{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,15]],"date-time":"2025-08-15T02:24:14Z","timestamp":1755224654592,"version":"3.43.0"},"reference-count":13,"publisher":"Georg Thieme Verlag KG","issue":"03","license":[{"start":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T00:00:00Z","timestamp":1754956800000},"content-version":"vor","delay-in-days":42,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["AJP Rep"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neonatal diabetes mellitus (NDM) is a rare monogenic form of diabetes presenting within the first 6 months of life. It can be transient or permanent; early diagnosis is essential to improve outcomes.<\/jats:p><jats:p>A 45-day-old male infant presented with fever, dehydration, and marked hyperglycemia. Initially misdiagnosed as meningitis, further evaluation revealed diabetic ketoacidosis, confirmed by elevated blood glucose and +4 urine ketones. He was stabilized with IV fluids and insulin, then transitioned to subcutaneous insulin. Persistent hyperglycemia and patient's age raised suspicion for NDM, warranting genetic testing, which identified a heterozygous pathogenic ABCC8 missense variant. Oral sulfonylurea was initiated using a locally compounded suspension due to limited resources. Insulin was successfully tapered, and euglycemia was achieved on sulfonylurea monotherapy.<\/jats:p><jats:p>Highlighted here is the importance of genetic testing in suspected NDM; it directly guides management. Shifting from insulin to oral agents improves glycemic control and long-term prognosis. Managing NDM in low-resource settings requires adaptive, multidisciplinary approaches. Ideally, patients should be followed into adolescence, focusing on neurodevelopment, as some variants may lead to neurological complications.<\/jats:p><jats:p>Recognizing NDM in infants with unexplained hyperglycemia is important for timely, targeted treatment. Individualized care is possible in constrained settings, offering improved overall outcome.<\/jats:p>","DOI":"10.1055\/a-2667-6711","type":"journal-article","created":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T23:02:40Z","timestamp":1755039760000},"page":"e124-e128","source":"Crossref","is-referenced-by-count":0,"title":["ABCC8 Mutation Causing Permanent Neonatal Diabetes Mellitus in Early Infancy: A Case Report"],"prefix":"10.1055","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-4544-4414","authenticated-orcid":false,"given":"Leul M.","family":"Manyazewal","sequence":"additional","affiliation":[{"name":"School of Medicine, Department of Pediatrics and Child Health, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mikiyas G.","family":"Teferi","sequence":"additional","affiliation":[{"name":"School of Medicine, Department of Pediatrics and Child Health, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helina K.","family":"Teklehaimanot","sequence":"additional","affiliation":[{"name":"School of Medicine, Department of Pediatrics and Child Health, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael A.","family":"Negussie","sequence":"additional","affiliation":[{"name":"School of Medicine, Department of Pediatrics and Child Health, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leleul M.","family":"Demeke","sequence":"additional","affiliation":[{"name":"School of Medicine, Department of Pediatrics and Child Health, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Absira B.","family":"Abate","sequence":"additional","affiliation":[{"name":"School of Medicine, Department of Pediatrics and Child Health, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2025,8,12]]},"reference":[{"issue":"03","key":"ref1","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/s11154-010-9151-3","article-title":"Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene","volume":"11","author":"J St\u00f8y","year":"2010","journal-title":"Rev Endocr Metab Disord"},{"key":"ref2","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":"E De 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diabetes due to Kir6.2 mutations","volume":"355","author":"E R Pearson","year":"2006","journal-title":"N Engl J Med"},{"issue":"08","key":"ref13","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1016\/S2213-8587(18)30106-2","article-title":"Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study","volume":"6","author":"P Bowman","year":"2018","journal-title":"Lancet Diabetes Endocrinol"}],"container-title":["American Journal of Perinatology 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