Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620683
Title:
Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death.
Authors:
Chinoy, A.; Banerjee, I.; Flanagan, S. E.; Ellard, Sian ( 0000-0002-7620-5526 ) ; Han, B.; Mohamed, Z.; Dunne, M. J.; Bitetti, S.
Abstract:
Congenital hyperinsulinism (CHI) is the commonest cause of persistent and severe hypoglycemia in infancy due to unregulated insulin secretion from pancreatic β-cells. Prompt early diagnosis is important, as insulin reduces glucose supply to the brain, resulting in significant brain injury and risk of death. Histologically, CHI has focal and diffuse forms; in focal CHI, an inappropriate level of insulin is secreted from localized β-cell hyperplasia. We report a 4-month-old male infant, who presented with sudden illness and collapse without a recognized cause and died. Postmortem examination revealed pancreatic histopathology compatible with focal CHI. Immunofluoresence staining showed limited expression of p57kip2 β-cells reinforcing the diagnosis. Mutation testing for genes associated with CHI from DNA from the focal lesion was negative. This case highlights the recognition of focal CHI as a possible cause for sudden infant death. In children dying suddenly and unexpectedly, postmortem pancreatic sections should be carefully examined for focal CHI.
Citation:
Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death. 2018:1093526618765376 Pediatr. Dev. Pathol.
Publisher:
Sage
Journal:
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Issue Date:
1-Jan-2018
URI:
http://hdl.handle.net/11287/620683
DOI:
10.1177/1093526618765376
PubMed ID:
29558846
Additional Links:
http://journals.sagepub.com/doi/abs/10.1177/1093526618765376?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed
Type:
Journal Article
Language:
en
ISSN:
1093-5266
Appears in Collections:
Molecular Genetics; 2018 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorChinoy, A.en
dc.contributor.authorBanerjee, I.en
dc.contributor.authorFlanagan, S. E.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorHan, B.en
dc.contributor.authorMohamed, Z.en
dc.contributor.authorDunne, M. J.en
dc.contributor.authorBitetti, S.en
dc.date.accessioned2018-05-08T08:54:58Z-
dc.date.available2018-05-08T08:54:58Z-
dc.date.issued2018-01-01-
dc.identifier.citationFocal Congenital Hyperinsulinism as a Cause for Sudden Infant Death. 2018:1093526618765376 Pediatr. Dev. Pathol.en
dc.identifier.issn1093-5266-
dc.identifier.pmid29558846-
dc.identifier.doi10.1177/1093526618765376-
dc.identifier.urihttp://hdl.handle.net/11287/620683-
dc.description.abstractCongenital hyperinsulinism (CHI) is the commonest cause of persistent and severe hypoglycemia in infancy due to unregulated insulin secretion from pancreatic β-cells. Prompt early diagnosis is important, as insulin reduces glucose supply to the brain, resulting in significant brain injury and risk of death. Histologically, CHI has focal and diffuse forms; in focal CHI, an inappropriate level of insulin is secreted from localized β-cell hyperplasia. We report a 4-month-old male infant, who presented with sudden illness and collapse without a recognized cause and died. Postmortem examination revealed pancreatic histopathology compatible with focal CHI. Immunofluoresence staining showed limited expression of p57kip2 β-cells reinforcing the diagnosis. Mutation testing for genes associated with CHI from DNA from the focal lesion was negative. This case highlights the recognition of focal CHI as a possible cause for sudden infant death. In children dying suddenly and unexpectedly, postmortem pancreatic sections should be carefully examined for focal CHI.en
dc.language.isoenen
dc.publisherSageen
dc.relation.urlhttp://journals.sagepub.com/doi/abs/10.1177/1093526618765376?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmeden
dc.rightsArchived with thanks to Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Societyen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titleFocal Congenital Hyperinsulinism as a Cause for Sudden Infant Death.en
dc.typeJournal Articleen
dc.identifier.journalPediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Societyen
dc.type.versionIn press (epub ahead of print)en

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