{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T20:29:18Z","timestamp":1788294558169,"version":"build-2803163510"},"reference-count":23,"publisher":"Wiley","issue":"19","license":[{"start":{"date-parts":[[2022,10,9]],"date-time":"2022-10-09T00:00:00Z","timestamp":1665273600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2022,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Brainstem disconnection syndrome is a rare and severe disease resulting from a midbrain\u2013hindbrain segmental defect. Clinical signs include a severe neurological impairment, an early death (usually during the first year of life), and pathognomonic postnatal brain imaging features. Two major hypotheses are proposed to explain the etiopathogenesis of this syndrome, namely an inborn error of morphogenesis or a vascular disruption defect.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Report and Literature Review<\/jats:title><jats:p>Here we report on prenatal (ultrasound; fetal MRI) and postnatal (MRI) neuroimaging findings observed in a full\u2010term female newborn with a brainstem disconnection syndrome. The prenatal and postnatal findings point toward an early fetal vascular disruption defect as the pregnancy was marked by three episodes of hospitalization resulting from a very severe maternal dehydration. The first episode took place as early as the 18th week of gestation. Our clinical follow\u2010up at 1\u2009year age is well in line with the findings observed in 13 other cases reported in the literature. Interestingly, among these 13 cases, a vascular disruption defect was suggested in\u00a08 patients and confirmed by autopsy in at least 2 cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In the present report, we bring objective evidence for the antenatal cause of a brainstem disconnection syndrome resulting from a vascular disruption defect occurring in the context of a severe maternal dehydration. In particular, our neuroimaging findings observed during pregnancy and after birth illustrate the prenatal occurrence of this vascular disruption defect.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.2100","type":"journal-article","created":{"date-parts":[[2022,10,10]],"date-time":"2022-10-10T11:34:23Z","timestamp":1665401663000},"page":"1298-1306","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Additional evidence for the vascular disruption defect hypothesis in a novel case of brainstem disconnection syndrome"],"prefix":"10.1002","volume":"114","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1173-7916","authenticated-orcid":false,"given":"Marie\u2010Aricie","family":"Vekemans","sequence":"first","affiliation":[{"name":"D\u00e9partement de Neurop\u00e9diatrie H\u00f4pital Armand Trousseau, APHP, Sorbonne Universit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Maurice","sequence":"additional","affiliation":[{"name":"D\u00e9partement de M\u00e9decine F\u0153tale H\u00f4pital Armand Trousseau, APHP, Sorbonne Universit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed","family":"Lachtar","sequence":"additional","affiliation":[{"name":"D\u00e9partement de N\u00e9onatologie H\u00f4pital Armand Trousseau, APHP, Sorbonne Universit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"El\u00e9onore","family":"Blondiaux","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Radiop\u00e9diatrie H\u00f4pital Armand\u2010Trousseau, APHP, Sorbonne Universit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Marie","family":"Jouannic","sequence":"additional","affiliation":[{"name":"D\u00e9partement de M\u00e9decine F\u0153tale H\u00f4pital Armand Trousseau, APHP, Sorbonne Universit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lydie","family":"Burglen","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Maladies Rares \u201cMalformations et Maladies Cong\u00e9nitales du Cervelet,\u201d D\u00e9partement de G\u00e9n\u00e9tique H\u00f4pital Armand Trousseau, APHP, Sorbonne Universit\u00e9  Paris France"},{"name":"Developmental Brain Disorders Laboratory Imagine Institute, INSERM UMR 1163  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Rodriguez","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurop\u00e9diatrie H\u00f4pital Armand Trousseau, APHP, Sorbonne Universit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Garel","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Radiop\u00e9diatrie H\u00f4pital Armand\u2010Trousseau, APHP, Sorbonne Universit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Valence","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurop\u00e9diatrie H\u00f4pital Armand Trousseau, APHP, Sorbonne Universit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,10,9]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62235"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp247"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1077049"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2005.06.003"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-009-1378-3"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0b013e3181c3a8bc"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.3233\/NPM-181745"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20449"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00234-014-1431-2"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2009.04.008"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1903"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0b013e3181ef2b71"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/324173"},{"key":"e_1_2_7_15_1","first-page":"1483","article-title":"Neonatal pontomedullary disconnection with aplasia or destruction of the lower brain stem: A case of pontoneocerebellar hypoplasia?","volume":"15","author":"Mamourian A. 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