHS is not associated with crying; the child initially appears pale and diaphoretic (instead of cyanotic) after a minor injury and may be confused and sleepy for a few minutes afterward.
The diagnosis is clinical, and evaluation includes screening for iron deficiency anemia (eg, complete blood count), which can be associated with BHS. In the absence of iron deficiency, no treatment is required, and parents should be reassured that although episodes may recur, they usually resolve by age 5. Children typically develop normally with no long-term consequences.
(Choice A) Patients with frequent (ie, multiples times a day) or prolonged (ie, >1 min) BHS or a family history of cardiac disease, syncope, or sudden death should undergo an ECG to evaluate for arrhythmias (eg, prolonged QT syndrome). BHS with classic features, as in this patient, is not associated with underlying arrhythmias.
(Choice B) BHS can be differentiated from epilepsy by a history of provocation (eg, crying) preceding LOC. In addition, this child has no abnormal movements or postictal period typically seen with a seizure.
(Choice D) Orthostatic hypotension due to volume depletion is a common cause of syncope with postural change in older children and adults. This patient's cyanosis, lack of positional change, and age make this diagnosis unlikely.
(Choice E) Tetralogy of Fallot can present with cyanotic episodes (ie, tet spells) after crying. However, rapid and deep breathing, not breath-holding, occurs during a tet spell, and a harsh systolic ejection murmur due to right ventricular outflow tract obstruction would be expected.
Educational objective:
Breath-holding spells are characterized by brief apnea and color change (ie, cyanosis or pallor) associated with an emotional trigger and followed by loss of consciousness. Parents should be reassured that these spells are typically benign with no long-term consequences.