Surgery in Focal Congenital Hyperinsulinism (CHI) - The "Hyperinsulinism Germany International" Experience in 30 Children

Pediatr Endocrinol Rev. 2016 Dec;14(2):129-137. doi: 10.17458/PER.2016.BVE.Surgeryinfocal.

Abstract

Objectives: Results of surgery for focal CHI in 30 children PATIENTS AND METHODS: All showed an ABCC8 or KCNJ11 mutation. After PET/CT in 29 children and PET/MRT in 1 case, frozen-section guided resection was performed, in left-sided cases by laparoscopy. Mean age at surgery was 11.7 months (2-49).

Results: In 28/30 children, the PET/CT or MRT correlated with histopathology. In two cases, a focal lesion was undectable; one of these was cured, one not. In total, 24 children showed lesions with sizes of 5-12 mm. All were cured instantly. In four children with huge lesions in the pancreatic head, pathological cells remained at the resection margins. One child was cured instantly, two children after a 2nd surgery, and one child was not cured, even after three surgeries. The overall cure rate was 93%.

Conclusions: Imaging, surgical findings, histopathology and clinical outcome in surgery for focal CHI match in most, but not all cases.

Keywords: 18F-DOPA PET/CT; Focal congenital hyperinsulinism; Genetics; MRI; Surgery.

MeSH terms

  • Child
  • Child, Preschool
  • Cohort Studies
  • Congenital Hyperinsulinism / genetics
  • Congenital Hyperinsulinism / surgery*
  • Female
  • Germany
  • Humans
  • Infant
  • Male
  • Mutation
  • Potassium Channels, Inwardly Rectifying / genetics
  • Retrospective Studies
  • Sulfonylurea Receptors / genetics

Substances

  • ABCC8 protein, human
  • Kir6.2 channel
  • Potassium Channels, Inwardly Rectifying
  • Sulfonylurea Receptors