Background: Congenital hyperinsulinism leads to unregulated insulin secretion and hypoglycemia. Diagnosis can\nbe difficult and genetic testing may be warranted.\nCase: This patient initially presented at 11 months with seizure activity secondary to severe hypoglycemia. Her\ndiagnostic evaluation included genetic studies, which confirmed congenital hyperinsulinism. A novel combination\nof mutations in the ABCC8 gene leading to diffuse, diazoxide-unresponsive congenital hyperinsulinism was\nidentified. Mutation analysis of ABCC8 showed three variants (R1215W ââ?¬â?? paternal, pathogenic; W739C ââ?¬â?? maternal,\nvariant of unknown significance; R1393L ââ?¬â?? maternal, variant of unknown significance). Her clinical course continues\nto be complicated by severe, refractory hypoglycemia at age 3 years.\nConclusion: We describe a novel compound heterozygous mutation leading to diffuse, diazoxide-unresponsive\ncongenital hyperinsulinism. This case illustrates challenges associated with diagnosing and managing congenital\nhyperinsulinism and the importance of genetic testing.
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