Case report: contradictory genetics and imaging in focal congenital hyperinsulinism reinforces the need for pancreatic biopsy.

Daphne YauRia MarwahaKlaus MohnikeRakesh SajjanSusann EmptingRoss J CraigieMark J DunneMaria Salomon-EstebanezIndraneel Banerjee

Published in: International journal of pediatric endocrinology (2020)

Identifying discrepancies between genetic and imaging investigations is crucial as this may negatively impact upon the diagnosis and surgical treatment of focal CHI. This case highlights the need for pancreatic biopsy when a strong suspicion of focal CHI is present even if 18F-DOPA imaging fails to demonstrate a discrete lesion.

Keyphrases

high resolution
case report
ultrasound guided
gene expression
dna methylation
mass spectrometry