Background: Pancreatic agenesis is an extremely rare cause of neonatal diabetes mellitus and has enabled the discovery of several key transcription factors essential for normal pancreas and beta cell development.
Case presentation: We report a case of a Caucasian female with complete pancreatic agenesis occurring together with semilobar holoprosencephaly (HPE), a more common brain developmental disorder. Clinical findings were later
confirmed by autopsy, which also identified agenesis of the gallbladder. Although the sequences of a selected set of genes related to pancreas agenesis or HPE were wild-type, the patient’s phenotype suggests a genetic defect that emerges early in embryonic development of brain, gallbladder and pancreas.
Conclusions: Developmental defects of the pancreas and brain can occur together. Identifying the genetic defect may identify a novel key regulator in beta cell development.
Original languageEnglish
Article number57
Pages (from-to)57
Number of pages6
JournalBMC Medical Genetics
Issue number1
Publication statusPublished - 19 May 2017


  • Brain/abnormalities
  • Congenital Abnormalities/diagnosis
  • Developmental Disabilities/diagnosis
  • European Continental Ancestry Group
  • Female
  • Gallbladder/abnormalities
  • Holoprosencephaly/diagnosis
  • Humans
  • Infant, Newborn
  • Infant, Newborn, Diseases/diagnosis
  • Pancreas/abnormalities
  • Sequence Analysis, DNA


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