This Case Study describes an infant diagnosed as having focal congenital hyperinsulinism associated with septo-optic dysplasia, highlighting the importance of maintaining a high degree of suspicion in all infants who are investigated for chronic hypoglycemia. The authors report an as yet unidentified genetic etiology that may account for both focal congenital hyperinsulinism and septo-optic dysplasia.
- Raja Padidela
- Ritika R. Kapoor
- Khalid Hussain
