P-229: When neonatal hypoglycemia evolves into permanent neonatal diabetes: a case of ins gene mutation diagnosed at one year of life
L F Palacios Porta, M Farias, L Rudi, C Mougel, V Modica, G Quevedo, P SosaAbstract
Introduction
Neonatal diabetes is a rare condition in the pediatric population and should be suspected in the neonatal period up to 6 months of age, with a later-onset form between 9 and 12 months.
Objectives
To highlight the importance of considering neonatal diabetes in infants diagnosed with diabetes within the first year of life.
Methods
Female infant, born at 36 weeks, small for gestational age, birth weight 2,578 g, APGAR 8/10. Healthy parents. At 2 hours of life, she presented asymptomatic hypoglycemia (36 mg/dL) with inappropriately detectable insulin levels. She developed recurrent hypoglycemia (23 mg/dL), negative ketonemia, and normal metabolic studies. She required 32 days of hospitalization and was managed with progressive parenteral, enteral, and oral glucose. Hypoglycemia resolved by 4 months. Discharge diagnosis: transient hyperinsulinism. Near one year of age, intermittent hyperglycemia was detected.
Laboratory results
glucose 116 mg/dL, HbA1c 7.2%, low C-peptide, negative GAD antibodies. OGTT showed fasting glucose 119 mg/dL and 120-minute glucose 225 mg/dL. She presented with capillary glucose of 400 mg/dL and was hospitalized. Diagnosis: diabetes mellitus. Insulin therapy was initiated. At 13 months, treatment included insulin glargine 0.2 U/kg/day with rapid-acting insulin corrections. Follow-up showed mild hypoglycemia and hyperglycemia, with normal growth and development. HbA1c ranged between 7.8–8.2%. Molecular testing was initially rejected due to age but later accepted. Current management: intensified insulin therapy with good adherence, adequate growth, HbA1c 7.2%.
Results
Final diagnosis: permanent neonatal diabetes due to INS gene mutation, de novo. Implications: 50% risk of transmission to offspring.
Conclusions
Diabetes diagnosed within the first year of life requires evaluation for neonatal diabetes. Genetic diagnosis allows appropriate counseling and, in selected cases, alternative treatment; however, insulin remains the therapy of choice in INS mutations.