The Growth History of a Girl carrying ABCC8 Gene Mutation resulting in Congenital Hyperinsulinism

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Objective: Congenital hyperinsulinism (CHI) is the most common cause of severe, persistent hypoglycemia in newborns and infancy.Increasingly more mutations of genes were found to be associated with CHI. Methods:The following were performed on a female infant diagnosed to suffer from CHI.PCR and directly sequencing for mutation detection of all the 39 exons and the flanking intron-exon boundaries of ABCC8 gene, a whole-body PET CT-scan with [18F]-L-Dihydroxyphenylalanine (DOPA) to detect lesions of organs, clinicopathologic and immunohistochemical analysis for pathological diagnosis.Blood glucose was then continuously monitored, and she was followed up every six months.Results: Genetic analysis of the girl revealed a heterozygous ABCC8 R598X mutation.The whole-body PET CT-scan with [ 18 F]-L-DOPA revealed a mildly hypermetabolic lesion in distal part of the body of pancreas.After the partial lesion resection of pancreas, clinicopathologic and immunohistochemical analysis prompted focal nesidioblastosis.Then the girl remained euglycemic with normal feeding, now is six years old with normal growth rate. Conclusion:We reported a girl with R598X mutation of ABCC8 gene resulting in CHI.[ 18 F]-L-DOPA PET can help to identify focal and diffuse forms of CHI effectively.Then surgery can help to control hypoglycemia.