Paeds Vivas · respiratory-sleep-and-airway
Central sleep apnoea and hypoventilation syndromes — branching viva
Branching viva from a neonate who hypoventilates in sleep with normal heart and lungs, through the recognition of a central control-of-breathing disorder, the ventilate-not-oxygenate rule, PHOX2B confirmation of congenital central hypoventilation syndrome and the ladder of home ventilation, to a school-aged child with rapid-onset obesity and hypoventilation whose ROHHAD diagnosis and tumour search are tested.
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Target exams
Opening — framing the problem
The examiner begins: a term baby breathes normally while awake but becomes shallow, cyanosed and hypercapnic the moment he sleeps, and cannot be weaned despite a normal heart and clear lungs. Talk me through your reasoning. [1] [3]
I would frame this as a disorder of the control of breathing until proven otherwise, because the breathing is adequate awake and fails in sleep, when the wakefulness drive is withdrawn and only the deficient chemoreceptor drive remains. The normal heart and lungs argue against a cardiac or pulmonary cause, and the failure to wean with a well-looking awake baby is the classic mismatch of central hypoventilation. [1] [3]
You have read the opening of this viva. The complete unit — every section and its primary-source references — is part of the Paediatrics Fellowship fellowship atlas.
References15Show ledgerHide ledger
- [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