Mutations of ABCC8 or KCNJ11 genes encoding subunits of ATP-sensitive potassium channel in majority of cases
Mutations of GCK, GLUD1, HSD17B10 (SCHAD), SLC16A1, HNF1A, HNF4A, or UCP2 genes in minority of cases
Top Differential Diagnoses
This 0.8-cm nodule detected by image studies in the distal pancreas was from a 5-week-old girl who presented with persistent hypoglycemia. Preoperative genetic testing was consistent with focal nesidioblastosis (NB). The nodule is well demarcated and consists of clusters of endocrine cells, as highlighted by chromogranin stain
.
This frozen section was performed on a pancreatic nodule excised from a neonate with hyperinsulinism. It shows a few endocrine cells with enlarged nuclei
, consistent with focal NB.
This total pancreatectomy from a neonate with diffuse NB shows multiple islet cells with enlarged and hyperchromatic nuclei
, which are 3x larger than normal. The size and shape of islets do not appear abnormal in this case, but the number is increased.
. This phenomenon was originally termed nesidioblastosis, which now has a different pathologic meaning.TERMINOLOGY
Abbreviations
Definitions
• Pathologic changes in pancreatic islets associated with functional dysregulation of β cells that leads to hyperinsulinemic hypoglycemia
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