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

Autor: Pieter In 'T Veld, Robert Hilbrands, Alex Michotte, Annieta Goossens, Kathelijn Keymolen, Miriam Marichal, Jean De Schepper, Filip Cools, Harry Heimberg, Andrew T. Hattersley
Přispěvatelé: Faculty of Medicine and Pharmacy, Pathology/molecular and cellular medicine, Diabetes Pathology & Therapy, Clinical sciences, Anatomy, Basic (bio-) Medical Sciences, Neuroprotection & Neuromodulation, Vriendenkring VUB, Medicine and Pharmacy academic/administration, Growth and Development, Pathology, Pediatrics, Biology of the Testis, Beta Cell Neogenesis, Experimental Pathology
Rok vydání: 2017
Předmět:
0301 basic medicine
Pathology
Developmental Disabilities
Developmental Disabilities/diagnosis
Case Report
Autopsy
Infant
Newborn
Diseases
Neonatal diabetes mellitus
Holoprosencephaly
Pancreas agenesis
Medicine
Genetics (clinical)
Brain
Gallbladder
Semilobar holoprosencephaly
3. Good health
medicine.anatomical_structure
Brain/abnormalities
Agenesis
Female
Gallbladder/abnormalities
Beta cell
Pancreas
lcsh:Internal medicine
medicine.medical_specialty
lcsh:QH426-470
European Continental Ancestry Group
Pancreas/abnormalities
Holoprosencephaly/diagnosis
White People
Congenital Abnormalities
03 medical and health sciences
Internal medicine
Genetics
Humans
lcsh:RC31-1245
business.industry
Infant
Newborn
Sequence Analysis
DNA
medicine.disease
Congenital Abnormalities/diagnosis
Infant
Newborn
Diseases/diagnosis
lcsh:Genetics
030104 developmental biology
Endocrinology
Premanent neonatal diabetes mellitus
business
Zdroj: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-5 (2017)
BMC Medical Genetics
ISSN: 1471-2350
DOI: 10.1186/s12881-017-0419-2
Popis: 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.
Databáze: OpenAIRE
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