{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T22:36:32Z","timestamp":1767911792550,"version":"3.49.0"},"reference-count":21,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T00:00:00Z","timestamp":1697414400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Reports"],"abstract":"<jats:p>Wolcott-Rallison syndrome is a rare cause of permanent neonatal diabetes mellitus caused by mutations in the eukaryotic translation initiation factor 2 alpha kinase 3 gene (EIF2AK3). Individuals affected by this disorder have severe hyperglycemia, pancreatic failure, and bone abnormalities and are prone to severe and life-threatening episodes of liver failure. This report illustrates the case of a 2-month-old infant with extreme hyperglycemia and severe diabetic ketoacidosis. Acute management was focused on correcting severe acidosis. Further management aimed to obtain stable blood glucose levels, balancing the patient\u2019s need for comfort and lack of distress with the clinicians\u2019 need for adequate information regarding the patient\u2019s glycemic control. Genetic testing of the patient and his parents confirmed the diagnosis. The follow-up for 18 months after diagnosis is detailed, illustrating both the therapeutic success of subcutaneous insulin therapy and the ongoing complications that patients with Wolcott-Rallison syndrome are subject to.<\/jats:p>","DOI":"10.3390\/pediatric15040056","type":"journal-article","created":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T08:32:57Z","timestamp":1697445177000},"page":"608-616","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Wolcott-Rallison Syndrome, a Rare Cause of Permanent Diabetes Mellitus in Infants\u2014Case Report"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2771-2302","authenticated-orcid":false,"given":"Alexandru-\u0218tefan","family":"Niculae","sequence":"first","affiliation":[{"name":"2nd Pediatric Discipline, Department of Mother and Child, Iuliu Hatieganu University of Medicine and Pharmacy Cluj-Napoca, 400177 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Bolba","sequence":"additional","affiliation":[{"name":"2nd Pediatric Clinic, Emergency Clinical Hospital for Children Cluj-Napoca, 400177 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7022-6345","authenticated-orcid":false,"given":"Alina","family":"Grama","sequence":"additional","affiliation":[{"name":"2nd Pediatric Discipline, Department of Mother and Child, Iuliu Hatieganu University of Medicine and Pharmacy Cluj-Napoca, 400177 Cluj-Napoca, Romania"},{"name":"2nd Pediatric Clinic, Emergency Clinical Hospital for Children Cluj-Napoca, 400177 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Mari\u015f","sequence":"additional","affiliation":[{"name":"Intesive Care Unit, Emergency Clinical Hospital for Children Cluj-Napoca, 400370 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Bodea","sequence":"additional","affiliation":[{"name":"Intesive Care Unit, Emergency Clinical Hospital for Children Cluj-Napoca, 400370 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simona","family":"C\u0103inap","sequence":"additional","affiliation":[{"name":"2nd Pediatric Discipline, Department of Mother and Child, Iuliu Hatieganu University of Medicine and Pharmacy Cluj-Napoca, 400177 Cluj-Napoca, Romania"},{"name":"2nd Pediatric Clinic, Emergency Clinical Hospital for Children Cluj-Napoca, 400177 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Mititelu","sequence":"additional","affiliation":[{"name":"2nd Pediatric Discipline, Department of Mother and Child, Iuliu Hatieganu University of Medicine and Pharmacy Cluj-Napoca, 400177 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Otilia","family":"Fufezan","sequence":"additional","affiliation":[{"name":"Department of Imaging, Emergency Clinical Hospital for Children Cluj-Napoca, 400370 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4931-1219","authenticated-orcid":false,"given":"Tudor Lucian","family":"Pop","sequence":"additional","affiliation":[{"name":"2nd Pediatric Discipline, Department of Mother and Child, Iuliu Hatieganu University of Medicine and Pharmacy Cluj-Napoca, 400177 Cluj-Napoca, Romania"},{"name":"2nd Pediatric Clinic, Emergency Clinical Hospital for Children Cluj-Napoca, 400177 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,10,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1186\/1750-1172-5-29","article-title":"Wolcott-Rallison Syndrome","volume":"5","author":"Julier","year":"2010","journal-title":"Orphanet J. 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