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Published on: May 2, 2017
Evaluation of Congenital Hyperinsulinism Using 18F-FDOPA PET
Lisa J States1, Peter Francis2, Eva R Hamel3
1Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Insights
Congenital hyperinsulinism causes infant hypoglycemia. Genetic analysis guides treatment, identifying focal disease for surgical cure in about half of patients unresponsive to diazoxide therapy.
Area of Science:
- Pediatric Endocrinology
- Medical Genetics
- Surgical Oncology
Background:
- Congenital hyperinsulinism (HI) is a leading cause of persistent infant hypoglycemia.
- Mutations in insulin secretion regulatory genes cause HI.
- Diazoxide-unresponsive HI may necessitate surgical intervention.
Purpose of the Study:
- To highlight the role of genetic analysis in managing congenital hyperinsulinism.
- To determine the utility of genetic testing in predicting focal disease.
- To identify patients who would benefit from 18F-l-dihydroxyphenylalanine PET scans.
Main Methods:
- Review of genetic analysis techniques for HI.
- Correlation of genetic findings with disease presentation.
- Evaluation of diagnostic imaging for focal HI lesions.
Main Results:
- Approximately 50% of persistent HI cases exhibit a focal form.
- Focal HI is potentially curable with surgical resection.
- Rapid genetic analysis predicts focal disease likelihood.
Conclusions:
- Genetic analysis is crucial for predicting focal congenital hyperinsulinism.
- It aids in selecting patients for 18F-l-dihydroxyphenylalanine PET imaging.
- This approach optimizes surgical treatment decisions for HI.
Abstract:
Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in infants and is caused by mutations in genes encoding proteins regulating insulin secretion. Children with persistent hypoglycemia due to hyperinsulinism (HI) that do not respond to therapy with diazoxide may require surgical treatment. Approximately 50% of these children have a focal form of HI that can be cured by surgical resection. Rapid genetic analysis helps predict the likelihood of focal disease and is essential for choosing patients who will benefit from an 18F-l-dihydroxyphenylalanine PET scan for localization of a focal lesion.
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