P-306: Severe diabetic ketoacidosis in a neonate with transient diabetes due to maternal hypomethylation of 6q24
J A Vazquez Alvarado, J Cornejo Barrera, M A De Llano Gutiérrez, M G Navarro CasadosAbstract
Introduction
Neonatal diabetes has an incidence of 1 in 100,000 births; when resulting from hypomethylation of 6q24, it manifests as hyperglycemia, dehydration, intrauterine growth restriction, umbilical hernia, and it is uncommon for it to present as diabetic ketoacidosis. Typically, the diabetes is transient, and genetic testing is necessary for diagnosis, treatment, and prognosis.
Objectives
To present the case of a 20-day-old patient diagnosed with diabetes due to maternal hypomethylation of 6q24, who initiates with an atypical presentation: severe diabetic ketoacidosis.
Methods
NA
Results
In-hospital management was performed with parenteral fluids and intravenous infusion of rapid-acting insulin, successfully resolving ketoacidosis within 72 hours. Subsequently, intermediate-acting insulin was indicated at a dosage of 0.5 U.I./kg/day, and the patient was discharged from the hospital at 30 days of age with private follow-up. A sample from the patient and her parents was sent to the genomics laboratory in Exeter, England, and a genetic report indicating transient neonatal diabetes due to maternal hypomethylation of 6q24 was received on day 109 of life. From day 122 of life, signs of remission were observed, and treatment was definitively discontinued at 138 days of life. Currently, the patient does not require insulin treatment, maintains a normal diet, demonstrates good weight gain, and exhibits normal neurodevelopment. Given the genetic diagnosis, there is a significant possibility of diabetes reactivation during puberty, thus continued follow-up will be maintained.
Conclusions
The mutation due to hypomethylation of 6q24 is a cause of transient diabetes that rarely presents with diabetic ketoacidosis. In our case, genetic diagnosis was facilitated by support from the aforementioned institution, allowing us to establish a more accurate prognosis for the future.