%0 Journal Article
%T Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death
%A Amish Chinoy
%A Bing Han
%A Indraneel Banerjee
%A Mark J Dunne
%A Sarah E Flanagan
%A Sian Ellard
%A Stefania Bitetti
%A Zainab Mohamed
%J Pediatric and Developmental Pathology
%@ 1615-5742
%D 2019
%R 10.1177/1093526618765376
%X Congenital hyperinsulinism (CHI) is the commonest cause of persistent and severe hypoglycemia in infancy due to unregulated insulin secretion from pancreatic ¦Â-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 ¦Â-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 ¦Â-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
%K congenital hyperinsulinism
%K hypoglycemia
%K postmortem
%K sudden infant death
%K pancreas
%K insulin
%U https://journals.sagepub.com/doi/full/10.1177/1093526618765376