IMPE Abstracts

Congenital hyperinsulinism is one of the most common causes of severe hypoglycemia in infants. Case 1. A 9-year-old girl had her first hypoglycemic seizure at the age of 65 days. Her blood glucose, insulin, C-peptide, cortisol, and ammonia levels were 42 mg/dL, 37.14U/mL, 4.20 ng/mL, 21.85 mg/dL and 54 mg/dL, respectively. Diazoxide was started and she was referred to our Pediatric Endocrinology Clinic at 9 months. Genetic investigation, including whole exome sequencing, did not reveal pathogenic mutations. She grew up well and showed normal development. 18F-DOPA PET-CT performed to find the pathologic range revealed diffusely increased uptake from head to tail of the pancreas. Case 2. A 25-month-old boy was diagnosed with epilepsy at the age of 6 months and antiseizure medication started outside. Hypoglycemic seizures were first identified at 11 months of age when admitted to our Pediatric Endocrinology Clinic. The levels of blood glucose, insulin, C-peptide, cortisol and ammonia were 35 mg/dL, U/mL, 2.9 ng/mL, 18.5 mg/dL and 40.4 mg/dL, respectively. Diazoxide has been added to antiseizure medication. He had global developmental delay. Genetic evaluation did not reveal any specific abnormalities. 18F-DOPA PET-CT showed a widespread uptake in pancreatic head-to-tail. Here, we report two cases of diffuse forms of diazoxide-responsive congenital hyperinsulinism with different clinical manifestations.