{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T23:09:25Z","timestamp":1780441765885,"version":"3.54.1"},"reference-count":7,"publisher":"Georg Thieme Verlag KG","issue":"02","license":[{"start":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T00:00:00Z","timestamp":1778716800000},"content-version":"vor","delay-in-days":43,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["AJP Rep"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Background: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder that causes alveolar hypoventilation because of impaired chemoreceptor response to hypercapnia and hypoxia occurring due to a dysfunctional central autonomic drive. CCHS is a result of pathogenic variants of the PHOX2B gene, which affects neural crest cell development. Consequently, CCHS can be accompanied by dysregulation of the autonomic system, Hirschsprung\u2019s disease and other gastrointestinal disorders, cardiac arrhythmias, and neural cell-derived tumors. Disease severity correlates with mutation type and determines ventilatory requirements, with management centered on lifelong respiratory support and multidisciplinary monitoring for associated comorbidities.<\/jats:p>\n                  <jats:p>Case Presentation: This case describes a term infant delivered via emergency cesarean section for maternal hypotension and fetal bradycardia who presented with apnea and required intubation due to failure to respond to positive pressure ventilation. The infant experienced recurrent apnea, hypercarbia, and ventilator dependence due to multiple failed extubation attempts, with an unrevealing evaluation for pulmonary, cardiac, neurologic, metabolic, and infectious causes. Genetic testing identified a PHOX2B polyalanine repeat expansion consistent with CCHS. This case demonstrates a stepwise multidisciplinary approach with concurrent genetic evaluation that enabled early diagnosis, timely management, and improved outcome.<\/jats:p>","DOI":"10.1055\/a-2873-6868","type":"journal-article","created":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T22:36:57Z","timestamp":1778798217000},"page":"e105-e108","source":"Crossref","is-referenced-by-count":0,"title":["Refractory Neonatal Apnea Revealing Congenital Central Hypoventilation Syndrome: Improved Outcome through Early Multidisciplinary Intervention"],"prefix":"10.1055","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-6807-4333","authenticated-orcid":false,"given":"Michal M.","family":"Shalamov","sequence":"additional","affiliation":[{"name":"HMH K. Hovnanian Children\u2019s Hospital at Jersey Shore University Medical Center, New Jersey, United States","place":["Neptune City"],"department":["Department of Pediatrics\/Neonatology"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linsey R.","family":"Cromwell","sequence":"additional","affiliation":[{"name":"HMH K. Hovnanian Children\u2019s Hospital at Jersey Shore University Medical Center, New Jersey, United States","place":["Neptune City"],"department":["Department of Pediatrics\/Neonatology"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pallabi","family":"Guha","sequence":"additional","affiliation":[{"name":"HMH K. Hovnanian Children\u2019s Hospital at Jersey Shore University Medical Center, New Jersey, United States","place":["Neptune City"],"department":["Department of Pediatrics\/Neonatology"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2026,6,2]]},"reference":[{"issue":"03","key":"ref1","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1016\/j.ccm.2024.02.018","article-title":"Congenital central hypoventilation syndrome and disorders of control of ventilation","volume":"45","author":"A S Kasi","year":"2024","journal-title":"Clin Chest Med"},{"key":"ref2","first-page":"1993","volume-title":"Congenital central hypoventilation syndrome.","author":"D E Weese-Mayer","year":"2021"},{"issue":"07","key":"ref3","first-page":"e64884","article-title":"Congenital central hypoventilation syndrome: a case report","volume":"16","author":"G Kumar","year":"2024","journal-title":"Cureus"},{"issue":"03","key":"ref4","doi-asserted-by":"crossref","first-page":"e71012","DOI":"10.1002\/ppul.71012","article-title":"Congenital central hypoventilation syndrome (CCHS): patient quality of life and caregiver burden","volume":"60","author":"C M Rand","year":"2025","journal-title":"Pediatr Pulmonol"},{"issue":"03","key":"ref5","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1378\/chest.15-0402","article-title":"Congenital central hypoventilation syndrome: neurocognition already reduced in preschool-aged children","volume":"149","author":"A J Charnay","year":"2016","journal-title":"Chest"},{"issue":"04","key":"ref6","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1038\/ng1130","article-title":"Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome","volume":"33","author":"J Amiel","year":"2003","journal-title":"Nat Genet"},{"issue":"10","key":"ref7","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1164\/rccm.200602-305OC","article-title":"Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype","volume":"174","author":"E M Berry-Kravis","year":"2006","journal-title":"Am J Respir Crit Care Med"}],"container-title":["American Journal of Perinatology Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2873-6868.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T22:45:37Z","timestamp":1780440337000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2873-6868"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4]]},"references-count":7,"journal-issue":{"issue":"02","published-online":{"date-parts":[[2026,4,7]]},"published-print":{"date-parts":[[2026,4]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2873-6868","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["2157-6998","2157-7005"],"issn-type":[{"value":"2157-6998","type":"print"},{"value":"2157-7005","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,5,14]]},"published":{"date-parts":[[2026,4]]}}}