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  • Title: Airway obstruction in congenital central hypoventilation syndrome.
    Author: Reverdin AK, Mosquera R, Colasurdo GN, Jon CK, Clements RM.
    Journal: BMJ Case Rep; 2014 May 19; 2014():. PubMed ID: 24842348.
    Abstract:
    Congenital central hypoventilation syndrome (CCHS) is the failure of the autonomic system to control adequate ventilation while asleep with preserved ventilatory response while awake. We report a case of a patient with CCHS who presented with intrathoracic and extrathoracic airway obstruction after tracheostomy tube decannulation and phrenic nerve pacer placement. Nocturnal polysomnography (NPSG) revealed hypoxia, hypercapnia and obstructive sleep apnoea, which required bilevel positive airway pressure titration. Airway endoscopy demonstrated tracheomalacia and paretic true vocal cords in the paramedian position during diaphragmatic pacing. Laryngeal electromyography demonstrated muscular electrical impulses that correlated with diaphragmatic pacer settings. Thus, we surmise that the patient's upper and lower airway obstruction was secondary to diaphragmatic pacer activity. Thorough airway evaluation, including NPSG and endoscopy, may help identify the side effects of diaphragmatic pacing, such as airway obstruction, in patients with CCHS.
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