Pancreatic Hypoplasia and Neonatal Diabetes: Case Report and Management Insights

Abstract

Neonatal diabetes mellitus (NDM) presents a diagnostic challenge due to its diverse phenotypic and genetic manifestations. We report a case of a term, small-for-gestational-age female neonate with pancreatic hypoplasia exhibiting persistent hyperglycaemia despite aggressive insulin therapy. The clinical course was complicated by sepsis and feed intolerance, necessitating prolonged parenteral nutrition. Genetic testing via targeted next-generation sequencing did not reveal any mutations, highlighting current limitations in genetic diagnostics for NDM. Despite efforts, the patient succumbed to infection at 10 weeks of age. This case underscores the complexities of managing NDM and emphasizes the need for a multidisciplinary approach to achieve tight glycaemic control, provide nutritional support, and address potential exocrine pancreatic involvement to optimize outcomes in neonatal diabetes.