An Interesting Case of Sulphonylurea-Responsive Permanent Neonatal Diabetes Mellitus With Potassium Channel Mutation

We present a case report of an infant diagnosed with a pathogenic de novo variant in KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11), associated with both transient and permanent neonatal diabetes. This patient is one of the earliest diagnosed and genetically confirmed patients with neonatal diabetes. Early detection is key, and this case report emphasizes the need for early consideration of rapid whole-genome sequencing as an option for diagnosis to significantly improve patient outcomes.