{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T09:20:10Z","timestamp":1788254410250,"version":"build-2803163510"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"vor","delay-in-days":243,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Radiology"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Brainstem disconnection syndrome (BDS) is an exceedingly rare congenital malformation of the hindbrain characterized by disconnection of the brainstem, often presenting with severe neurological deficits and early neonatal mortality. Whereas previous cases have documented isolated neurological anomalies, this report delineates a distinctive presentation of BDS associated with a specific constellation of multisystem vascular and extracerebral skeletal malformations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation<\/jats:title>\n                    <jats:p>A 4\u2010month\u2010old female infant, born from a discordant twin pregnancy, exhibited persistent neonatal respiratory failure, failure to wean from oxygen therapy, global tonic\u2013clonic seizures, and severe hypotonia. Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) of the brain demonstrated a complete absence of the pons, a slender tissue cord connecting the midbrain and medulla oblongata, extensive cerebellar hypoplasia, and nonopacification or aplasia of the basilar and distal vertebral arteries. Whole exome sequencing did not reveal any standard inherited neurodevelopmental mutations; however, genomic analysis identified carrier status for a biologically plausible frameshift variant in TMEM67, a gene heavily implicated in ciliary hindbrain morphogenesis. The implementation of targeted supportive care allowed the patient to survive beyond the typical early neonatal period, with the patient remaining alive at a 12\u2010month follow\u2010up.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This case broadens the known phenotypic and radiological range of BDS by reporting new multilevel skeletal and vascular co\u2010occurring conditions. The notable phenotypic differences seen in this twin pregnancy support the theory of early embryonic vascular disruption. Additionally, the detection of the TMEM67 variant indicates that ciliary gene mutations could be important genetic factors or modifiers in BDS.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1155\/crra\/9939709","type":"journal-article","created":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T09:01:21Z","timestamp":1788253281000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Brainstem Disconnection Syndrome in a Patient With Respiratory Failure and Failed Weaning From Oxygen: A Case Report"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-7197-1674","authenticated-orcid":false,"given":"Afnan","family":"Alshehri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-5195-2630","authenticated-orcid":false,"given":"Marah","family":"Ashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Sulaiman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Alzahrani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,1]]},"reference":[{"key":"e_1_2_9_1_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-009-1378-3"},{"key":"e_1_2_9_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2009.04.008"},{"key":"e_1_2_9_3_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-985907"},{"key":"e_1_2_9_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-005-1455-1"},{"key":"e_1_2_9_5_2","first-page":"1796","article-title":"Neonatal Pontomedullary Disconnection With Aplasia Or Destruction Of The Lower Brain Stem: A Case Of Pontoneocerebellar Hypoplasia?","volume":"15","author":"Mamourian A.","year":"1994","journal-title":"American Journal of Neuroradiology"},{"key":"e_1_2_9_6_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-50"},{"key":"e_1_2_9_7_2","doi-asserted-by":"publisher","DOI":"10.1148\/rg.250128"},{"key":"e_1_2_9_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/s1474-4422(13)70024-3"},{"key":"e_1_2_9_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq287"},{"key":"e_1_2_9_10_2","unstructured":"Pontocerebellar Hypoplasia Type 1 2021 https:\/\/www.orpha.net\/en\/disease\/detail\/2254."},{"key":"e_1_2_9_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.2100"},{"key":"e_1_2_9_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050503"},{"key":"e_1_2_9_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10024-001-0103-5"},{"key":"e_1_2_9_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2005.06.003"},{"key":"e_1_2_9_15_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1077049"}],"container-title":["Case Reports in Radiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crra\/9939709","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crra\/9939709","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crra\/9939709","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T09:01:22Z","timestamp":1788253282000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crra\/9939709"}},"subtitle":[],"editor":[{"given":"Shashank","family":"Kaushik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crra\/9939709"],"URL":"https:\/\/doi.org\/10.1155\/crra\/9939709","archive":["Portico"],"relation":{},"ISSN":["2090-6862","2090-6870"],"issn-type":[{"value":"2090-6862","type":"print"},{"value":"2090-6870","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2025-06-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"9939709"}}