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[Non-invasive mechanical ventilation in a child with central hypoventilation syndrome: one year follow-up]
Zhifei Xu1, Xinlei Jia1, Ping Bai1
1Department of Respiratory Diseases, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
Insights
Late-onset congenital central hypoventilation syndrome (CCHS) requires respiratory support, often mechanical ventilation. Non-invasive ventilation via nasal mask effectively managed a pediatric case, improving oxygen saturation and CO2 levels.
Area of Science:
- Pediatric Pulmonology
- Sleep Medicine
- Genetics
Background:
- Congenital central hypoventilation syndrome (CCHS) is a rare disorder affecting autonomic control of breathing.
- Late-onset CCHS presents unique diagnostic and management challenges, often mimicking other respiratory conditions.
Observation:
- A 9-year-old boy exhibited normal breathing when awake but developed hypoventilation, oxygen desaturation, and CO2 retention during sleep.
- Initial presentation complicated by pneumonia, respiratory and heart failure, and pulmonary hypertension required mechanical ventilation.
- Nocturnal polysomnography and transcutaneous CO2 monitoring confirmed central hypoventilation, with unremarkable brain MRI and genetic screening.
Findings:
- Bi-level positive airway pressure ventilation via nasal mask successfully improved oxygen saturation and reduced CO2 levels.
- One-year follow-up demonstrated resolution of pulmonary hypertension and normalized CO2 levels during both wakefulness and sleep.
- This case highlights the effectiveness of non-invasive ventilation in managing late-onset CCHS.
Implications:
- Early diagnosis and appropriate respiratory support are crucial for managing late-onset CCHS.
- Non-invasive ventilation offers a viable alternative to tracheotomy in select pediatric patients with CCHS.
- Further research into the genetic and clinical spectrum of late-onset CCHS is warranted.
Objective:
To investigate clinical features and therapeutic methods of late-onset central hypoventilation syndrome.
Method:
A nine-year old boy was trachea-intubated and mechanically ventilated because of pneumonia, respiratory and heart failure and pulmonary hypertension. It was found that hard to extubate the patient as he was breathing normally while awake but had shallow breathing, oxygen desaturation and CO2 retention when falling asleep. Nocturnal polysomnography together with transcutaneous CO2 supported the diagnosis of central hypoventilation. The final diagnosis was late-onset congenital central hypoventilation syndrome as the patient gained weight rapidly since 3 years of age and the brain magnetic resonance imaging (MRI) and genetic screening were unremarkable.
Result:
The patient was treated with bi-level positive air pressure ventilation via nasal mask which showed good oxygen saturation and CO2 dropped down. The follow up study done one year later showed normal brain MRI, relief of pulmonary hypertension and better CO2 level in both awaken and sleeping status.
Conclusion:
The late-onset congenital central hypoventilation syndrome in this case had onset of symptoms at 2 years of age, he had normal breathing while he was awake but had oxygen desaturation and CO2 retention during sleep, therefore, respiratory support is required in severe cases. Mechanical ventilation via tracheotomy and non-invasive ventilation via mask are the major choice.
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