Background: Persistent hyperinsulinemic hypoglycemia of infancy is the most common cause of persistent hypoglycemia in neonates and infants. It is a genetic disorder with both familial and sporadic forms. It is a clinically and genetically heterogeneous disorder, which ranges from life-threatening hypoglycemia presenting on the first day of life to only mildly symptomatic hypoglycemia in a child or adolescent that may be difficult to identify. The treatment of persistent hyperinsulinemic hypoglycemia is still a great challenge because the response to medical and surgical therapy varies.
Case: The patient presented here is a male infant who has preterm birth at 36 weeks 1 day and the birth weight of 4200g. After birth, he suffered from respiratory failure, neonatal infections and prolonged hypoglycemia accompanied by recurring seizures. The lowest plasma glucose concentration is 0,14 mmol/l. The plasma insulin concentrations measured twice as low plasma glucose was inappropriately elevated with 28 µUI/ml and 10.2 µUI/ml. Other laboratory tests in normal range. The diameters of head, body and tail of the pancreas are 9.6 mm, 3.4 mm and 4.8 mm one by one with several cysts on abdominal ultrasound. CT scan showed fatty liver and subcutaneous diffuse lipohypertrophy. Homozygous ABCC8 mutation (NM_000352.4 (ABCC8): c.3400-1G> A) was found. She was treated with diazoxide or maximum dose of somatostatin combined with nifedipine but did not respond. Because of his dependence on high-level intravenous infusion (> 10 mg/kg per minute), a near total (90%) pancrectomy was performed. The pancreatic pathology comfirmed congenital anomalies nesidioblastosis. After pancreatic resection, his plasma glucose condition improved significantly. So, he was discontinued medical therapy and discharged.
Conclusion: The patients who have homozygous mutations in ABCC8 gene often fail to respond to pharmacological therapy and require surgical therapy. Our patient has had a good response to a near total pancreatectomy. However, 18F-L-DOPA PET was not performed before surgery. This limits the ability to investigate local or diffuse pancreatic lesion and suggestion for removing partial or near total pancreatic tissue.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology