Resolution of obstructive sleep apnea syndrome after adenoidectomy in congenital central hypoventilation syndrome

Abstract

We report on a 2½‐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 reevalution 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°. 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°. During ventilation, neck flexion of 20° was tolerated, but a 40° 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. Pediatr Pulmonol. 1999;27:341–346. © 1999 Wiley‐Liss, Inc.

Airway obstruction in congenital central hypoventilation syndrome

“…Previous reports describe obstructive apnoeas in children with CCHS and need for additional ventilation with continuous positive airway pressure in approximately 50% of children with CCHS in the first year of life and during respiratory infections to overcome symptoms of airway obstruction 10 11. A case report of resolution of obstructive sleep apnoea syndrome (OSAS) after adenoidectomy in a child with CCHS was previously reported 12…”

Obstructive Apneas in a Mouse Model of Congenital Central Hypoventilation Syndrome

“…Central apneas were commonly reported in CCHS patients and they were assigned to failure of central respiratory drive from the brainstem respiratory centers (7,8). Obstructive apneas were occasionally reported in case or small-group studies (9)(10)(11)(12)(13)(14)(15)(16)(17)(18) and were considered to require management in 50% of patients under one year (19). However, with rare exceptions (20), the studies of apneas in CCHS were conducted before the discovery of the disease-causing gene (2,4) and possibly included heterogeneous patient groups.…”