Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report
De Schepper, J
BMC Medical Genetics
© The Author(s). 2017. Open Access. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
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.
Financial support was from the Universitaire Stichting van België (RH), VUB Research Council (SRP35) (HH) and the Fund for Scientific Research Flanders (FWO) (G034613N) (HH). ATH is a Wellcome Trust Senior Investigator and an NIHR Senior Investigator.
This is the author accepted manuscript. The final version is available from BioMed Central via the DOI in this record.
Vol. 18, article 57
Place of publication