AACE2021-A-1032: Practical Approach for Early Diagnosis of Neonatal Hypoglycemia

Abstract

Neonatal hypoglycemia is one of the most common neonatal clinical problems. It is an emergency condition that requires immediate intervention. There are various etiologies of hypoglycemia and it is extremely important to diagnose the cause of hypoglycemia in a timely manner for proper early management. A practical approach for diagnosis of neonatal hypoglycemia in 2 cases, for which diagnosis was achieved through collecting the relevant clinical data and performing the appropriate laboratory investigations. Case 1: A 2-week-old female infant of refugee parents, presented with history of recurrent seizures since 3 days old. She was found to have hypoglycemia and was managed by frequent feeds, till she was referred to our center. Case 2: A 13-day-old female infant in the neonatal intensive care unit , had seizure and was found to have hypoglycemia. She was admitted since birth to NICU as neonatal jaundice with Rh isoimmunization, for which she received intravenous immunoglobulin and exchange transfusion. Had seizure at age 13 days of life, and was found to have hypoglycemia. Results of critical sample showed hyperinsulinism in case 1 and hypopituitarism in case 2. Genotyping for case 1 showed homozygous splicing mutation in the ABCC8 gene resulting in congenital hyperinsulinemic channelopathy. Pituitary MRI for case 2 showed ectopic posterior and hypoplastic anterior pituitary gland. Physicians should implement the accurate approach for diagnosis of causes of neonatal hypoglycemia in order to start the appropriate management as soon as possible, through integrating full history, complete physical exam and appropriate investigations.