PDX1 Gene Mutation with Permanent Neonatal Diabetes Mellitus with Annular Pancreas, Duodenal Atresia, Hypoplastic Gall Bladder and Exocrine Pancreatic Insufficiency.

Background: Neonatal diabetes mellitus is a rare condition.

Case Characteristics: A small for gestational age male, presented with neonatal onset diabetes mellitus, duodenal atresia, annular pancreas and gall bladder hypoplasia.

Observation: Observation: A novel homozygous mutation p.K163R (c.488A>G) in the PDX1 gene was found. Parents were heterozygous for the same.

Message: This case highlights the importance of establishing the genetic diagnosis in all cases of neonatal diabetes mellitus.