Endocrine Abstracts

Introduction: Congenital hyperinsulinism is the most common cause for recurrent hypoglycaemia in neonates and infants. Uncontrolled hypoglycaemia leads to seizures and long-term cerebral damage. Herein, we report a case of congenital hyperinsulinism (persistent hyperinsulinaemic hypoglycaemia of infancy, nesidioblastosis) and review of the relevant literature regarding on the aetiology, pathogenesis, clinical and pathological features, diagnosis and treatment of this disorder.

Case report: A term male newborn with a birth weight of 2900 g, delivered vaginally without complications, presented with tonic-clonic seizures and hypoglycaemia of 0.5 mmol/l (normal range 1.7–2.8 mmol/l) on the second day of life. Intravenous infusion of 12.5% glucose solutions at a rate of 10–17 mg/kg and dexamethazone 0.8 mg/kg were given to maintain a stable blood sugar level. The plasma insulin level was 32.3 μU/ml (normal values 2.6–24.9 μU/ml) and blood sugar level was between 0.5 and 7.2 mmol/l on day 30 of his life. These results suggest nesidioblastosis, or persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI). To confirm the diagnosis, the diagnostic laparoscopy was performed. During the surgery, enlarged hyperplastic Langergance islets were visualised, patient was subjected to a pancreatectomy with resection of 50% pancreatic gland. Pathological analysis was consistent with insulinoma.

Conclusions and follow up: Congenital hyperplasia and dysplasia of pancreatic islet cells and a focal adenomatous hyperplasia was diagnosed by pathological analysis of surgical material, as well as clinical presentation. At present time, the patient is 3 years old, maintains euglycaemia with fractionated feeding and has a normal psychomotor development. This is the first case of diagnosis and successful treatment of congenital hyperinsulinism in Armenia.