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Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death

Amish Chinoy1, Indraneel Banerjee1, Sarah E Flanagan2

  • 11 Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
|March 22, 2018
PubMed

Insights

Congenital hyperinsulinism (CHI), a cause of infant hypoglycemia, can lead to sudden death. Postmortem examination of pancreatic tissue is crucial for diagnosing focal CHI in unexpected infant deaths.

Area of Science:

  • Pediatric Endocrinology
  • Pathology
  • Genetics

Background:

  • Congenital hyperinsulinism (CHI) is a leading cause of persistent, severe hypoglycemia in infants.
  • Unregulated insulin secretion from pancreatic beta-cells can lead to profound hypoglycemia, risking brain injury and death.
  • CHI presents in focal and diffuse forms, with focal CHI characterized by localized beta-cell hyperplasia.

Observation:

  • A 4-month-old infant presented with sudden illness and collapse, leading to death.
  • Postmortem pancreatic histopathology was consistent with focal CHI.
  • Immunofluorescence revealed limited p57kip2 expression in beta-cells, supporting the diagnosis.

Findings:

  • Genetic mutation testing for known CHI-associated genes in the focal lesion was negative.
  • Despite negative genetic results, the clinicopathological findings strongly indicated focal CHI.
  • This case underscores the diagnostic challenges in congenital hyperinsulinism.

Implications:

  • Focal CHI should be considered as a potential cause of sudden infant death.
  • Routine postmortem pancreatic examination is recommended for sudden, unexplained infant deaths.
  • Early diagnosis and management of CHI are critical to prevent severe outcomes.

Keywords:
congenital hyperinsulinismhypoglycemiainsulinpancreaspostmortemsudden infant death

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