Secondary hypoglycemia and congenital hyperinsulinism: importance of early diagnosis and propedeutics

Abstract

Introduction: Hypoglycemia secondary to hyperinsulinism is a genetic clinical condition of insulin secretion disorder. It is the most common cause of hypoglycemia with low ketone body production in neonates and in the first year of life, and the leading cause of persistent hyperinsulinism in children under one year, associated with a significant risk of permanent brain damage. Objective: To report a case of neonatal hypoglycemia secondary to congenital hyperinsulinism in order to demonstrate the importance of early diagnosis and correct therapy. Case Description: Newborn, female, full-term (37 weeks and 1 day) presenting with frequent episodes of hypoglycaemia. Intravenous glucose infusion without significant improvement. Serum dosages of glucose, cortisol, growth hormone, insulin and venous blood gas analysis were performed and urine collected to study urinary findings and sediments, and the diagnosis of secondary hypoglycemia was confirmed. After the results of the exams, the diagnostic hypothesis of hypoglycemia secondary to hyperinsulinism was confirmed, and diazoxide and hydrochlorothiazide therapy was initiated. Discussion: Hypoglycemia secondary to congenital hyperinsulinism is a pathology difficult to recognize because signs and symptoms are often nonspecific. Thus, attention to the newborn is essential due to the serious consequences that such issue can generate, such as brain damage. The diagnosis is made based on clinical evaluation and laboratory findings showing inappropriate insulin secretion. Regarding treatment, the main drug used is hydrochlorothiazide-associated diazoxide. In some cases, the use of octreotide is required.