Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation

Prolonged hyperinsulinemic hypoglycemia in infancy can result in developmental sequelae. A mutation in the paired box-6 gene ( ) has been reported to cause disorders in oculogenesis and neurogenesis. A limited number of cases of diabetes mellitus in adults with a mutation suggest that the gene also plays a role in glucose homeostasis. The present case report describes a boy with a mutation, born with anophthalmia, who underwent hypoglycemic seizures starting at 5 months old, and showed a prediabetic condition at 60 months. This patient provides novel evidence that connects to glucose homeostasis and highlights that life-threatening hypoglycemia or early onset glucose intolerance may be encountered. The role of in glucose metabolism and insulin regulation should be further investigated.