A neonate with marked prolonged mixed apneas and CHARGE syndrome: a case report

Upper airway abnormalities in the newborn are associated with obstructive breathing but not with mixed apneas. A tracheostomy is necessary to treat severe obstructive apneas but will not have an effect on the central part of the mixed apneas. As far as we know, this is the first case report describing disappearance of severe mixed apneas after tracheostomy in a 7-week-old infant.

We report a case of a white female neonate with anatomical upper airway abnormalities and severe mixed apneas with desaturations needing respiratory support. Polysomnography revealed striking mixed apneas, starting as a prolonged central apnea and merging into an obstructive apnea, and were not appropriate for her age. Additional examination revealed no explanation for the central component of the mixed apneas. Because of persistent, severe desaturations, she needed respiratory support with failure to wean. Finally, a tracheostomy was performed to treat the obstructive apneas, but unexpectedly the central apneas also resolved. Recently, additional genetic testing revealed that she has CHARGE syndrome (coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and development, genital and/or urinary abnormalities, and ear abnormalities and deafness).

Mixed apneas are not a common feature in the newborn or infant with upper airway abnormalities. However, treatment with tracheostomy in our patient (day 46 postpartum) with anatomical upper airway abnormalities resolved not only obstructive apneas but also, unexpectedly, severe mixed apneas. Surprisingly, a posttracheostomy polygraph showed only short central apneas appropriate for age.