Using non-invasive bi-level positive airway pressure ventilator via tracheostomy in children with congenital central hypoventilation syndrome: two case reports.

Aroonwan Preutthipan,Anchalee Leejakpai,Teeradej Kuptanon,Duangrurdee Wattanasirichaigoon,Harutai Kamalaporn,Malinee Nugboon

doi:10.1186/s13256-015-0631-7

Aroonwan Preutthipan, Anchalee Leejakpai + Show 4 more

Open Access

https://doi.org/10.1186/s13256-015-0631-7

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Abstract

IntroductionDue 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 presentationCase 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.ConclusionsBi-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.

Highlights

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
Congenital central hypoventilation syndrome (CCHS) is a rare disorder most commonly found in young children [1], characterized by alveolar hypoventilation and autonomic dysregulation [1, 2]
In developing countries with limited resources it is much more difficult to send children with CCHS back home since all expense must be borne by the family themselves [8]

Summary

Conclusions

We reported the cases of two underprivileged girls diagnosed with CCHS. The girls’ mothers were trained to be home caregivers. We found that BPAP ventilators were safe to be used via tracheostomy as longterm home mechanical ventilators in young children with CCHS. Consent Written informed consents were obtained from the parents of both patients for publication of this case report and accompanying images. A copy of the written consents is available for review by the Editor-in-Chief of this journal. Competing interests The authors declare that they have no competing interests. Authors’ contributions AP was the primary physician, reviewed the patients’ records and wrote the manuscript. AL performed polysomnography and titration of ventilator settings. All authors read and approved the final manuscript

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