Neonatal diabetes and protein losing enteropathy: a case report

BMC Med Genet. 2016 Apr 21:17:32. doi: 10.1186/s12881-016-0296-0.


Background: Neonatal diabetes is a rare form of monogenic diabetes with onset in the first six months of life occurring in 1/100,000 to 1/400,000 births. Both permanent and transient forms have been described. Permanent neonatal diabetes results predominantly from mutations in the KCNJ11 and ABCC8 genes. Less frequently, mutations of the GATA6 gene, located on chromosome 18 cause a form of permanent neonatal diabetes resulting from pancreatic hypoplasia or agenesis. Other anomalies associated with mutations of this gene have also been reported, most commonly congenital heart disease.

Case presentation: We report the case of a Caucasian male infant diagnosed shortly after birth with neonatal diabetes, truncus arteriosus type III, ventricular septal defect, atrial septal defect, an absent gallbladder and a right inguinal hernia. His diabetes resulted from a de novo mutation of the GATA6 gene resulting in pancreatic hypoplasia. At 20 months of age he developed protein losing enteropathy. This has not previously been associated with GATA6 mutations and it is not known if this association is causal.

Conclusion: The combination of neonatal diabetes and pancreatic agenesis/hypoplasia should alert the clinician to the possibility of a GATA6 gene abnormality. The association of protein losing enteropathy is unique to the reported case.

Keywords: Neonatal diabetes; pancreatic hypoplasia; protein losing enteropathy.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 18 / genetics
  • Diabetes Mellitus / diagnosis
  • Diabetes Mellitus / genetics*
  • GATA6 Transcription Factor / genetics
  • Heart Septal Defects, Atrial / diagnosis
  • Heart Septal Defects, Atrial / genetics
  • Heart Septal Defects, Ventricular / diagnosis
  • Heart Septal Defects, Ventricular / genetics
  • Humans
  • Infant
  • Male
  • Pancreas / pathology
  • Potassium Channels, Inwardly Rectifying / genetics
  • Protein-Losing Enteropathies / diagnosis
  • Protein-Losing Enteropathies / genetics*
  • Sulfonylurea Receptors / genetics
  • Truncus Arteriosus / pathology
  • White People / genetics


  • ABCC8 protein, human
  • GATA6 Transcription Factor
  • GATA6 protein, human
  • Kir6.2 channel
  • Potassium Channels, Inwardly Rectifying
  • Sulfonylurea Receptors

Supplementary concepts

  • Diabetes Mellitus, Permanent Neonatal