Abstract
Objectives
To report an unusual case of Wolcott–Rallison syndrome (WRS) due to a novel homozygous missense mutation c.1805G>T (p.Gly602Val) in the Exon 11 of eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene.
Case presentation
A 2-month-old infant, born to a consanguineous marriage presented to PICU with the manifestation of severe diabetic ketoacidosis (severe hyperglycemia, pH 6.984 + ketones in urine). Genomic sequencing analyses detected a novel homozygous missense variation in the Exon 11 of the EIF2AK3 gene that resulted in the amino acid substitution of valine for glycine at codon 602 (p.Gly602Val). A diagnosis of Wolcott–Rallison syndrome was confirmed. He was treated with fluid therapy and regular insulin infusion. The purpose of this case report is to highlight the novel mutation in the Exon 11 of the EIF2AK3 gene and to raise awareness for screening of pathogenic genetic variants in the EIF2AK3 gene in all patients with neonatal diabetes mellitus.
Conclusions
In the evaluation of infants with diabetic ketoacidosis, genomic DNA sequencing analyses should be performed in all cases of neonatal diabetes mellitus for early diagnosis of Wolcott–Rallison syndrome.
Acknowledgments
We thank all residents and nursing staff posted in the Pediatric Intensive Care Unit.
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Research ethics: Not applicable.
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Informed consent: Informed consent was obtained from parents, or their legal guardians or wards.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Use of Large Language Models, AI and Machine Learning Tools: No use of AI or Chat GPT.
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Conflict of interest: The authos state no conflict of interest.
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Research funding: None declared.
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Data availability: The datasets generated and analyzed during the current study are available from the corresponding author on reasonable request.
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© 2025 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
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- Clinical insights of the TBX19 C.856 C>T variant: a case report and literature review on neonatal isolated ACTH deficiency
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Articles in the same Issue
- Frontmatter
- Review
- Prevalence of congenital hypothyroidism in infants of mothers with hypothyroidism: a meta-analysis
- Original Articles
- Pubertal characteristics, final height, and associated factors in patients with nonclassical congenital adrenal hyperplasia: a single center experience
- Serum α-Klotho and its association with testosterone in boys with central precocious puberty
- Bioelectrical impedance analysis and hormonal assessment in adolescents with pubertal gynecomastia
- The relationship between FSTL-1 (follistatin-related protein 1), FAM19A5 (family with sequence similarity 19, member A5) and CTRP-6 (C1q/TNF-related protein 6) levels and metabolic parameters in overweight children
- Role of hyperandrogenism on disordered eating behaviors in adolescents with PCOS and interplay with insulin resistance
- The impact of hepatic steatosis on epicardial adipose tissue in obese individuals
- Exploratory real-world experience with GLP-1 receptor agonists vs. metformin in youth with new-onset type 2 diabetes: a single-center retrospective study
- Characterization of monogenic diabetes among Sudanese children: a multi-center experience from a population with high consanguinity
- Short Communication
- Implementation and feasibility of a nutrition assessment for recently diagnosed youth with type 2 diabetes
- Case Reports
- Noonan syndrome and autoimmune hepatitis: patient report and literature review
- Adrenal oncocytoma: an unusual etiology of Cushing’s syndrome in an adolescent female
- Novel MCT8 mutation: diagnostic value of T3/T4 ratio
- Clinical insights of the TBX19 C.856 C>T variant: a case report and literature review on neonatal isolated ACTH deficiency
- Wolcott–Rallison syndrome due to a novel homozygous missense variation (p.Gly602Val) in the exon 11 of EIF2AK3 gene