Pediatria e Terapêutica
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Diazoxide Unresponsive Congenital Hyperinsulinism in Neonates: A Case Report

Gayathiri Govindaraju, Srinivas Ramakrishnan*, Balakrishnan Rajaiah

Glucose is the prime energy source for brain and other vital organs of the body. Congenital hyperinsulinisms occur due to dysregulated insulin secretion. Persistent hypoglycemia can cause irreversible damage to neurons. Patients with Hyperinsulinemic Hypoglycemia (HH) present in first 24-48 hours of life in newborn period with non-specific symptoms of hypoglycemia as lethargy, poor feeding, high pitched and irritable cry, apnea, jitteriness, exaggerated reflexes, seizure and coma. Cornerstone of clinical management involves early diagnosis and appropriate therapy for all forms of HH. Analysis of blood sample, collected during hypoglycemia for intermediary metabolites and hormones is critical for diagnosis and management of hypoglycemia in neonates. Managing patients with persistent and prolonged hypoglycemia will require frequent blood glucose monitoring and central venous access for administration of high concentrated dextrose infusions. Treatment options include medical and surgical or sometimes combination therapy based on underlying etiology for hypoglycemia. However, management of medically unresponsive hyperinsulinemic hypoglycemia remains a challenge. Octreotide (short acting somatostatin analogue) and sirolimus (Mammalian Target of Rapamycin (MTOR) inhibitor) appear more promising in neonates with diazoxide unresponsive hypoglycemia. Neurological development should be closely followed in evaluating long term outcome of patients with HH. Septic markers and metabolic screen were negative and genetic studies revealed ABCC8 mutation. Baby was treated with oral diazoxide, subcutaneous octreotide and oral sirolimus to maintain glycemic status. This case highlights the importance of monitoring glucose in infants prone to hypoglycemia for appropriate management to prevent the developmental delay.