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Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report.
- Source :
-
BMC medical genetics [BMC Med Genet] 2017 May 19; Vol. 18 (1), pp. 57. Date of Electronic Publication: 2017 May 19. - Publication Year :
- 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.<br />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.<br />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.
- Subjects :
- Brain abnormalities
Brain embryology
Congenital Abnormalities diagnosis
Developmental Disabilities diagnosis
Developmental Disabilities genetics
Female
Gallbladder embryology
Holoprosencephaly diagnosis
Humans
Infant, Newborn
Infant, Newborn, Diseases diagnosis
Infant, Newborn, Diseases genetics
Pancreas embryology
Sequence Analysis, DNA
White People
Congenital Abnormalities genetics
Gallbladder abnormalities
Holoprosencephaly genetics
Pancreas abnormalities
Subjects
Details
- Language :
- English
- ISSN :
- 1471-2350
- Volume :
- 18
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- BMC medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 28525974
- Full Text :
- https://doi.org/10.1186/s12881-017-0419-2