A Rare Duplication in the PLAG1 Gene: A Case of Neonatal Diabetes

Background: Neonatal diabetes mellitus (NDM) is a rare form of diabetes. It occurs due to several different genetic abnormalities, and two main groups have been recognized, transient and permanent. Although insulin is often used as a first-line treatment for transient types, this mode of therapy is not helpful in some cases. Case Report: We present a newborn case treated with oral sulfonylurea diagnosed as transient type NDM in the first days of life. The chromosomal microarray analysis detected a rare de novo duplication of 3383 kb in the 6q24.1q24.2 region. Conclusion: An oral sulfonylurea treatment is a useful treatment option in the management of neonatal diabetes cases. This report describes a rare deletion that has not been described in the literature to date. Advanced genetic evaluation is vital for early diagnosis and intervention in patients with chromosome 6q duplication.

Automated summary

Neonatal diabetes mellitus is a rare form of diabetes caused by various genetic abnormalities, with oral sulfonylurea being a useful treatment option. This report discusses a rare chromosomal defect not previously documented in the literature, highlighting the importance of early genetic evaluation.