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Case Reports
. 2017 May 19;18(1):57.
doi: 10.1186/s12881-017-0419-2.

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

Robert Hilbrands  1   2 , Kathelijn Keymolen  3 , Alex Michotte  4 , Miriam Marichal  4 , Filip Cools  5 , Anieta Goossens  4 , Peter In't Veld  1 , Jean De Schepper  5 , Andrew Hattersley  6 , Harry Heimberg  7
Affiliations
Case Reports

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

Robert Hilbrands et al. BMC Med Genet. .

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.

Keywords: Holoprosencephaly; Pancreas agenesis; Premanent neonatal diabetes mellitus.

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Figures

Fig. 1
Fig. 1
a No pancreatic tissue could be identified on the orthotopic location along the splenic vessels (white arrow) nor gall bladder (dashed arrow). b View at het choledocus (yellow arrows). No ductus cysticus nor gall bladder. The choledocus ends in the duodenum (D) via Vater’s Ampulla (green arrow). Wirsung duct an ventral pancreas are absent. L: Liver, LH: liver hilum, S:spleen
Fig. 2
Fig. 2
a Development of the cerebellum appears normal. b Both hemispheres are fused up to the gyrus centralis (arrow) with presence of polymicrogyria. c Fusion of the anterior brain is encircled. Bulbus olfactorius is bilaterally absent (arrows) while the chiasma opticum is normal (dashed arrow). d Sequential coronal sections of the brain demonstrate the incomplete separation common to semilobar HPE. Inter-hemispheric fissure is invisible in the anterior brain (region encircled). The ventral horns of the lateral ventricle are absent, as well as the genu of the corpus callosum
See this image and copyright information in PMC

References

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