ABCC8 Mutation Causing Permanent Neonatal Diabetes Mellitus in Early Infancy: A Case Report

Abstract

Introduction

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.

Case Presentation

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.

Discussion

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.

Conclusion

Recognizing NDM in infants with unexplained hyperglycemia is important for timely, targeted treatment. Individualized care is possible in constrained settings, offering improved overall outcome.

Keywords

neonatal diabetes mellitus - ABCC8 mutation - sulfonylurea - genetic diagnosis - low-resource settings - case report

Author's Contributions

L.M.M. contributed to the conceptualization, original draft writing, resource acquisition, and data curation. M.G.T. was involved in the conceptualization and original draft writing. H.K.T. contributed to manuscript review and editing, as well as providing resources. M.A.N. participated in reviewing and editing the manuscript and data curation. L.M.D. contributed to the review and editing of the manuscript. A.B.A. was also involved in the manuscript's review and editing.

Ethical Approval

Our institution does not require ethical approval for reporting individual cases or case series.

Consent to Participate

Written Informed consent was obtained from the patient's parents.

Publication History

Received: 24 May 2025

Accepted: 24 July 2025

Article published online:
12 August 2025

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