Endocrine Abstracts

We present a patient who was incidentally diagnosed with neonatal diabetes at 4 months of age. Due to his small size his treatment has posed a number of challenges for our team.

Case Report: A 4 month old boy presented to the Emergency Department with a petechial rash on his legs. Investigations revealed elevated blood glucose of 26.7 mmol/l but a normal pH of 7.39. He had glycosuria but no ketonuria. There was no history of weight loss or osmotic symptoms. Fasting blood glucose remained elevated at 15.6 mmol/l the following morning. He was commenced on intravenous insulin via a sliding scale. Two days later this was changed to long acting subcutaneous insulin Detemir only. After 4 weeks he was commenced on pump therapy, in conjunction with a sensor and the low glucose suspend function activated.

Further investigations revealed an elevated HbA1c of 113 mmol/mol, normal insulin, low C-peptide and negative pancreatic Antibodies. Genetic testing showed a heterozygous mutation in the INS gene, confirming the diagnosis of permanent neonatal diabetes.

His care has posed a number of challenges for the multidisciplinary Diabetic team due to his small size at diagnosis (weight 7 Kg). We have encountered problems with blood glucose testing (immersion of feet in warm water), unreliability of sensor data, causing the pump to be suspended unnecessarily, and issues with correction doses, which had to be calculated manually. His pump was also stopped for 2 weeks due to gastroenteritis.

Proband is now 3 years of age, with good diabetic control (HbA1c 43–55 mmol/mol), although he continues to have problems with frequent blood glucose testing and his parents manually calculate insulin boluses.

Conclusion: All children diagnosed with diabetes at less than 6 months of age should have genetic testing for neonatal diabetes. The treatment of babies with diabetes is very challenging, although as technology advances, it is becoming easier. It is important that a multidisciplinary approach is used and that the family is involved in all aspects of care.