Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death. (January 2019)

• Record Type: Journal Article
• Authors: Chinoy, Amish; Banerjee, Indraneel; Flanagan, Sarah E; Ellard, Sian; Han, Bing; Mohamed, Zainab; Dunne, Mark J; Bitetti, Stefania
• Is Part Of: Pediatric and developmental pathology. Volume 22:Number 1(2019)
• Page Start: 65
• Page End: 69
• Publication Date: 2019-01
• Subjects: congenital hyperinsulinism -- hypoglycemia -- postmortem -- sudden infant death -- pancreas -- insulin; Pediatric pathology -- Periodicals; Children -- Diseases -- Periodicals; Diagnosis, Laboratory -- Periodicals; Abnormalities, Human -- Periodicals; Child development -- Periodicals; Pediatrics -- Periodicals; 616.07
• DOI: 10.1177/1093526618765376
• Languages: English
• ISSNs: 1093-5266

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 p57 kip2 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.