Early-onset Congenital Central Hypoventilation Syndrome – a case report of atypical presentation

Authors

  • Ariana Gonçalves Marques Department of Pediatrics, Unidade Local de Saúde Região de Leiria; Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra https://orcid.org/0009-0002-4619-9038
  • Mariana Costa Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra https://orcid.org/0000-0003-4501-0192
  • Chantal Cortesão Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra; Department of Pulmonology, Hospital Universitário de Coimbra, Unidade Local de Saúde de Coimbra https://orcid.org/0000-0003-1849-6094
  • Daniela Catalão Department of Pediatrics, Unidade Local de Saúde Região de Leiria https://orcid.org/0000-0001-8253-373X
  • Cristina Pereira Child Developmental Centre, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra https://orcid.org/0009-0000-5895-0242
  • Lina Ramos Department of Genetics, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra
  • Núria Madureira Sleep and Ventilation Laboratory, Department of Paediatric Medicine, Unidade Local de Saúde de Coimbra

DOI:

https://doi.org/10.25753/BirthGrowthMJ.v35.i2.43509

Keywords:

atypical manifestation, Congenital Central Hypoventilation Syndrome, PHOX2B gene, NPARM

Abstract

Introduction: Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic disorder characterised by central hypoventilation, mainly during sleep, and abnormal ventilatory responses to hypercapnia and hypoxia. It typically presents soon after birth with severe hypercapnic respiratory failure requiring ventilatory support, but may also manifest later following a respiratory event or anaesthesia.
Case Report: A 22-day-old female neonate was evaluated after a choking episode, with multiple episodes of desaturation during sleep and no other clinical signs. Diagnosis of CCHS was confirmed by identification of a missense variant c.305G>T  (p.Arg102Leu) in the PHOX2B gene.
Discussion: Identification of an NPARM variant complicates genotype-phenotype correlation. Nonetheless, NPARM variants in exon 2 have been linked to milder and later-onset clinical forms, as observed here. This case highlights the possibility of subclinical CCHS manifestations in the neonatal period, presenting as unexplained desaturation episodes, which may delay diagnosis.

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References

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Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H; ATS Congenital Central Hypoventilation Syndrome Subcommittee. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med. 2010;181(6):626-44. doi: https://doi.org/10.1164/rccm.200807-1069ST.

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Published

2026-07-24

How to Cite

1.
Gonçalves Marques A, Costa M, Cortesão C, Catalão D, Pereira C, Ramos L, et al. Early-onset Congenital Central Hypoventilation Syndrome – a case report of atypical presentation. BGMJ [Internet]. 2026 Jul. 24 [cited 2026 Aug. 16];35(2):97-100. Available from: https://revistas.rcaap.pt/bgmj/article/view/43509

Issue

Vol. 35 No. 2 (2026)

Section

Clinical Case Reports

License

Copyright (c) 2026 Ariana Gonçalves Marques, Mariana Costa, Chantal Cortesão, Daniela Catalão, Cristina Pereira, Lina Ramos, Núria Madureira

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