Paeds Cases · respiratory-sleep-and-airway
Central sleep apnoea and hypoventilation syndromes — structured clinical encounter
Structured encounter testing the approach to a term neonate who breathes adequately while awake but hypoventilates and desaturates during sleep with a structurally normal heart and clear lungs and cannot wean from support: the recognition of a central control-of-breathing disorder, the ventilate-not-oxygenate principle, PHOX2B confirmation of congenital central hypoventilation syndrome, the ladder of lifelong home ventilation, the multisystem surveillance, and the conversation with the family about a technology-dependent future.
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Target exams
Station 1 — recognition
The neonatal team asks why this baby cannot wean when his heart and lungs are normal. I explain that a baby who breathes adequately awake but hypoventilates in sleep, with a normal heart and lungs, has a central disorder of the control of breathing, because sleep withdraws the wakefulness drive and exposes a deficient chemoreceptor drive. The constipation since birth raises associated Hirschsprung disease within the autonomic spectrum. [1] [3]
Station 2 — stabilisation
Asked how I would keep him safe now, I state the governing principle: ventilate, do not merely oxygenate. I would provide assisted ventilation to clear carbon dioxide and monitor carbon dioxide directly with capnography or transcutaneous monitoring, because oxygen alone can normalise the saturation while carbon dioxide rises to narcosis. I would attach cardiorespiratory monitoring for the sinus pauses of autonomic dysfunction and avoid respiratory depressants. [1] [13]
Station 3 — confirmation
To confirm, I would send PHOX2B genetic testing, which establishes congenital central hypoventilation syndrome and predicts severity, the risk of Hirschsprung disease and the tumour risk from the mutation type, and I would arrange attended polysomnography with carbon dioxide to characterise the hypoventilation. I would add an echocardiogram for pulmonary hypertension and a Holter for autonomic dysrhythmia. [1] [15]
Station 4 — definitive plan
Asked about the long term, I outline lifelong assisted ventilation matched to dependence, from mask non-invasive ventilation through tracheostomy and home ventilator to diaphragm pacing in selected children, wrapped in a home ventilation programme with trained carers, back-up equipment and an emergency plan. Surveillance covers cardiac, autonomic, bowel and neurodevelopmental domains, and anaesthesia is planned carefully. [4] [8]
Station 5 — the family conversation
Finally I counsel the family honestly that this is a lifelong, technology-dependent condition, but that with organised home ventilation and surveillance many children grow, learn and reach adulthood, and that the single rule that keeps their son safe is to ventilate rather than merely oxygenate and to measure carbon dioxide rather than trust the oxygen number. [4] [5]
References
- [1]Weese-Mayer DE; Berry-Kravis EM; Ceccherini I; et al An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med, 2010.PMID 20208042
- [2]Ceccherini I; Kurek KC; Weese-Mayer DE Developmental disorders affecting the respiratory system: CCHS and ROHHAD. Handb Clin Neurol, 2022.PMID 36031316
- [3]Kasi AS; Perez IA Congenital Central Hypoventilation Syndrome and Disorders of Control of Ventilation. Clin Chest Med, 2024.PMID 39069329
- [4]Fain ME; Westbrook AL; Kasi AS Congenital Central Hypoventilation Syndrome: Diagnosis and Long-Term Ventilatory Outcomes. Clin Med Insights Pediatr, 2023.PMID 37256017
- [5]Kasi AS; Li H; Harford KL; et al Congenital Central Hypoventilation Syndrome: Optimizing Care with a Multidisciplinary Approach. J Multidiscip Healthc, 2022.PMID 35360554
- [6]Harvengt J; Gernay C; Mastouri M; et al ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis. J Clin Endocrinol Metab, 2020.PMID 32407531
- [7]Marpuri I; Ra E; Naguib MN; et al Weight management in youth with rapid-onset obesity with hypothalamic dysregulation, hypoventilation, autonomic dysregulation, and neural crest tumor (ROHHAD-NET): literature search and case report. J Pediatr Endocrinol Metab, 2022.PMID 34954931
- [8]Tsolakis N; Sindelar R; Markström A; et al Applying diaphragm pacing in previously tracheostomised children with congenital central hypoventilation syndrome is a safe tool. Acta Paediatr, 2022.PMID 35266201
- [9]Dozor AJ; Vincent R Assessment of Phrenic Nerve Pacers in a Patient With Congenital Central Hypoventilation Syndrome. Pediatr Pulmonol, 2025.PMID 39688338
- [10]Berry RB; Ryals S; Wagner MH Use of Chest Wall EMG to Classify Hypopneas as Obstructive or Central. J Clin Sleep Med, 2018.PMID 29734977
- [11]Okai BK; Jaikumar V; Francois HB; et al Posterior fossa decompression in patients with Chiari malformation type 1: effect on sleep apnea and follow-up outcomes. Childs Nerv Syst, 2024.PMID 39365303
- [12]Marques KA; Bruschettini M; Roehr CC; et al Methylxanthine for the prevention and treatment of apnea in preterm infants. Cochrane Database Syst Rev, 2023.PMID 37905735
- [13]Basu SM; Chung FF; AbdelHakim SF; et al Anesthetic Considerations for Patients With Congenital Central Hypoventilation Syndrome: A Systematic Review of the Literature. Anesth Analg, 2017.PMID 27918326
- [14]Puri S; Yaddanapudi S; Menon P Peri-operative management of a child with ROHHAD-NET syndrome undergoing neural crest tumour excision. Anaesth Rep, 2022.PMID 35756834
- [15]Slattery SM; Wilkinson J; Mittal A; et al Computer-aided diagnostic screen for Congenital Central Hypoventilation Syndrome with facial phenotype. Pediatr Res, 2024.PMID 38238566