Publication: Using non-invasive bi-level positive airway pressure ventilator via tracheostomy in children with congenital central hypoventilation syndrome: two case reports
Issued Date
2015
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eng
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Mahidol University
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BioMed Central
Bibliographic Citation
Journal of Medical Case Reports. Vol. 9, (2015), 149
Suggested Citation
Aroonwan Preutthipan, Teeradej Kuptanon, Harutai Kamalaporn, Anchalee Leejakpai, Malinee Nugboon, Duangrurdee Wattanasirichaigoon Using non-invasive bi-level positive airway pressure ventilator via tracheostomy in children with congenital central hypoventilation syndrome: two case reports. Journal of Medical Case Reports. Vol. 9, (2015), 149. doi:10.1186/s13256-015-0631-7 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/2709
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Title
Using non-invasive bi-level positive airway pressure ventilator via tracheostomy in children with congenital central hypoventilation syndrome: two case reports
Abstract
Introduction: Due to the economic downturn in Thailand, two baby girls with congenital central hypoventilation
syndrome had to wait for several months to obtain definite diagnosis and long-term mechanical ventilation. Genetic
investigation later revealed 20/25 polyalanine expansion of PHOX2B gene in both girls. In this report we highlight the
use of non-invasive bi-level positive airway pressure ventilators via tracheostomy, overnight end-tidal carbon dioxide
trend graphs and outcomes of the patients whose diagnosis and treatment were delayed.
Case presentation: Case 1: A Thai baby girl showed symptoms of apnea and cyanosis from birth and required
invasive mechanical ventilation via tracheostomy during sleep. At 5 months, she unfortunately was discharged
from the hospital without any ventilatory support due to financial problems. She subsequently developed cor
pulmonale, respiratory failure and generalized edema and was referred to us when she was 9-months old. An
overnight polysomnogram was consistent with a central hypoventilation disorder, in which the severity of oxygen
desaturation and hypercapnia was worsening during non-rapid eye movement compared to rapid eye movement
sleep. At 12 months she was allowed to go home with a conventional home ventilator. The ventilator was changed to
bi-level positive airway pressure when she was 4-years old. After she received adequate home ventilation, she thrived
with normal growth and development.
Case 2: A Thai baby girl developed apnea and cyanosis from the age of 5 weeks, requiring ventilatory support (on and
off) for 5 months. After being extubated, she had been put on supplemental oxygen via nasal cannula for 2 months.
She was then referred to us when she was 7-months old. An overnight end-tidal carbon dioxide trend graph revealed
marked hypercapnia without increase in respiratory rate. An overnight polysomnogram was consistent with a
central hypoventilation disorder. Since 9 months of age she has been on home bi-level positive airway pressure
via tracheostomy without any complications.
Genetic testing confirmed 20/25 polyalanine expansions of PHOX2B gene in both girls.
Conclusions: Bi-level positive airway pressure, originally designed as a non-invasive ventilator, was found to work
effectively and safely, and may be used as an invasive ventilator via tracheostomy in young children with congenital
central hypoventilation syndrome.