A Novel EIF2AK3 Variant Causing Wolcott–Rallison Syndrome With Early Neonatal Diabetic Ketoacidosis as Initial Presentation: A Case Report

Wolcott–Rallison syndrome (WRS) is a rare genetic autosomal recessive inherited disorder with three main clinical features: neonatal diabetes mellitus (NDM), bone dysplasia, and acute liver dysfunction. The aim of the study is to report a rare case of WRS with genetic analysis. We report a 1‐year‐old male patient with consanguineous parents who was referred due to weakness and vomiting at 3 months old and was admitted due to diabetic ketoacidosis with severe acidosis and hyperglycemia without any other skeletal, hepatic, or renal presentations and a novel homozygous c.2825A>C (p.Asn942Thr) variant in exon 14 of the EIF2AK3 gene on chromosome 2. Genetic testing is recommended for distinguishing WRS from other causes of neonatal insulin‐dependent diabetes, and early diagnosis in order to develop timely and appropriate treatment, especially rapid detection of the acute liver failure as the most life‐threatening complication.