ArticleClinical case reports2025
A Novel EIF2AK3 Variant Causing Wolcott-Rallison Syndrome With Early Neonatal Diabetic Ketoacidosis as Initial Presentation: A Case Report.
Article in Clinical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- A Novel EIF2AK3 Variant Causing Wolcott-Rallison Syndrome With Early Neonatal Diabetic Ketoacidosis as Initial Presentation: A Case Report.Clinical case reports · 2025Article
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5 authors.
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Abstract
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.
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