Frontiers in Pediatrics (Jul 2021)
Case Report: Two Distinct Focal Congenital Hyperinsulinism Lesions Resulting From Separate Genetic Events
- Elizabeth Rosenfeld,
- Elizabeth Rosenfeld,
- Lauren Mitteer,
- Lauren Mitteer,
- Kara Boodhansingh,
- Kara Boodhansingh,
- Susan A. Becker,
- Susan A. Becker,
- Heather McKnight,
- Heather McKnight,
- Linda Boyajian,
- Linda Boyajian,
- Amanda M. Ackermann,
- Amanda M. Ackermann,
- Amanda M. Ackermann,
- Jennifer M. Kalish,
- Jennifer M. Kalish,
- Jennifer M. Kalish,
- Tricia R. Bhatti,
- Tricia R. Bhatti,
- Lisa J. States,
- Lisa J. States,
- N. Scott Adzick,
- N. Scott Adzick,
- Katherine Lord,
- Katherine Lord,
- Katherine Lord,
- Diva D. De León,
- Diva D. De León,
- Diva D. De León
Affiliations
- Elizabeth Rosenfeld
- Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- Elizabeth Rosenfeld
- Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- Lauren Mitteer
- Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- Lauren Mitteer
- Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- Kara Boodhansingh
- Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- Kara Boodhansingh
- Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- Susan A. Becker
- Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- Susan A. Becker
- Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- Heather McKnight
- Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- Heather McKnight
- Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- Linda Boyajian
- Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- Linda Boyajian
- Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- Amanda M. Ackermann
- Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- Amanda M. Ackermann
- Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- Amanda M. Ackermann
- Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States
- Jennifer M. Kalish
- Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- Jennifer M. Kalish
- Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States
- Jennifer M. Kalish
- Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- Tricia R. Bhatti
- Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- Tricia R. Bhatti
- Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States
- Lisa J. States
- Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- Lisa J. States
- Department of Radiology, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States
- N. Scott Adzick
- Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- N. Scott Adzick
- Department of Surgery, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States
- Katherine Lord
- Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- Katherine Lord
- Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- Katherine Lord
- Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States
- Diva D. De León
- Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- Diva D. De León
- Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States
- Diva D. De León
- Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States
- DOI
- https://doi.org/10.3389/fped.2021.699129
- Journal volume & issue
-
Vol. 9
Abstract
Focal hyperinsulinism (HI) comprises nearly 50% of all surgically treated HI cases and is cured if the focal lesion can be completely resected. Pre-operative localization of the lesion is thus critical. Few cases of hyperinsulinism with multiple focal lesions have been reported, and assessment of the molecular mechanisms driving this rare occurrence has been limited. We present two cases of multifocal HI, each resulting from two independent, pancreatic focal lesions. 18Fluoro-dihydroxyphenylalanine positron emission tomography/computed tomography detected both lesions preoperatively in one patient, whereas identification of the second lesion was an incidental finding during surgical exploration in the other. Complete resection of the focal lesions resulted in cure of the HI in both cases. In each patient, genetic testing of the individual focal lesions revealed different regions of loss of heterozygosity for the maternal 11p15 allele, confirming that each lesion arose from independent somatic events in the setting of a paternally inherited germline ABCC8 mutation. These cases highlight the importance of a multidisciplinary and personalized approach to the management of infants with HI.
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