Neonatal diabetes mellitus due to pancreas agenesis: a new case report and review of the literature

Abstract

Neonatal diabetes mellitus (NDM) is a rare condition (1:400,000 neonates) defined as hyperglycemia occurring in the first months of life, lasting more than 2 wk and requiring insulin for management. We here report on a 33-month-old girl with pancreatic agenesis, an extremely rare cause of permanent neonatal diabetes mellitus (PNDM). Timely diagnosis and adequate treatment of both endocrine and exocrine insufficiency may permit survival and normal development.

Neonatal Diabetes Mellitus Accompanied by Diabetic Ketoacidosis and Mimicking Neonatal Sepsis: A Case Report

“…Frequent stools following breastfeeding also suggested an associated pancreatic exocrine deficiency. Frequent stools may not be observed immediately after birth and may be delayed up to one month of age (12), as seen in our patient.…”

Diabetes mellitus due to agenesis of the dorsal pancreas in a patient with heterotaxy syndrome

“…Complete agenesis of the pancreas is a rare cause of neonatal DM, which is associated with malabsorption, severe intrauterine growth retardation, and usually fatal outcomes111213). Partial agenesis of the ventral pancreas is described as a very rare congenital anomaly14), and its coincidence with DM has not been reported.…”

Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis

“…Although permanent neonatal diabetes caused by failure of the pancreas todevelop is an extremely rare condition, several reports have been published in which no genetic aetiology could be found [21,22]. This condition is often associated with various congenital malformations [15,23] and the most commonly recorded are intrauterine growth retardation (90% of patients), anomalies of the biliary system (50%) and heart defects (36%). The combination of congenital heart defects and pancreatic agenesis was first reported in a study by Gurson et al [14], in which the authors described a 40-day-old female, born to nonconsanguineous parents, with evidence of pancreatic agenesis and ventricular septal defect identified at autopsy.…”