{"id":"https://openalex.org/W7204686778","doi":"https://doi.org/10.1016/j.bdcasr.2026.100157","title":"Congenital central hypoventilation syndrome in a neonate presenting as nonketotic hyperglycinemia; a case report and literature review","display_name":"Congenital central hypoventilation syndrome in a neonate presenting as nonketotic hyperglycinemia; a case report and literature review","publication_year":2026,"publication_date":"2026-08-30","ids":{"openalex":"https://openalex.org/W7204686778","doi":"https://doi.org/10.1016/j.bdcasr.2026.100157"},"language":"en","primary_location":{"id":"doi:10.1016/j.bdcasr.2026.100157","doi":"https://doi.org/10.1016/j.bdcasr.2026.100157","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.bdcasr.2026.100157","pdf_url":"https://www.sciencedirect.com/science/article/pii/S2950221726000334/pdf","source":{"id":"https://openalex.org/S4390297080","display_name":"Brain and Development Case Reports","issn_l":"2950-2217","issn":["2950-2217"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brain and Development Case Reports","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://www.sciencedirect.com/science/article/pii/S2950221726000334/pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5114318951","display_name":"Mohammed Alra\u2019e","orcid":"https://orcid.org/0009-0000-3419-389X","observed_orcids":["https://orcid.org/0009-0000-3419-389X"]},"institutions":[{"id":"https://openalex.org/I122544976","display_name":"Hebron University","ror":"https://ror.org/04wwgp209","country_code":"PS","type":"education","lineage":["https://openalex.org/I122544976"]}],"countries":["PS"],"is_corresponding":true,"raw_author_name":"Mohammed Alra\u2019e","raw_affiliation_strings":["Faculty of Medicine, Hebron University, Hebron, Palestine"],"raw_orcid":"https://orcid.org/0009-0000-3419-389X","affiliations":[{"raw_affiliation_string":"Faculty of Medicine, Hebron University, Hebron, Palestine","institution_ids":["https://openalex.org/I122544976"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5148654257","display_name":"Shima Darwish","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I122544976","display_name":"Hebron University","ror":"https://ror.org/04wwgp209","country_code":"PS","type":"education","lineage":["https://openalex.org/I122544976"]}],"countries":["PS"],"is_corresponding":false,"raw_author_name":"Shima Darwish","raw_affiliation_strings":["Faculty of Medicine, Hebron University, Hebron, Palestine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Medicine, Hebron University, Hebron, Palestine","institution_ids":["https://openalex.org/I122544976"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5148644653","display_name":"Wasan Harashe","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I122544976","display_name":"Hebron University","ror":"https://ror.org/04wwgp209","country_code":"PS","type":"education","lineage":["https://openalex.org/I122544976"]}],"countries":["PS"],"is_corresponding":false,"raw_author_name":"Wasan Harashe","raw_affiliation_strings":["Faculty of Medicine, Hebron University, Hebron, Palestine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Medicine, Hebron University, Hebron, Palestine","institution_ids":["https://openalex.org/I122544976"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5130702239","display_name":"Osama Hazem Mahmoud Jabbarin","orcid":"https://orcid.org/0009-0005-8176-8277","observed_orcids":["https://orcid.org/0009-0005-8176-8277"]},"institutions":[{"id":"https://openalex.org/I122544976","display_name":"Hebron University","ror":"https://ror.org/04wwgp209","country_code":"PS","type":"education","lineage":["https://openalex.org/I122544976"]}],"countries":["PS"],"is_corresponding":false,"raw_author_name":"Osama Hazem Mahmoud Jabbarin","raw_affiliation_strings":["Faculty of Medicine, Hebron University, Hebron, Palestine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Medicine, Hebron University, Hebron, Palestine","institution_ids":["https://openalex.org/I122544976"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5118615767","display_name":"Ibrahim Kattoush","orcid":"https://orcid.org/0009-0000-0172-4287","observed_orcids":["https://orcid.org/0009-0000-0172-4287"]},"institutions":[{"id":"https://openalex.org/I122544976","display_name":"Hebron University","ror":"https://ror.org/04wwgp209","country_code":"PS","type":"education","lineage":["https://openalex.org/I122544976"]}],"countries":["PS"],"is_corresponding":false,"raw_author_name":"Ibrahim Kattoush","raw_affiliation_strings":["Faculty of Medicine, Hebron University, Hebron, Palestine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Medicine, Hebron University, Hebron, Palestine","institution_ids":["https://openalex.org/I122544976"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5136998408","display_name":"Ahmed I. S. Alnatsha","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I122544976","display_name":"Hebron University","ror":"https://ror.org/04wwgp209","country_code":"PS","type":"education","lineage":["https://openalex.org/I122544976"]}],"countries":["PS"],"is_corresponding":false,"raw_author_name":"Ahmed I.S. Alnatsha","raw_affiliation_strings":["Faculty of Medicine, Hebron University, Hebron, Palestine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Medicine, Hebron University, Hebron, Palestine","institution_ids":["https://openalex.org/I122544976"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5118500945","display_name":"Qassam Rae","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I37322517","display_name":"Omdurman Islamic University","ror":"https://ror.org/025qja684","country_code":"SD","type":"education","lineage":["https://openalex.org/I37322517"]}],"countries":["SD"],"is_corresponding":false,"raw_author_name":"Qassam Rae","raw_affiliation_strings":["Faculty of Medicine, Omdurman Islamic University, Hebron, Palestine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Medicine, Omdurman Islamic University, Hebron, Palestine","institution_ids":["https://openalex.org/I37322517"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5114318951"],"corresponding_institution_ids":["https://openalex.org/I122544976"],"apc_list":{"value":800,"currency":"USD","value_usd":800},"apc_paid":{"value":800,"currency":"USD","value_usd":800},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"4","issue":"4","first_page":"100157","last_page":"100157"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11456","display_name":"Neuroscience of respiration and sleep","score":0.9965999722480774,"subfield":{"id":"https://openalex.org/subfields/2807","display_name":"Endocrine and Autonomic Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11456","display_name":"Neuroscience of respiration and sleep","score":0.9965999722480774,"subfield":{"id":"https://openalex.org/subfields/2807","display_name":"Endocrine and Autonomic Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10234","display_name":"Obstructive Sleep Apnea Research","score":0.0005000000237487257,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/congenital-central-hypoventilation-syndrome","display_name":"congenital central hypoventilation syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/nonketotic-hyperglycinemia","display_name":"nonketotic hyperglycinemia","score":0.9829999804496765},{"id":"https://openalex.org/keywords/neonatal-apnea","display_name":"neonatal apnea","score":0.9190000295639038},{"id":"https://openalex.org/keywords/misdiagnosis","display_name":"misdiagnosis","score":0.8569999933242798},{"id":"https://openalex.org/keywords/inborn-errors-of-metabolism","display_name":"inborn errors of metabolism","score":0.7390000224113464},{"id":"https://openalex.org/keywords/ventilator-dependence","display_name":"ventilator dependence","score":0.7289999723434448},{"id":"https://openalex.org/keywords/tracheostomy-complications","display_name":"tracheostomy complications","score":0.8529999852180481},{"id":"https://openalex.org/keywords/neurogenetic-disorders","display_name":"neurogenetic disorders","score":0.656000018119812}],"concepts":[{"id":"https://openalex.org/C2910106207","wikidata":"https://www.wikidata.org/wiki/Q979129","display_name":"Congenital central hypoventilation syndrome","level":4,"score":0.986299991607666},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8219000101089478},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.667900025844574},{"id":"https://openalex.org/C2781185993","wikidata":"https://www.wikidata.org/wiki/Q5958026","display_name":"Hyperglycinemia","level":4,"score":0.6013000011444092},{"id":"https://openalex.org/C2779594553","wikidata":"https://www.wikidata.org/wiki/Q1641494","display_name":"Hypoventilation","level":3,"score":0.49410000443458557},{"id":"https://openalex.org/C2777601897","wikidata":"https://www.wikidata.org/wiki/Q3409113","display_name":"Presentation (obstetrics)","level":2,"score":0.48190000653266907},{"id":"https://openalex.org/C2781326671","wikidata":"https://www.wikidata.org/wiki/Q754424","display_name":"Apnea","level":2,"score":0.4244000017642975},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.3499000072479248},{"id":"https://openalex.org/C2778908642","wikidata":"https://www.wikidata.org/wiki/Q200779","display_name":"Genetic disorder","level":3,"score":0.3327000141143799},{"id":"https://openalex.org/C2776888751","wikidata":"https://www.wikidata.org/wiki/Q767485","display_name":"Respiratory failure","level":2,"score":0.2994000017642975},{"id":"https://openalex.org/C177713679","wikidata":"https://www.wikidata.org/wiki/Q679690","display_name":"Intensive care medicine","level":1,"score":0.2973000109195709},{"id":"https://openalex.org/C2910343542","wikidata":"https://www.wikidata.org/wiki/Q2712836","display_name":"Genetic Condition","level":2,"score":0.2971999943256378},{"id":"https://openalex.org/C529278444","wikidata":"https://www.wikidata.org/wiki/Q47273","display_name":"Central nervous system","level":2,"score":0.29269999265670776},{"id":"https://openalex.org/C3019607859","wikidata":"https://www.wikidata.org/wiki/Q727096","display_name":"Congenital malformations","level":3,"score":0.28690001368522644},{"id":"https://openalex.org/C2780801072","wikidata":"https://www.wikidata.org/wiki/Q837512","display_name":"Differential diagnosis","level":2,"score":0.28209999203681946},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.27149999141693115},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.2685999870300293},{"id":"https://openalex.org/C2779701055","wikidata":"https://www.wikidata.org/wiki/Q929833","display_name":"Rare disease","level":3,"score":0.26570001244544983},{"id":"https://openalex.org/C2779438767","wikidata":"https://www.wikidata.org/wiki/Q112412","display_name":"Congenital myopathy","level":4,"score":0.26010000705718994},{"id":"https://openalex.org/C2780168309","wikidata":"https://www.wikidata.org/wiki/Q3620651","display_name":"Central sleep apnea","level":4,"score":0.2581999897956848},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.25529998540878296},{"id":"https://openalex.org/C2779546488","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Hypotonia","level":2,"score":0.25099998712539673},{"id":"https://openalex.org/C3019796121","wikidata":"https://www.wikidata.org/wiki/Q5048356","display_name":"Case presentation","level":2,"score":0.250900000333786}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.bdcasr.2026.100157","doi":"https://doi.org/10.1016/j.bdcasr.2026.100157","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.bdcasr.2026.100157","pdf_url":"https://www.sciencedirect.com/science/article/pii/S2950221726000334/pdf","source":{"id":"https://openalex.org/S4390297080","display_name":"Brain and Development Case Reports","issn_l":"2950-2217","issn":["2950-2217"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brain and Development Case Reports","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1016/j.bdcasr.2026.100157","doi":"https://doi.org/10.1016/j.bdcasr.2026.100157","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.bdcasr.2026.100157","pdf_url":"https://www.sciencedirect.com/science/article/pii/S2950221726000334/pdf","source":{"id":"https://openalex.org/S4390297080","display_name":"Brain and Development Case Reports","issn_l":"2950-2217","issn":["2950-2217"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brain and Development Case Reports","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9922999739646912,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7204686778.pdf","grobid_xml":"https://content.openalex.org/works/W7204686778.grobid-xml"},"referenced_works_count":16,"referenced_works":["https://openalex.org/W1855588443","https://openalex.org/W1903603555","https://openalex.org/W1919239739","https://openalex.org/W2064706368","https://openalex.org/W2087553940","https://openalex.org/W2117063762","https://openalex.org/W2128066493","https://openalex.org/W2165930527","https://openalex.org/W2340199437","https://openalex.org/W2465825877","https://openalex.org/W2745048905","https://openalex.org/W2903475674","https://openalex.org/W3087567730","https://openalex.org/W4281554647","https://openalex.org/W4398243862","https://openalex.org/W4401576887"],"related_works":["https://openalex.org/W4213429857","https://openalex.org/W7161110204","https://openalex.org/W4399620858","https://openalex.org/W4410273169","https://openalex.org/W3200129159","https://openalex.org/W2013921748","https://openalex.org/W2320264803","https://openalex.org/W2001323921","https://openalex.org/W2300672152","https://openalex.org/W2949378523"],"abstract_inverted_index":{"Introduction":[0],"Congenital":[1],"central":[2,12,19],"hypoventilation":[3],"syndrome":[4],"(CCHS)":[5],"is":[6,46],"a":[7,29,60,68,110,119,129],"neurogenetic":[8],"disorder":[9],"of":[10,18,21,50,62,70,75,79,100,112,121,128,136,151,161,166,176],"the":[11,32,73,76,115,126,134,149,174],"nervous":[13],"system":[14],"characterized":[15],"by":[16,28],"failure":[17],"control":[20],"breathing,":[22],"leading":[23],"to":[24,159,170],"apnea.":[25],"It's":[26],"caused":[27],"mutation":[30],"in":[31,142],"PHOX2B":[33,130],"gene.":[34],"Patients":[35],"with":[36,67,90],"this":[37,56,143,171],"condition":[38],"can":[39,54,184],"be":[40,185],"ventilator":[41],"dependent.":[42],"Nonketotic":[43],"hyperglycinemia":[44],"(NKH)":[45],"an":[47],"inborn":[48],"error":[49],"metabolism":[51],"and":[52,102,178,189],"potentially":[53],"mimic":[55],"syndrome.":[57],"We":[58],"report":[59],"case":[61,111,120],"CCHS":[63,177],"that":[64,180],"initially":[65,108],"presented":[66],"picture":[69],"NKH,":[71],"delaying":[72,173],"diagnosis":[74,135,175],"primary":[77],"cause":[78],"brain":[80],"disorder.":[81],"Case":[82],"presentation":[83],"A":[84],"full-term":[85],"female":[86],"neonate":[87],"was":[88,106,140,146,168],"born":[89],"normal":[91],"growth":[92],"parameters.":[93],"After":[94],"birth,":[95],"she":[96,155],"experienced":[97],"recurrent":[98],"attacks":[99],"apnea":[101],"desaturation.":[103],"The":[104],"patient":[105],"misdiagnosed":[107],"as":[109,118],"seizure":[113],"and,":[114],"second":[116],"time":[117],"NKH.":[122],"Genetic":[123],"testing":[124],"revealed":[125],"presence":[127],"gene":[131],"mutation,":[132],"confirming":[133],"CCHS.":[137],"Multidisciplinary":[138],"management":[139],"essential":[141],"case.":[144],"She":[145],"ventilator-dependent":[147],"until":[148],"age":[150],"5":[152],"months,":[153],"when":[154],"passed":[156],"away":[157],"secondary":[158],"complications":[160],"tracheostomy.":[162],"Conclusion":[163],"Initial":[164],"misdiagnosis":[165],"NKH":[167],"unique":[169],"case,":[172],"underscoring":[179],"such":[181],"atypical":[182],"presentations":[183],"hidden":[186],"behind":[187],"rare":[188],"serious":[190],"conditions.":[191]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2026-08-31T00:00:00"}