title: Pancreatic agenesis as cause for neonatal diabetes mellitus.
abstract: BACKGROUND
  Pancreatic agenesis is a rare cause of neonatal diabetes mellitus and the knowledge about the clinical features is sparse. A patient with pancreatic agenesis and double outlet right ventricle is reported. This association has not previously been reported. In addition a synopsis of the patients (n = 14) with pancreatic agenesis who have hitherto been described is given.
  
  
  METHODS
  We studied one patient and obtained information on 13 additional patients with pancreatic agenesis by reviewing literature.
  
  
  RESULTS
  
  
  
  METHODS
  In one patient the pregnancy was terminated at 19 weeks. 31 % (4/13) of the infants died in the first week and 69 % (9/13) in the first six weeks of live, 17 % (2/12) were born preterm and 83 % (10/12) at term, 93 % (13/14) had severe intrauterine growth restriction, onset of diabetes was in 6 out of 10 infants during the first two days of live, ketonuria is rare and has been reported only once. 64 % (9/14) of the infants with pancreatic agenesis had additional malformations mainly of the biliary system (50 %) and/or the heart (36 %). 31 % (4/13) of the infants survived the neonatal period and developed normally. Failure to thrive was compensated by catch-up growth after replacement of pancreatic enzymes and surgical correction of the cardiac malformation.
  
  
  CONCLUSIONS
  Pancreatic agenesis is a clinical entity characterized by severe intrauterine growth retardation, early onset of permanent neonatal diabetes mellitus without ketoacidosis, failure to thrive due to pancreatic exocrine dysfunction and associated malformations mainly of the biliary system or of the heart. Because of the high neonatal mortality, awareness of pancreatic agenesis as a possible cause of severe intrauterine growth restriction is important for the optimal treatment of diabetes mellitus, exocrine pancreatic insufficiency and the associated malformations.
authors.affiliation: Kinderklinik und Poliklinik der Technischen Universität München, Kinderklinik Schwabing, München. FAM.Baumeister@lrz.uni-muenchen.de
authors.forename: F A M
authors.initials: FA
authors.lastname: Baumeister
authors.forename: I
authors.initials: I
authors.lastname: Engelsberger
authors.forename: A
authors.initials: A
authors.lastname: Schulze
mesh_terms: D001786:Blood Glucose / Q000378:metabolism; D003922:Diabetes Mellitus, Type 1 / Q000151:congenital* / Q000175:diagnosis / Q000188:drug therapy; D004310:Double Outlet Right Ventricle / Q000175:diagnosis; D004334:Drug Administration Schedule; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000175:diagnosis*; D007236:Infant, Small for Gestational Age; D007328:Insulin / Q000008:administration & dosage; D007336:Insulin, Isophane / Q000008:administration & dosage; D049528:Insulin, Long-Acting / Q000008:administration & dosage; D010179:Pancreas / Q000002:abnormalities* / Q000473:pathology
chemical_list: D001786:Blood Glucose; D007328:Insulin; D049528:Insulin, Long-Acting; C484564:insulin, long-acting, human; D007336:Insulin, Isophane