Complete Pancreatic Agenesis Presenting With Neonatal Diabetes and Exocrine Insufficiency: A Case Report

Pancreatic agenesis is one of the most challenging genetic conditions to manage. This case report describes a male infant with complete pancreatic agenesis due to a homozygous ZNF808 mutation, presenting with permanent neonatal diabetes mellitus (PNDM) and exocrine pancreatic insufficiency (EPI). Born at 38 weeks with severe intrauterine growth restriction (IUGR), the patient developed insulin-dependent diabetes by three months of age, with undetectable C-peptide levels and absent pancreatic tissue on imaging. His clinical course was complicated by influenza-associated acute respiratory distress syndrome (ARDS), resulting in hemorrhagic stroke and post-stroke epilepsy, along with chronic lung disease and global developmental delay. Management required a multidisciplinary approach, including basal-bolus insulin therapy, pancreatic enzyme replacement, nutritional optimization, antiepileptic drugs, and respiratory support. This case underscores the severe complications associated with this condition and illustrates the critical need for a comprehensive management strategy.