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

Robert Hilbrands; Kathelijn Keymolen; Alex Michotte; Miriam Marichal; Filip Cools; Annieta Goossens; Pieter In 't Veld; Jean De Schepper; Andrew Hattersley; Henry Heimberg

doi:10.1186/s12881-017-0419-2

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

Robert Hilbrands, Kathelijn Keymolen, Alex Michotte, Miriam Marichal, Filip Cools, Annieta Goossens, Pieter In 't Veld, Jean De Schepper, Andrew Hattersley, Henry Heimberg

Research output: Contribution to journal › Article › peer-review

8 Citations (Scopus)

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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.

Original language	English
Article number	57
Pages (from-to)	57
Number of pages	6
Journal	BMC Medical Genetics
Volume	18
Issue number	1
DOIs	https://doi.org/10.1186/s12881-017-0419-2
Publication status	Published - 19 May 2017

Keywords

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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10.1186/s12881-017-0419-2

Hilbrands BMC Med Gen 2017Final published version, 1.36 MBLicence: Unspecified

Cite this

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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 laterconfirmed 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{\textquoteright}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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Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report. / Hilbrands, Robert ; Keymolen, Kathelijn ; Michotte, Alex ; Marichal, Miriam ; Cools, Filip; Goossens, Annieta; In 't Veld, Pieter ; De Schepper, Jean; Hattersley, Andrew; Heimberg, Henry.

In: BMC Medical Genetics, Vol. 18, No. 1, 57, 19.05.2017, p. 57.

Research output: Contribution to journal › Article › peer-review

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AU - Hilbrands, Robert

AU - Keymolen, Kathelijn

AU - Michotte, Alex

AU - Marichal, Miriam

AU - Cools, Filip

AU - Goossens, Annieta

AU - In 't Veld, Pieter

AU - De Schepper, Jean

AU - Hattersley, Andrew

AU - Heimberg, Henry

PY - 2017/5/19

Y1 - 2017/5/19

N2 - 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 laterconfirmed 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.

AB - 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 laterconfirmed 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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KW - Sequence Analysis, DNA

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

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