Background: Congenital hyperinsulinism (CHI) is the most important causes of persistent hypoglycemia in infants during the first few days after birth.
Objective and hypotheses: We report an 11-day-old female infant admitted with persistent hypoglycemia since 11 h after born.
Method: Multiple tests and imageological examinations were used to detect the cause of hypoglycemia. A whole-body PET CT-scan with [⊃F]-L-dihydroxyphenylalanine (DOPA) to detect lesions of organs. PCR and directly sequencing for mutation detection of all the 39 exons and the flanking intronexon boundaries of ABCC8 gene.
Results: Blood biochemical examinations shown CHI was diagnosed definitely. Genetic analysis of the infant revealed a new heterozygous ABCC8 Arg598stop mutation, but not in the parents. The whole-body PET CT-scan with [⊃F]-L-DOPA revealed a mildly hypermetabolic lesion in distal part of the body of pancreas. Then partial lesion resection of pancreas was performed, and the infant remained euglycemic with normal feeding. Clinicopathologic and immunohistochemical analysis prompted focal nesidioblastosis.
Conclusion: We reported a novel Arg598stop mutation of ABCC8 gene in an infant of CHI. [⊃F]-L-DOPA PET can help to identify of focal and diffuse forms of CHI effectively. Indeed, the high sensitivity of this method could aid surgeons to perform a curative partial resection of pancreas without the high risk of long-term diabetes mellitus.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology