Glucose and insulin: Case report and review of congenital hyperinsulinism
DOI:
https://doi.org/10.33448/rsd-v15i1.50473Keywords:
Insulin, Neonatal hypoglycaemia, Congenital hyperinsulinism, Pediatrics.Abstract
Introduction: Hypoglycaemia is a condition in which plasma glucose concentration falls below normal levels and can have transient or persistent causes. Among the persistent causes, congenital hyperinsulinism (CHI) stands out, a rare endocrine disorder resulting from genetic mutations, with an incidence of approximately 1:25,000-50,000 live births and a high risk of sudden death. Symptoms include hypoglycaemia in association with laboratory abnormalities such as elevated C-peptides, high insulin, negative ketonemia and reduced fatty acids in association with specific genetic mutations. Treatment includes pharmacological approaches that may escalate to surgical approaches. Objective: To report a rare case of congenital hyperinsulinism, describing in detail its diagnosis, treatment, and consequences associated with the disease. Methods: This is a descriptive, retrospective observational study of a single individual (n=1) without statistical analysis, but with a review of the literature. Conclusion: The report will highlight the importance of early recognition, laboratory evaluation, and therapeutic approach, contributing to knowledge about this rare condition.
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