Background: It is known that PDX-1 gene mutation is related to neonatal diabetes, pancreas agenesis and intrauterine growth retardation. Here the aim was to present a novel defined mutation in PDX-1 gene in case born with IUGR, diagnosed with neonatal diabetes and in which exocrine pancreas deficiency and gallbladder agenesis were detected.
Case presentation: Blood glucose was measured as 185 mg/dl in the first hour after birth and insulin infusion was given at intervals to the case whose blood sugar was >250 mg/dl during observation and the case was referred to our clinic. In the physical examination of the male baby born with a weight of 1520 g in the 37th week as G1P1 from 19 year old mother with a story of 1° cousin marriage in his parents, the body weight was 1400 g (<3p), height was 42.5 cm (<3p) and the head circumference was 31 cm (<3p) and they were smaller when pregnancy week was considered. Referral blood sugar was found 216 mg/dl and it reached up to 500 mg/dl in the follow-ups. Cholestatic giant celled hepatitis was detected in the liver needle biopsy of patient whose faecal elastase level was >200 ng/ml and had direct hyperbilirubinemia. Blood sugar regulation was provided with insulin pump to the case whose satisfactory nutrition could not be provided due to exocrine pancreas function disorder and who was experiencing hypoglycemia and hyperglycemia even though 0.2 U/kg per day SC insulin dose was given. Gallbladder imaging was impossible in ultrasonography and magnetic resonance cholangiography. A novel homozygote mutation was detected in PDX-1 gene Exon 2 with Whole Exom sequencing method [c.593G>C;p.Arg198Pro(p.R198P)]. It was observed that the parents had heterozygote mutation. The patient was discharged with insulin pump in the postnatal fourth month.
Conclusion: PDX-1 was detected to play a very significant role including pancreas and islet functions and we think that the new mutation we defined would contribute to the literature.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology