Endocrine Abstracts

Background: Neonatal diabetes can present from birth to 6 months of age. This can often be confused with sepsis as there is considerable overlap of symptoms in this age group as illustrated below. We recommend an initial check of blood glucose concentrations in all sick infants who present to accident and emergency.

Case report: A 7-week-old, born to nonconsanguineous parents presented with a temperature of 38.6 °C and a 1 day history of poor feeding. Clinical examination was unremarkable. The working diagnosis was possible sepsis. A blood gas that was done for monitoring of electrolytes showed a glucose concentration of 39 mmol/l with a normal pH. The baby was started on an insulin infusion and then managed on an insulin pump. Genetic analysis showed a KCNJ11 mutation. Insulin was stopped and baby is on glibenclamide.

A second baby, born to consanguineous parents (birth weight of 2.7 kg) presented at 24 days of age with a 1 day history of vomiting and poor feeding. The baby was mildly tachypnoeic. A diagnosis of sepsis was made. Again an incidental blood gas showed the baby to be in ketoacidosis with a blood glucose of 43 mmol/l. Insulin infusion was commenced and the baby was subsequently managed on a pump. Genetic analysis revealed a recessive non coding INS mutation. The baby went into remission in 2 weeks and is currently off insulin.

Conclusions: The cases described above illustrate the importance of blood glucose monitoring in sick infants presenting to emergency care settings. Both infants were clinically well and the diagnosis could have been missed. Finally, the phenotype of the diabetes in both infants correlated with the respective mutations.