{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T09:02:30Z","timestamp":1787907750287,"version":"build-2784847793"},"reference-count":20,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,9,7]]},"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:p>Congenital central hypoventilation syndrome (CCHS) is an uncommon genetic disease characterised by an autonomic nervous system dysfunction that affects ventilatory homeostasis. Involvement of other systems is also described, mainly cardiovascular, gastrointestinal and central nervous systems. We describe a rare case of CCHS diagnosed in a term newborn who presented with persistent apnoea in the first hours of life. After an exhaustive aetiological study excluding primary pulmonary, cardiac, metabolic and neurological diseases, this diagnosis was confirmed by a paired-like homeobox 2B gene sequence analysis. During hospitalisation, ventilation was optimised and multidisciplinary follow-up was initiated, including genetic counselling. At 2 months old, the child was discharged under non-invasive ventilation during sleep. This case illustrates the importance of early diagnosis, including genetic study and advances in home ventilation. These factors allow early hospital discharge and timely multidisciplinary intervention, which is crucial for patients\u2019 quality of life and outcome optimisation.<\/jats:p>","DOI":"10.1136\/bcr-2021-244679","type":"journal-article","created":{"date-parts":[[2021,9,20]],"date-time":"2021-09-20T12:07:27Z","timestamp":1632139647000},"page":"e244679","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Congenital central hypoventilation syndrome: a life-threatening cause of neonatal apnoea"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8250-7996","authenticated-orcid":false,"given":"Carolina","family":"Castro","sequence":"first","affiliation":[{"name":"Pediatrics, Hospital Pedro Hispano, Matosinhos, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e1udia","family":"Correia","sequence":"additional","affiliation":[{"name":"Pediatrics, Centro Hospitalar Universit\u00e1rio do Porto EPE Centro Materno-Infantil do Norte Dr Albino Aroso, Porto, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Martins","sequence":"additional","affiliation":[{"name":"Neonatology, Hospital Pedro Hispano, Matosinhos, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandrina","family":"Portela","sequence":"additional","affiliation":[{"name":"Neonatology, Hospital Pedro Hispano, Matosinhos, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2021,9,20]]},"reference":[{"key":"2025082622510491000_14.9.e244679.1","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/s13760-020-01363-w","article-title":"Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation","volume":"121","author":"Meylemans","year":"2021","journal-title":"Acta Neurol Belg"},{"key":"2025082622510491000_14.9.e244679.2","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-197011000-00003"},{"key":"2025082622510491000_14.9.e244679.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.autneu.2017.11.003"},{"key":"2025082622510491000_14.9.e244679.4","doi-asserted-by":"crossref","first-page":"733","DOI":"10.21037\/tp-20-303","article-title":"Congenital central hypoventilation syndrome in neonates: report of fourteen new cases and a review of the literature","volume":"10","author":"Mei","year":"2021","journal-title":"Transl Pediatr"},{"key":"2025082622510491000_14.9.e244679.5","unstructured":"Sheldon S , Ferber R , Kryger M . 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Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype\u2013phenotype correlation in congenital central hypoventilation syndrome (CCHS). 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