Unusual case of neonatal diabetes mellitus due to congenital pancreas agenesis.
ABSTRACT Congenital absence of the pancreas is an extremely rare condition. We participated in the care of a patient with an unusual presentation of neonatal diabetes attributable to agenesis of the pancreas. Additional clinical features of the patient included cardiac septal defects, gall bladder agenesis and duodenal malrotation. Appropriate institution of insulin, exocrine pancreatic supplements and surgical repair of the cardiac and intestinal anomalies resulted in the infant's survival. Of the reported cases of congenital pancreas agenesis, two cases have been ascribed to mutations in the insulin promoter factor-1(Ipf-1) gene. Deletion of the Ipf-1-homolog pdx-1 in mice results in the failure of pancreas to develop. Analysis of both exons of the Ipf-1 coding sequence from the presented patient's genomic DNA, however, did not identify a mutation. These results suggest that a congenital or genetic perturbation occurred in this infant most likely before the appearance of dorsal pancreatic bud in the 3 mm long embryonic stage, around the embryonic day 25 in human development, before the onset of Ipf-1 expression.
Article: Neonatal diabetes mellitus accompanied by diabetic ketoacidosis and mimicking neonatal sepsis: a case report.[show abstract] [hide abstract]
ABSTRACT: Neonatal diabetes mellitus (DM) develops within the first six weeks of life with basic findings including dehydration, hyperglycaemia, and mild or no ketonemia/ketonuria. It can be either transient or permanent. Here, we report a case of a one-month-old infant with permanent neonatal diabetes, due to pancreatic hypoplasia, accompanied by diabetic ketoacidosis (DKA). The hyperglycaemia and ketoacidosis resolved by the 14(th) hour of treatment, consisting of IV insulin and rehydration. Subsequently, insulin treatment was continued with neutral protamine hagedorn (NPH) insulin. Breastfeeding was started and was continued at intervals of three hours. Following initiation of breastfeeding, the stools became watery, loose, yellow-green in color, and frequent (8-10 times a day). They contained no blood or mucus. Replacement of pancreatic enzymes resulted in decreased stool frequency. Neonatal DM due to pancreatic hypoplasia and associated with DKA may mimic sepsis and should be kept in mind in all newborns who present with fever, dehydration, and weight loss.Journal of Clinical Research in Pediatric Endocrinology 09/2010; 2(3):131-3.