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Neonatal diabetes mellitus due to pancreatic agenesis and pervasive developmental disorder

DOI: 10.1186/1824-7288-35-23

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Dear Editor,Recent studies suggested a link between type 1 diabetes mellitus and pervasive developmental disorder (PDD) and hypothesized a common autoimmune pathogenesis or shared genetic factors [1]. Confirmation of an association between PDD and type 1 diabetes mellitus is still lacking. On the contrary permanent neonatal diabetes mellitus (PNDM) due to pancreas agenesis is an extremely rare condition, associated with intra-uterine growth retardation (IUGR), cardiac defects, gall bladder or cerebellum agenesis [2]. No association with psychiatric symptoms has been described up to now. We describe a patient with association of PNDM due to pancreatic agenesis, mild mental retardation and PDD. The patient, a boy who is currently aged 6, is the first child of healthy unrelated parents (father from Italy and mother from Spain). He was born at 35 weeks of gestation, with severe IUGR (weight 1620 g, <3rd percentile and length 45 cm, <3rd percentile) [3]. In the first day of life he developed hyperglycemia: neonatal diabetes was diagnosed and treated with insulin, initially intravenously and then subcutaneously. Atrial septal defect was discovered, in absence of other dysmorphic features. Pancreas agenesis was detected by ultrasound, and then confirmed by magnetic resonance imaging (MRI). Pancreatic exocrine insufficiency was treated with enzymes. Glycemic control was characterized during the first two years of life by fluctuations despite strict dietary regimen and frequent variation of insulin dosages. When 3 month-old the child presented a severe episode of hypoglicemia (plasma glucose 30 mg%); intramuscular glucagon was administrated and no neurological damage was evident at subsequent neuroimaging studies. Karyotype was normal and search for Fragile-X Syndrome was negative, as well as genetic testing for the most common forms of neonatal diabetes [4]. Brain MRI and neurophysiologic evaluations (auditory brainstem evoked potential, nerve conduction velocities and elec


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