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Pathological Features of Aberrant Pancreatic Development in Congenital Hyperinsulinism Due to ABCC8 Mutations

Address correspondence to Nina Tatevian, M.D., Ph.D., Department of Pathology, Texas Children’s Hospital, 6621 Fannin St. MC2-2261, Houston TX 77030, USA; tel 832 824 1868; fax 832 825 1032; e-mail nxtatevi{at}texaschildrenshospital.org.

We describe a patient with congenital hyperinsulinism with previously unreported pathological findings including normal to decreased number of insulin-positive cells with very few enlarged nuclei, aberrant distribution of glucagon-positive cells, and a non-insulin producing adenomatous focus of unusual morphology. Molecular analysis showed that the patient was a compound heterozygote for two mutations of the ABCC8 gene: a previously unreported nonsense mutation (R841X) and a missense mutation (D1471N) that has been previously described. This case suggests that abnormal function of ABCC8 may result in aberrant pancreatic development.

Keywords: congenital hyperinsulinism, ABCC8 gene mutation, pancreatic development, glucagon