Abstract
BACKGROUND/OBJECTIVE: Neonatal diabetes is a monogenic type of diabetes mellitus. It arises at the first 6 months of age and can be classified as permanent or transient. There are limited cases of neonates with DKA who have heterozygous mutations in INS and PKHD1 genes, especially in Saudi Arabia. We present a case of neonatal diabetes with diabetic ketoacidosis (DKA) born to consanguineous parents in Saudi Arabia. This study aims to highlight the importance of the genetic mutations associated with neonatal diabetes and identify the clinical manifestation features of neonatal diabetes. CASE REPORT: A six-month-old boy born to consanguineous parents with a family history of neonatal diabetes was diagnosed with DKA. The case was presented to the emergency department (ED) with vomiting and increased urination for 3 days. The child showed signs of severe dehydration and severe metabolic acidosis with a high anion gap and elevated hemoglobin A1C level (16.3%) was reported. According to the genetic test, the patient had an INS and PKHD1gene mutation. The treatment was initiated according to the DKA protocol, and then he received subcutaneous insulin. DISCUSSION: Neonatal diabetes is a condition caused by several gene mutations. In this case, heterozygous mutations in INS and PKHD1 genes were reported. The type of gene mutation could predict neonatal diabetes type, whether permanent or transient, and its response to treatment. CONCLUSION: Genetic testing for neonates soon after birth is suggested for the early detection and classification of neonatal diabetes, especially among children with a family history of neonatal diabetes.