{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T17:47:30Z","timestamp":1763142450607,"version":"3.43.0"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,8,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2025-0116_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Wolcott\u2013Rallison syndrome (WRS) is an autosomal recessive multisystemic genetic disorder caused by homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 gene. It typically presents with neonatal onset insulin-dependent diabetes. Here, we report a 14-year-old male patient with WRS who presented with late-onset diabetes mellitus.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2025-0116_abs_201\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A 14-year-old male patient presented with acute liver failure secondary to acute gastroenteritis. On physical examination, signs of chronic malnutrition and muscle atrophy in the extremities were evident, accompanied by a waddling gait. Infectious, autoimmune, and metabolic diseases were excluded. Liver tests improved within 3\u00a0weeks with supportive treatment. Direct radiographs were consistent with multiple epiphyseal dysplasia. High blood glucose levels were observed at follow-up in the intensive care unit. At the 4-month follow-up, HbA1c increased to 55\u202fmmol\/mol (7.2\u202f%) and basal insulin treatment was started at a dose of 0.4U\/kg\/day. Glycemic control was achieved after 6\u00a0months.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2025-0116_abs_301\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Diabetes typically manifests within the first 6\u00a0months of life, with a median age of 2.5\u00a0months, and has been observed in all patients with WRS reported in the literature. Our case is an interesting WRS patient whose diabetes started at the age of 14\u00a0years with a novel mutation.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2025-0116","type":"journal-article","created":{"date-parts":[[2025,5,26]],"date-time":"2025-05-26T03:13:18Z","timestamp":1748229198000},"page":"868-872","source":"Crossref","is-referenced-by-count":1,"title":["Wolcott\u2013Rallison syndrome: late-onset diabetes, multiple epiphyseal dysplasia, and acute liver failure\u00a0\u2013\u00a0a case report"],"prefix":"10.1515","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1885-6611","authenticated-orcid":false,"given":"Sel\u00e7uk","family":"Teke","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine , Ankara University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9442-7790","authenticated-orcid":false,"given":"Zarife","family":"Kulo\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine , Ankara University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9176-9100","authenticated-orcid":false,"given":"Arzu Meltem","family":"Demir","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine , Ankara University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3551-7267","authenticated-orcid":false,"given":"Ceyda Tuna","family":"Kirsa\u00e7lio\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine , Ankara University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5624-3878","authenticated-orcid":false,"given":"Hatice","family":"Mutlu Albayrak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Genetics, Faculty of Medicine , Ankara University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3459-5781","authenticated-orcid":false,"given":"Elif","family":"\u00d6zsu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Endocrinology, Faculty of Medicine , Ankara University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6878-9122","authenticated-orcid":false,"given":"\u0130lkyaz","family":"T\u00fcrktan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Endocrinology, Faculty of Medicine , Ankara University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-3153-640X","authenticated-orcid":false,"given":"Serpil","family":"\u00d6zdemir","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine , Ankara University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0180-0013","authenticated-orcid":false,"given":"\u00d6mer Suat","family":"Fitoz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Radiology, Faculty of Medicine , Ankara University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9458-2803","authenticated-orcid":false,"given":"Tan\u0131l","family":"Kendirli","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric \u0130ntensive Care, Faculty of Medicine , Ankara University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6665-2912","authenticated-orcid":false,"given":"Serap","family":"Teber","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Neurology, Faculty of Medicine , Ankara University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5880-1113","authenticated-orcid":false,"given":"Fatma Tu\u011fba","family":"Emino\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Metabolism, Faculty of Medicine , Ankara University , Ankara , T\u00fcrkiye"},{"name":"Rare Disases Research and Application Center , Ankara University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3133-9846","authenticated-orcid":false,"given":"Aydan","family":"Kansu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine , Ankara University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,5,26]]},"reference":[{"doi-asserted-by":"crossref","unstructured":"Aldrian, D, Bochdansky, C, Kavallar, AM, Mayerhofer, C, Deeb, A, Habeb, A, et al.. Natural history of Wolcott-Rallison syndrome: a systematic review and follow-up study. Liver Int 2024;44:811\u201322. https:\/\/doi.org\/10.1111\/liv.15834.","key":"2025080412565945966_j_jpem-2025-0116_ref_001","DOI":"10.1111\/liv.15834"},{"doi-asserted-by":"crossref","unstructured":"Sen\u00e9e, V, Vattem, KM, Del\u00e9pine, M, Rainbow, LA, Haton, C, Lecoq, A, et al.. Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity. Diabetes 2004;53:1876\u201383. https:\/\/doi.org\/10.2337\/diabetes.53.7.1876.","key":"2025080412565945966_j_jpem-2025-0116_ref_002","DOI":"10.2337\/diabetes.53.7.1876"},{"doi-asserted-by":"crossref","unstructured":"Julier, C, Nicolino, M. Wolcott-Rallison syndrome. 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J\u00a0Clin Res Pediatr Endocrinol 2012;4:101\u20133. https:\/\/doi.org\/10.4274\/jcrpe.619.","key":"2025080412565945966_j_jpem-2025-0116_ref_008","DOI":"10.4274\/Jcrpe.619"},{"doi-asserted-by":"crossref","unstructured":"Ozbek, MN, Sen\u00e9e, V, Aydemir, S, Kotan, LD, Mungan, NO, Yuksel, B, et al.. Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature. Pediatr Diabetes 2010;11:279\u201385. https:\/\/doi.org\/10.1111\/j.1399-5448.2009.00591.x.","key":"2025080412565945966_j_jpem-2025-0116_ref_009","DOI":"10.1111\/j.1399-5448.2009.00591.x"},{"doi-asserted-by":"crossref","unstructured":"Demirbilek, H, Arya, VB, Ozbek, MN, Houghton, JA, Baran, RT, Akar, M, et al.. Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations. 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