Abstract
BackgroundPancreatic 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 presentationWe 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.ConclusionsDevelopmental defects of the pancreas and brain can occur together. Identifying the genetic defect may identify a novel key regulator in beta cell development.
Highlights
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
It is monogenic in origin and mutations in the KCNJ11 gene are the most frequent cause, resulting in normal pancreas and beta cell development but impaired insulin secretion [1]
Many of these genes are crucial for beta cell function and some may play a role in embryonic development of the exocrine and/or endocrine pancreas
Summary
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. Identifying the genetic defect may identify a novel key regulator in beta cell development. It is monogenic in origin and mutations in the KCNJ11 gene are the most frequent cause, resulting in normal pancreas and beta cell development but impaired insulin secretion [1]. More genes have been identified as a direct cause of neonatal diabetes [3,4,5].
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have