Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism. Issue 7 (23rd April 2020)

• Record Type: Journal Article
• Authors: Joyce, Caroline M.; Houghton, Jayne A.; O'Halloran, Domhnall J.; O'Shea, Paula M.; O'Connell, Susan M.
• Is Part Of: Clinical case reports. Volume 8:Issue 7(2020)
• Page Start: 1217
• Page End: 1222
• Publication Date: 2020-04-23
• Subjects: 18F‐DOPA -- diabetes mellitus -- Congenital hyperinsulinism -- hypoglycemia -- loss of heterozygosity; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.2885
• Languages: English
• ISSNs: 2050-0904

Abstract

Abstract: Advances in genomics and 18 F‐DOPA PET‐CT imaging have transformed the management of infants with Congenital Hyperinsulinism. Preoperative diagnosis of focal hyperinsulinism permits limited pancreatectomy with improved clinical outcomes while knowledge of the molecular etiology informs genetic counseling and provides a more accurate recurrence risk to families. Abstract : Advances in genomics and 18 F‐DOPA PET‐CT imaging have transformed the management of infants with Congenital Hyperinsulinism. Preoperative diagnosis of focal hyperinsulinism permits limited pancreatectomy with improved clinical outcomes while knowledge of the molecular etiology informs genetic counseling and provides a more accurate recurrence risk to families.