The Science Journal of the American Association for Respiratory Care

2008 OPEN FORUM Abstracts


Richard T. Ermak1, Lori S. Alturo1, Todd Burchard2, John Rendle1, Aaron Chidekel3, James Hertzog4

Introduction: Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic disorder characterized by state-dependent alveolar hypoventilation. Hypoventilation, more pronounced during quiet sleep than during REM sleep or wakefulness is characteristic of CCHS and requires respiratory support during sleep. CCHS usually presents in the neonatal period, but presentations later in childhood and even into adulthood are reported. The developmental progression of a child with CCHS presents continuous challenges to the care team to best meet the ventilatory needs of a child with CCHS during the different stages of life as will be outlined in the following case report.

Case Summary:
A 17-month African American male initially presented with respiratory distress due to right upper lobe pneumonia, which progressed to respiratory failure requiring mechanical ventilation. Extubation was eventually achieved but persistent state-dependent hypoventilation was documented by polysomnography and lead to the diagnosis of CCHS by genetic testing for phox2b gene expansions. To avoid invasive mechanical ventilation, trials of non-invasive ventilation were conducted concurrently with polysomnography. Initially, bi-level positive airway pressure (BiPAP) was employed and patient tolerance of this device was attempted. However, in addition to concerns about portability for daytime naps, poor tolerance of multiple BiPAP masks and pressures lead to a trial of negative pressure ventilation (NPV) and high flow nasal cannula therapy (HFT). Similar concerns about portability and access to devices in the homecare setting resulted in the performance of a tracheotomy for long term respiratory support. Diagnostic polysomnography was performed with each device to ensure adequacy of gas exchange during sleep. Family education and involvement in the clinical decision making regarding the pros and cons of each device was critical.

In conclusion, the unique challenges of providing safe, portable and effective respiratory support to a young child with CCHS requires multi-disciplinary and family-centered collaboration among multiple members of the care team including respiratory care practitioners, polysomnographers, nurses and physicians to ensure a safe and acceptable outcome for this unique group of patients.