ESPE Abstracts

Hyperinsulinemic hypoglycemia (HH) is common in newborns. If hypoglycemia occurs after the first 48 hours following birth, it may be a sign of an underlying condition. We present the case of a baby girl born at 38 weeks of pregnancy, with good adaptation to extrauterine life and blood glucose of 60 mg/dl in the first days of birth. Approximately 2 days after discharge, she was addressed at the emergency unit because of food refusal for approximately 30 hours, with a blood sugar level of 17 mg/dl, presenting a hypoglycemic convulsive crisis. Despite the administration of 10% glucose, hypoglycemia is maintained, requiring a switch to 12,5% glucose. C-peptide and insulin were dosed at a blood glucose value of 41 mg/dl, the results showing normal levels, 15,28 UI/ml for C-peptide and 2,2 ng/ml for insulin, abnormally associated with the hypoglycemic status. Low serum cortisol levels were registered with undetectable ACTH. Thus, it is raised the suspicion of congenital hyperinsulinism and pituitary insufficiency on the corticotropic line, GH having a normal value with a TSH slightly increased. A Medtronic Guardian Connect 4 continuous glucose monitoring system was cutaneously attached, showing hypoglycemia in 15% of the time with more than 4% severe hypoglycemia. Treatment with diazoxide and hydrocortisone was initiated. Abdominal MRI was performed, describing normal pancreatic and duodenal features without any identified tumor. Craniocerebral CT revealed ischemic areas at the occipital and posterior parietal levels, hypocapturing nodule of 3/3 mm in the anteroinferior segment of the pituitary gland. The INVITAE genetic test identified the presence of the ABCC8 gene – autosomal recessive, confirming the diagnosis of focal hyperinsulinism. Her father was also tested with a positive result for gene ABCC8 as a carrier. At the maximum dose of diazoxide associated with hydrochlorothiazide, the patient maintains hypoglycemia. Thus, we decided to change the therapy with Sandostatin with a progressive increase of the dose up to 30 g 4 times a day. A reduced number of hypoglycemic episodes was registered. In Romania, PET CT/MRI cannot be performed, as it is necessary to contact a center abroad in order to obtain a complete diagnosis which might suggest surgical intervention. Currently, the patient is undergoing treatment with Sandostatin 30 microg 4 times a day for hyperinsulinism, Hydrocortisone 3.5 mg a day in 3 doses for pituitary insufficiency on the corticotropic line and phenobarbital 30 mg a day for seizure prophylaxis.