Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation

Abstract

Prolonged hyperinsulinemic hypoglycemia in infancy can result in developmental sequelae. A mutation in the paired box-6 gene (PAX6) has been reported to cause disorders in oculogenesis and neurogenesis. A limited number of cases of diabetes mellitus in adults with a PAX6 mutation suggest that the gene also plays a role in glucose homeostasis. The present case report describes a boy with a PAX6 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 PAX6 to glucose homeostasis and highlights that life-threatening hypoglycemia or early onset glucose intolerance may be encountered. The role of PAX6 in glucose metabolism and insulin regulation should be further investigated.

Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches

“…An interesting case report described a boy with a PAX6 mutation, born with anophthalmia, who experienced hypoglycemic seizures starting at 5 months old due to hyperinsulinemia hypoglycemia, and showed a prediabetic condition at 60 months. This patient provides new evidence that connects PAX6 to glucose homeostasis and highlights that life-threatening hypoglycemia or early onset glucose intolerance may be encountered, albeit exceptionally ( Kim et al, 2021 ). This may be related to a major ER stress leading to increased insulin secretion and then to insulin cell alteration.…”