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Case Reports
. Jan-Feb 2019;22(1):65-69.
doi: 10.1177/1093526618765376. Epub 2018 Mar 20.

Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death

Case Reports

Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death

Amish Chinoy et al. Pediatr Dev Pathol. .


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.

Keywords: congenital hyperinsulinism; hypoglycemia; insulin; pancreas; postmortem; sudden infant death.

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