{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,4]],"date-time":"2025-05-04T20:40:08Z","timestamp":1746391208418,"version":"3.40.4"},"reference-count":8,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"12","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Emer Care"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Septo-optic dysplasia is a rare congenital heterogeneous malformation comprising at least 2 components of the triad: optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects. We report a 2-month-old girl who presented with hypernatremia, constipation, and increased sleepiness with mother's recent appreciation of abnormal eye movements. We discuss the diagnosis and management of this patient who avoided significant morbidity by prompt diagnosis based initially on clinical suspicion. This case report emphasizes that thorough laboratory and physical evaluation of similar cases as presentation can vary considerably based on degree of pituitary dysfunction. Because of this variable presentation, diagnosis is typically delayed in otherwise healthy appearing infants early in their course of illness. To our knowledge, this is the first emergency medicine case report to discuss this diagnosis.<\/jats:p>","DOI":"10.1097\/pec.0000000000001791","type":"journal-article","created":{"date-parts":[[2019,3,18]],"date-time":"2019-03-18T13:57:52Z","timestamp":1552917472000},"page":"e877-e878","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Hypernatremia in a Sleepy 2-Month-Old With Mention of Abnormal Eye Movements"],"prefix":"10.1097","volume":"37","author":[{"given":"Steven Barron","family":"Frazier","sequence":"first","affiliation":[{"name":"Department of Pediatrics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nina M.","family":"Fitzgerald","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","published-online":{"date-parts":[[2019,3,13]]},"reference":[{"key":"bib1-20250504","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1210\/jc.2015-3108","article-title":"Central diabetes insipidus in infancy with or without hypothalamic adipsic hypernatremia syndrome: early identification and outcome","volume":"101","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"bib2-20250504","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1038\/ejhg.2009.125","article-title":"Septo-optic dysplasia","volume":"18","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"bib3-20250504","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1186\/1756-0500-7-191","article-title":"Septo-optic dysplasia plus: a case report","volume":"7","year":"2014","journal-title":"BMC Res Notes"},{"key":"bib4-20250504","first-page":"1057","article-title":"Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study","volume":"28","year":"2015","journal-title":"J Pediatr Endocrinol Metab"},{"key":"bib5-20250504","first-page":"88","article-title":"Septo-optic dysplasia syndrome: a case report","volume":"1","year":"2006","journal-title":"Iran J Pediatr"},{"key":"bib6-20250504","first-page":"1167","article-title":"Diagnosis of septo-optic dysplasia in a neonate with hypernatremia, hypoglycemia, and persistent hypothermia","volume":"26","year":"2013","journal-title":"J Pediatr Endocrinol Metab"},{"key":"bib7-20250504","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.yapd.2016.04.009","article-title":"The optic nerve hypoplasia spectrum: review of the literature and clinical guidelines","volume":"63","year":"2016","journal-title":"Adv Pediatr"},{"key":"bib8-20250504","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1111\/j.1469-8749.2010.03664.x","article-title":"Social communication difficulties and autism spectrum disorder in young children with optic nerve hypoplasia and\/or septo-optic dysplasia","volume":"52","year":"2010","journal-title":"Dev Med Child Neurol"}],"container-title":["Pediatric Emergency Care"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/PEC.0000000000001791","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,4]],"date-time":"2025-05-04T20:04:48Z","timestamp":1746389088000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/10.1097\/PEC.0000000000001791"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,13]]},"references-count":8,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.1097\/pec.0000000000001791","relation":{},"ISSN":["1535-1815","0749-5161"],"issn-type":[{"type":"electronic","value":"1535-1815"},{"type":"print","value":"0749-5161"}],"subject":[],"published":{"date-parts":[[2019,3,13]]}}}