Pancreatic Agenesis with Congenital Diaphragmatic Hernia and Congenital Heart Disease: A Case Report

Abstract

Pancreatic agenesis is a rare disease that causes neonatal diabetes mellitus and exocrine pancreatic insufficiency. We report the case of a very low birth weight infant with congenital diaphragmatic hernia, and congenital heart disease (ventricular septal defect and patent ductus arteriosus). Failure to gain weight, despite well-managed respiratory and heart failure, was improved by infusion of subcutaneous insulin, administration of pancreatic enzyme, and nutrition of medium-chain-triglyceride -enriched formula. This is the first case of pancreatic agenesis with both malformations where the patient is discharged from the hospital. Early diagnosis and adequate treatments to compensate pancreatic function may prevent mortality and improve growth.

Keywords

pancreatic agenesis - congenital diaphragmatic hernia - congenital heart disease - therapy

• References

• 1 Hill DJ, Milner RD. Insulin as a growth factor. Pediatr Res 1985; 19 (9) 879-886
• 2 Baumeister FA, Engelsberger I, Schulze A. Pancreatic agenesis as cause for neonatal diabetes mellitus. Klin Padiatr 2005; 217 (2) 76-81
• 3 Gürson CT, Tahsinoglu M, Yakacikli S, Ertugrul T. A case of agenesis of the dorsal pancreas with interventricular septal defect in an infant. Helv Paediatr Acta 1970; 25 (5) 522-526
• 4 Yorifuji T, Matsumura M, Okuno T , et al. Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome?. J Med Genet 1994; 31 (4) 331-333
• 5 Balasubramanian M, Shield JP, Acerini CL , et al. Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay. Am J Med Genet A 2010; 152A (2) 340-346
• 6 Lemons JA, Ridenour R, Orsini EN. Congenital absence of the pancreas and intrauterine growth retardation. Pediatrics 1979; 64 (2) 255-257
• 7 Barbarini DS, Haslinger V, Schmidt K, Patch AM, Müller G, Simma B. Neonatal diabetes mellitus due to pancreas agenesis: a new case report and review of the literature. Pediatr Diabetes 2009; 10 (7) 487-491
• 8 Thomas IH, Saini NK, Adhikari A , et al. Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. Pediatr Diabetes 2009; 10 (7) 492-496
• 9 Nicolino M, Claiborn KC, Senée V, Boland A, Stoffers DA, Julier C. A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. Diabetes 2010; 59 (3) 733-740
• 10 Lango Allen H, Flanagan SE, Shaw-Smith C , et al; International Pancreatic Agenesis Consortium. GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nat Genet 2012; 44 (1) 20-22
• 11 Bonnefond A, Sand O, Guerin B , et al. GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes. Diabetologia 2012; 55 (10) 2845-2847