Purpose of review: Congenital hyperinsulinism (CHI) is a multifaceted disease and continues to be the most common cause of persistent hypoglycemia in infants. The purpose of the review is to highlight important recent developments regarding CHI. Recent findings: Several recent studies have highlighted the advances in medical genetics, imaging techniques, histological variety, and surgical decision making regarding CHI. The advancements have resulted in the ability to often distinguish between diffuse and focal disease, thus allowing a more focused medical and surgical approach to the patient. When genetic information is combined with advanced imaging and intraoperative histological analysis, surgical results have improved. Despite medical and surgical advancements, recent studies also reveal the need for better medical options for patients and that aggressive surgery may lead to the onset of diabetes. Summary: Current advances have improved the overall care of the patient with CHI, although there are still improvements to be achieved. The ability to apply these advancements is best accomplished with an experienced team consisting of geneticists, radiologists, endocrinologists, pathologists, and surgeons. Utilizing a team approach results in a complete evaluation and allows a customized care plan for each patient.
- Congenital hyperinsulinism
- Fluorine-18-L-dihydroxyphenylalanine PET/computed tomography