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Open Access 01-12-2017 | Case report

Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report

Authors: Robert Hilbrands, Kathelijn Keymolen, Alex Michotte, Miriam Marichal, Filip Cools, Anieta Goossens, Peter In’t Veld, Jean De Schepper, Andrew Hattersley, Harry Heimberg

Published in: BMC Medical Genetics | Issue 1/2017

Abstract

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.

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Title: Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report
Authors: Robert Hilbrands
Kathelijn Keymolen
Alex Michotte
Miriam Marichal
Filip Cools
Anieta Goossens
Peter In’t Veld
Jean De Schepper
Andrew Hattersley
Harry Heimberg
Publication date: 01-12-2017
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2017
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/s12881-017-0419-2

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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