Congenital hyperinsulinism (CHI) is a complex heterogeneous disease affecting 1 in 40.000 newborns. Recurrent hypoketotic hypoglycaemia led to permanent mental and motor disabilities in 30-40% of children. Histologically three types had been differentiated: focal, diffuse and atypical. Up to now, only focal-type CHI can be permanently cured by focus removal. Focal-type CHI is characterized by paternal inherited mutation of ABCC8 or KCNJ11 mutations. Therefore mutation analysis of both components of sulfonylurea channel gene is considered standard of care. Localization diagnosis is recommended in all cases with mutation-positive results. In 2003 Otonkoski et al. described [18F]F-DOPA-PET as an accurate method to detect pancreatic hyperfunctioning focal area. Further modifications using hybrid technology of [18F]F-DOPA-PET-CT were developed and a high sensitivity had been described by expert centers. In our cohort of 230 children with congenital hyperinsulinism we suspected focal-type CHI after detection of an isolated paternal transmitted mutation in ABCC8 or KCNJ11 gene. Pancreatic surgery was performed in 86 children to electively remove the hyperfunctioning focus and 25 children with non-focal CHI not responsive to drug therapy. In this series of 111 histology-proven CHI patients we found a sensitivity of 0.97, specificity of 1.0 and positive predictive value (PPV) of 1.0. Negative predictive value (NPV) was 0.88. Since 2015 our collaborative alliance for congenital hyperinsulinism (COACH) further advanced the [18F]F-DOPA technology using [18F]F-DOPA-PET/MRI. 30 patients characterized by isolated paternal transmitted mutation in ABCC8 or KCNJ11 gene were investigated by [18F]F-DOPA-PET/MRI. Histologically a focus was proven in all children and postoperatively euglycemic without need of further treatment. In conclusion, [18F]F-DOPA-PET/MRI is highly recommended for CHI focus localization: (1) with high sensitivity in focus localization, (2) reduced radiation and (3) visibility of sensitive structures including pancreatic duct for guidance of pancreas surgery.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology