[Permanent neonatal diabetes mellitus in a young Ukrainian child]

Area of Science:

• Endocrinology
• Genetics
• Pediatrics

Background:

• Diabetes mellitus is a global chronic metabolic disease with increasing incidence in children.
• While Type 1 and Type 2 diabetes are more common, rare monogenic forms are increasingly recognized.
• Neonatal diabetes, diagnosed under six months, represents a small fraction of pediatric diabetes cases.

Observation:

• A case of permanent neonatal diabetes in a Ukrainian child is presented.
• The diagnosis was suspected due to persistent hyperglycemia requiring insulin therapy in an infant.
• Genetic analysis identified a missense mutation in the EIF2AK3 gene, specifically in exon 15.

Findings:

• The identified EIF2AK3 gene mutation is associated with Wolcott-Rallison Syndrome.
• This represents the first reported case of this specific genetic cause of permanent neonatal diabetes in Ukraine.
• The findings confirm the genetic basis of this rare form of diabetes.

Implications:

• Healthcare providers should consider permanent neonatal diabetes in infants with persistent hyperglycemia.
• Early genetic diagnosis is crucial for appropriate management and understanding of rare diabetes forms.
• This case contributes to the understanding of monogenic diabetes and its prevalence in Eastern Europe.