Background: Congenital hyperinsulinism (CHI) is a disorder causing persistent hypoglycemia due to oversecretion of insulin. Diazoxide, a KATP channel opener in pancreatic beta cells is the treatment of choice, however, the glucose level should be monitored carefully. We report here a case of an infant girl with CHI who was complicated by diabetic ketoacidosis (DKA) during acute febrile illness.
Case Report: A 15month-old girl visited emergency room with recurrent seizures. She had a history of recurrent afebrile seizures since 4 months of age. She had no specific birth history or family history. On physical examination, her weight was 10.5kg (50-75 percentile) and height was 78.5cm (50-75 percentile). She also showed developmental delay, however, her tandem mass screening test, thyroid function test, and brain MRI were all normal. Hypoglycemia (serum glucose < 30 mg/dL) was noted, but serum insulin (8.36 µU/mL) and C-peptide (1.97 ng/mL) levels were inappropriately high. On glucagon stimulation test, blood glucose level increased from 38 mg/dL to 76 mg/dL, and serum insulin level was 7.6 and 4.4 µU/mL before and after glucagon stimulation, respectively. Abdominal ultrasonography was normal. Genetic study including ABCC8, KCNJ11, GLUD1, HNF4A, GCK, HADH, and UCP2 was all negative. Diazoxide (3mg/kg/day) was started under the diagnosis of CHI, and her self-monitored blood glucose level was well-controlled on follow up visit after discharge. However, after 4 weeks, she visited emergency center again with 2 days of fever and hyperglycemia. The serum glucose was 398 mg/dL with pH 7.293, HCO3 7.9 mmol/L, and positive serum ketone, which was consistent with DKA. Continuous intravenous insulin infusion was initiated with the rate of 0.05 IU/hr/kg. After recovery from DKA, her glucose level was well-controlled with the same dosage of diazoxide. She is 24 months old at present, and her developmental milestone has also been dramatically improved after diazoxide treatment.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology