We report on a 2 1/2-year-old boy who is currently ventilated at home by
positive pressure ventilation through a nasal mask during the night because of
congenital central hypoventilation syndrome (CCHS). Up to age 2 he had developed normally. A reevaluation was performed because of symptoms suggestive of
obstructive sleep apnea syndrome (OSAS), including
snoring, nocturnal sweating, frequent nighttime awakenings, speech impairment, daytime
fatigue, and
failure to thrive. A sleep study indicated obstructive
apnea episodes lasting up to 40 s and arterial desaturations below 50% during spontaneous sleep. During
mechanical ventilation snoring persisted, and capillary PCO2 rose to 60 mm Hg. Partial upper
airway obstruction, leaking around the mask, and arousal movements developed on passive flexion of the neck to 20 degrees. After
adenoidectomy, symptoms of OSAS resolved. There were no more obstructive
apneas during spontaneous sleep, but obstructive
apneas could be provoked by neck flexion to 20 degrees. During ventilation, neck flexion of 20 degrees was tolerated, but a 40 degrees flexion led to partial obstruction. In CCHS patients, the problem of upper
airway obstruction is rarely noted because most patients are ventilated through a permanent
tracheostomy. Today,
noninvasive ventilation strategies are becoming more common. Reduced activity of upper airway muscles and impaired reflex mechanisms could lead to upper
airway obstruction during face mask
positive pressure ventilation in children with CCHS. Enlarged adenoids worsened this problem in our patient, leading to insufficient ventilation and OSAS.
Adenoidectomy resolved symptoms of OSAS and enabled successful nasal mask ventilation. Close follow-up of the patient avoided
hypoxia and sequelae from OSAS such as
pulmonary hypertension.