Abstract Ref Number = APCP843
Poster Presentation
Stephanie Amanda Hatibie,Novina Andriana,Bambang Tridjaja,Aman Pulungan,Siska Mayasari Lubis RSCM FKUI RSCMFKUI UKK Endokrinologi
Background : Neonatal diabetes mellitus (NDM) is a monogenic, non-autoimmune DM with onset within 6 months of age. NDM accounts for 1-4% DM cases in pediatric with incidence of 1: 100.000-400.000 live birth world widely. The genetic etiology causing pancreatic malformation, or faulty insulin synthesis and secretion. Delayed diagnostic due to the lack of information can caused severe complications like life-threatening diabetic ketoacidosis. Thus, genetic testing is suggested to be done in spite of its cost burden. We present this case to enriched knowledge that DM can occur in infant period. By genetic diagnosis, we can give appropriate management to pursue optimal growth and development of the patient. Case Presentation Summary : A 4 –month-old baby boy was diagnosed as NDM and referred to Endocrine Polyclinic with history of ketoacidosis diabeticum (KAD). He was born aterm, weight appropriate for gestational age. At 3 months of age he had two episodes of hyperglycemia which was perceived as infection process. At 4 months of age, his pancreas auto-antibodies were negative with low C-peptide level (<1ng/ml). Sulfonylurea therapy (SU) was initiated since NDM with defect in K-ATP channel respon with SU. After 1.5 months therapy, SU was stopped because there were no significant effect on glycemic control and genetic testing was negative for 3 main genes (KCNJ11, ABCC8, and INS). The further genetic analysis revealed a defect in EIF2AK3 gene related to Wolcott-Rallison syndrome (permanent NDM, skeletal dysplasia, liver dysfunction). Patient is planned to switch from basal-bolus to continous insulin pump therapy. Learning Points/Discussion : We present a case of infant with history of hyperglycemia and KAD at less than 6 months of age. Laboratory and genetic analysis suggesting a permanent NDM related to Wolcott-Rallison syndrome. This case emphasize the importance of putting NDM as a differential diagnosis of hyperglycemia in infants and encourage genetic testing.
Keywords: neonatal diabetes mellitus genetic
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