{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T00:35:44Z","timestamp":1780706144674,"version":"3.54.1"},"reference-count":23,"publisher":"The Endocrine Society","issue":"10","license":[{"start":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T00:00:00Z","timestamp":1758153600000},"content-version":"vor","delay-in-days":30,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100018497","name":"Children's Discovery and Innovation Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100018497","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Association of Medical School Pediatric Department Chairs","award":["NICHD 2K12HD000850"],"award-info":[{"award-number":["NICHD 2K12HD000850"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,8,19]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Neonatal diabetes is commonly defined by presentation in the first 6 months of life, with subsets of permanent and transient neonatal diabetes mellitus (TNDM) distinguished by spontaneous resolution of hyperglycemia in the latter. Infants with TNDM frequently require hospitalization for rehydration but characteristically do not present with a severe clinical course with ketoacidosis. Here we present a 19-day-old infant with a history of intrauterine growth restriction, small for gestational age, and normal blood sugars in the first 25\u2005hours of life who presented with respiratory distress that rapidly progressed to shock and multiorgan failure. Diagnostic studies on presentation revealed severe hyperglycemia, metabolic acidosis, transaminitis, acute kidney injury, hyperammonemia, and thalamic hyperintensities that collectively raised suspicion for a metabolic\/mitochondrial disorder. The patient's clinical course and genetic studies, however, converged on a diagnosis of TNDM due to uniparental disomy of chromosome 6. Diabetes has resolved, but the patient has endured permanent motor deficits associated with thalamic hemorrhage at presentation. This case highlights that TNDM can escape detection by blood glucose measurements in the first days of life and indeed present in severe diabetic ketoacidosis, which can further progress to shock and multiorgan failure that may mimic a metabolic\/mitochondrial disorder.<\/jats:p>","DOI":"10.1210\/jcemcr\/luaf145","type":"journal-article","created":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T00:04:24Z","timestamp":1758326664000},"source":"Crossref","is-referenced-by-count":3,"title":["6q24-Related Transient Neonatal Diabetes Mellitus Presenting With Severe Diabetic Ketoacidosis and Multiorgan Failure"],"prefix":"10.1210","volume":"3","author":[{"given":"Bassem M","family":"Shoucri","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Endocrinology, UCLA David Geffen School of Medicine , Los Angeles, CA 90095 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8535-1413","authenticated-orcid":false,"given":"Apisadaporn","family":"Thambundit","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Endocrinology, UCLA David Geffen School of Medicine , Los Angeles, CA 90095 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-5546-1129","authenticated-orcid":false,"given":"Dennis J","family":"Chia","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Endocrinology, UCLA David Geffen School of Medicine , Los Angeles, CA 90095 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2025,9,18]]},"reference":[{"issue":"9997","key":"2025091920041512900_luaf145-B1","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1016\/S0140-6736(15)60098-8","article-title":"The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study","volume":"386","author":"De Franco","year":"2015","journal-title":"Lancet"},{"key":"2025091920041512900_luaf145-B2","volume-title":"GeneReviews\u00ae","author":"Temple","year":"1993"},{"issue":"8","key":"2025091920041512900_luaf145-B3","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.2337\/diabetes.49.8.1359","article-title":"Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes","volume":"49","author":"Temple","year":"2000","journal-title":"Diabetes"},{"issue":"7","key":"2025091920041512900_luaf145-B4","doi-asserted-by":"crossref","first-page":"1930","DOI":"10.2337\/db07-0043","article-title":"Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood","volume":"56","author":"Flanagan","year":"2007","journal-title":"Diabetes"},{"issue":"3","key":"2025091920041512900_luaf145-B5","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1093\/hmg\/9.3.453","article-title":"The cell cycle control gene ZAC\/PLAGL1 is imprinted\u2013a strong candidate gene for transient neonatal diabetes","volume":"9","author":"Kamiya","year":"2000","journal-title":"Hum Mol Genet"},{"issue":"3","key":"2025091920041512900_luaf145-B6","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1172\/JCI200419876","article-title":"Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM","volume":"114","author":"Ma","year":"2004","journal-title":"J Clin Invest"},{"issue":"10","key":"2025091920041512900_luaf145-B7","doi-asserted-by":"crossref","first-page":"2405","DOI":"10.2337\/diacare.27.10.2405","article-title":"Beta-cell dysfunction in classic transient neonatal diabetes is characterized by impaired insulin response to glucose but normal response to glucagon","volume":"27","author":"Valerio","year":"2004","journal-title":"Diabetes Care"},{"issue":"4","key":"2025091920041512900_luaf145-B8","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1067\/mpd.2002.127089","article-title":"Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases","volume":"141","author":"Metz","year":"2002","journal-title":"J Pediatr"},{"issue":"4","key":"2025091920041512900_luaf145-B9","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1530\/EJE-20-1030","article-title":"Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy","volume":"184","author":"Bonfanti","year":"2021","journal-title":"Eur J Endocrinol"},{"issue":"11","key":"2025091920041512900_luaf145-B10","doi-asserted-by":"crossref","first-page":"2347","DOI":"10.1007\/s00125-010-1853-2","article-title":"Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes","volume":"53","author":"Docherty","year":"2010","journal-title":"Diabetologia"},{"issue":"6","key":"2025091920041512900_luaf145-B11","doi-asserted-by":"crossref","first-page":"1520","DOI":"10.1016\/j.jpeds.2015.02.045","article-title":"Re-evaluating \u201ctransitional neonatal hypoglycemia\u201d: mechanism and implications for management","volume":"166","author":"Stanley","year":"2015","journal-title":"J Pediatr"},{"issue":"9","key":"2025091920041512900_luaf145-B12","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1203\/00006450-198509000-00001","article-title":"Insulin as a growth factor","volume":"19","author":"Hill","year":"1985","journal-title":"Pediatr Res"},{"issue":"10","key":"2025091920041512900_luaf145-B13","doi-asserted-by":"crossref","first-page":"e147","DOI":"10.2337\/dc17-1145","article-title":"Diabetes presentation in infancy: high risk of diabetic ketoacidosis","volume":"40","author":"Letourneau","year":"2017","journal-title":"Diabetes Care"},{"issue":"4","key":"2025091920041512900_luaf145-B14","first-page":"2492","article-title":"A novel mitochondrial DNA deletion in a patient with Pearson syndrome and neonatal diabetes mellitus provides insight into disease etiology, severity and progression","volume":"27","author":"Chen","year":"2016","journal-title":"Mitochondrial DNA A DNA Mapp Seq Anal"},{"issue":"1","key":"2025091920041512900_luaf145-B15","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.ymgme.2012.01.018","article-title":"Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency","volume":"106","author":"Williams","year":"2012","journal-title":"Mol Genet Metab"},{"key":"2025091920041512900_luaf145-B16","first-page":"57","article-title":"Mitochondrial complex III deficiency with ketoacidosis and hyperglycemia mimicking neonatal diabetes","volume":"31","author":"Anastasio","year":"2017","journal-title":"JIMD Rep"},{"key":"2025091920041512900_luaf145-B17","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.pediatrneurol.2018.07.008","article-title":"Response to early coenzyme Q10 supplementation is not sustained in CoQ10 deficiency caused by CoQ2 mutation","volume":"88","author":"Eroglu","year":"2018","journal-title":"Pediatr Neurol"},{"issue":"8","key":"2025091920041512900_luaf145-B18","doi-asserted-by":"crossref","first-page":"2466","DOI":"10.1002\/ajmg.a.62873","article-title":"Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome","volume":"188","author":"Yagasaki","year":"2022","journal-title":"Am J Med Genet A"},{"issue":"4","key":"2025091920041512900_luaf145-B19","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.pediatrneurol.2008.07.013","article-title":"Leigh and leigh-like syndrome in children and adults","volume":"39","author":"Finsterer","year":"2008","journal-title":"Pediatr Neurol"},{"issue":"5-6","key":"2025091920041512900_luaf145-B20","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1016\/j.mito.2008.05.003","article-title":"Neuroimaging of mitochondrial disease","volume":"8","author":"Saneto","year":"2008","journal-title":"Mitochondrion"},{"issue":"3","key":"2025091920041512900_luaf145-B21","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1001\/jamapediatrics.2016.4151","article-title":"Clinical characteristics, risk factors, and outcomes associated with neonatal hemorrhagic stroke: a population-based case-control study","volume":"171","author":"Cole","year":"2017","journal-title":"JAMA Pediatr"},{"issue":"8","key":"2025091920041512900_luaf145-B22","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1177\/0883073817703503","article-title":"Thalamic hemorrhagic stroke in the term newborn: a specific neonatal syndrome with non-uniform outcome","volume":"32","author":"Merlini","year":"2017","journal-title":"J Child Neurol"},{"issue":"3","key":"2025091920041512900_luaf145-B23","doi-asserted-by":"crossref","first-page":"e693","DOI":"10.1542\/peds.2010-1035","article-title":"Neonatal cerebral sinovenous thrombosis: sifting the evidence for a diagnostic plan and treatment strategy","volume":"126","author":"Yang","year":"2010","journal-title":"Pediatrics"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/3\/10\/luaf145\/64307440\/luaf145.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/3\/10\/luaf145\/64307440\/luaf145.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T00:04:27Z","timestamp":1758326667000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luaf145\/8257394"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,19]]},"references-count":23,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2025,8,19]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luaf145","relation":{},"ISSN":["2755-1520"],"issn-type":[{"value":"2755-1520","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,10]]},"published":{"date-parts":[[2025,8,19]]},"article-number":"luaf145"}}