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Case Reports
Journal Article
PDX1 Gene Mutation with Permanent Neonatal Diabetes Mellitus with Annular Pancreas, Duodenal Atresia, Hypoplastic Gall Bladder and Exocrine Pancreatic Insufficiency.
Indian Pediatrics 2017 December 16
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.
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.
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