Pancreas hypoplasia: an unusual cause of neonatal diabetes mellitus and exocrine pancreas insufficiency – Case report and discussion

Neonatal Diabetes Mellitus (NDM) is a rare condition, occurring in 1: 300rsquor;000–400rsquor;000 live births. Only few cases of pancreatic hypoplasia or agenesis have been published as possible aetiology of NDM. Mutations in transcription factors involved in pancreas development were found in rare cases.

Here, we present the clinical course of a term born girl of non-consanguine parents with intrauterine growth retardation (1600g, P<3, z-Score: –3.84) after uneventful pregnancy. On the first day she showed mild hypoglycaemia and was admitted to our NICU. After administration of i.v. glucose and parenteral nutrition high blood glucose values were noted–even hours after having stopped the glucose treatment. Suspecting NDM, an i.v. insulin therapy was established and replaced by an s.c. insulin pump therapy after definitive diagnosis. The daily amounts of insulin varied significantly in the first 2 months. The diagnosis of NDM was established on the basis of undetectable levels of C-peptide, endogenous insulin and absence of autoimmune diabetes mellitus specific antibodies. Additional exocrine pancreas insufficiency was suspected by impaired weight gain, and undetectable pancreatic elastase in the faeces after 3 weeks. Imaging of the abdomen showed only rudimentary pancreatic tissue suggesting pancreas hypoplasia.

Permanent neonatal hyperglycaemia warrants measurement of insulin, C-peptide, beta-cell specific antibodies, search for exocrine pancreas insufficiency and a radiologic evaluation of the pancreas morphology. The therapy of this rare condition consists in high caloric intake, insulin and pancreatic enzyme substitution. Few data are available on long-term outcome.

Literatur: 1. Chen R, Hussain K, Al-Ali M, et al. Neonatal and late-onset diabetes mellitus caused by failure of pancreatic development: report of 4 more cases and a review of the literature. Pediatrics. 2008;121(6):e1541-7. 2. Polak M, Cavé H. Neonatal diabetes mellitus: a disease linked to multiple mechanisms. Orphanet J Rare Dis. 2007;2:12. 3. Flechtner I, Vaxillaire M, Cavé H, et al. Neonatal hyperglycaemia and abnormal development of the pancreas. Best Pract Res Clin Endocrinol Metab. 2008;22(1):17-40. 4. Sellick GS, Barker KT, Stolte-Dijkstra I, et al. Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nat Genet. 2004;36(12):1301-5.

exocrine pancreas insufficiency - neonatal diabetes mellitus - pancreas hypoplasia