Work

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

Year: 2025

Type: article

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.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.71623

Authors: Shahab Noorian, Fatemeh Aghamahdi, Mahnaz Seifi Alan, Saeed Nikkhah, Hedieh Soltani

Institution: Alborz University of Medical Sciences

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,820