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Wolcott–Rallison syndrome: late-onset diabetes, multiple epiphyseal dysplasia, and acute liver failure – a case report

  • Selçuk Teke ORCID logo EMAIL logo , Zarife Kuloğlu ORCID logo , Arzu Meltem Demir ORCID logo , Ceyda Tuna Kirsaçlioğlu ORCID logo , Hatice Mutlu Albayrak ORCID logo , Elif Özsu ORCID logo , İlkyaz Türktan ORCID logo , Serpil Özdemir ORCID logo , Ömer Suat Fitoz ORCID logo , Tanıl Kendirli ORCID logo , Serap Teber ORCID logo , Fatma Tuğba Eminoğlu ORCID logo and Aydan Kansu ORCID logo
Published/Copyright: May 26, 2025
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 38 Issue 8

Abstract

Objectives

Wolcott–Rallison syndrome (WRS) is an autosomal recessive multisystemic genetic disorder caused by homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 gene. It typically presents with neonatal onset insulin-dependent diabetes. Here, we report a 14-year-old male patient with WRS who presented with late-onset diabetes mellitus.

Case presentation

A 14-year-old male patient presented with acute liver failure secondary to acute gastroenteritis. On physical examination, signs of chronic malnutrition and muscle atrophy in the extremities were evident, accompanied by a waddling gait. Infectious, autoimmune, and metabolic diseases were excluded. Liver tests improved within 3 weeks with supportive treatment. Direct radiographs were consistent with multiple epiphyseal dysplasia. High blood glucose levels were observed at follow-up in the intensive care unit. At the 4-month follow-up, HbA1c increased to 55 mmol/mol (7.2 %) and basal insulin treatment was started at a dose of 0.4U/kg/day. Glycemic control was achieved after 6 months.

Conclusions

Diabetes typically manifests within the first 6 months of life, with a median age of 2.5 months, and has been observed in all patients with WRS reported in the literature. Our case is an interesting WRS patient whose diabetes started at the age of 14 years with a novel mutation.

Keywords: Wolcott–Rallison syndrome; acute liver failure; type 1 diabetes mellitus
Corresponding author: Selçuk Teke, Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine, Ankara University, Ankara, Türkiye, E-mail:

  1. Research ethics: The authors declare that the research presented in this manuscript adheres to the ethical principles. All procedures involving human participants were conducted in accordance with the ethical standards of the Ankara University Faculty of Medicine, Ankara, Türkiye and the Declaration of Helsinki (1964), as revised in 2013. IRB is not applicable.

  2. Informed consent: Informed consent was obtained from all individuals included in this study, or their legal guardians or wards.

  3. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  4. Use of Large Language Models, AI and Machine Learning Tools: None declared.

  5. Conflict of interest: All other authors state no conflict of interest.

  6. Research funding: None declared.

  7. Data availability: Not applicable.

References

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Received: 2025-03-02
Accepted: 2025-05-12
Published Online: 2025-05-26
Published in Print: 2025-08-26

© 2025 Walter de Gruyter GmbH, Berlin/Boston

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https://doi.org/10.1515/jpem-2025-0116
Keywords for this article
Wolcott–Rallison syndrome; acute liver failure; type 1 diabetes mellitus

Articles in the same Issue

  1. Frontmatter
  2. Editorial
  3. Endocrine treatment in Duchenne muscular dystrophy – current practices and future directions
  4. Reviews
  5. Pubertal induction therapy in pediatric patients with Duchenne muscular dystrophy
  6. Evaluating obesity and fat cells as possible important metabolic players in childhood leukemia
  7. Biological effects of recombinant human growth hormone therapy on metabolism in children with growth hormone deficiency: a review
  8. Original Articles
  9. The use of bisphosphonate and testosterone in young people with Duchenne muscular dystrophy: an international clinician survey
  10. Characterizing the metabolome of children with growth hormone deficiency
  11. Is L-dopa test effective in detecting adrenal insufficiency with preliminary diagnosis of growth hormone deficiency in children with short stature?
  12. Comparison of the clinical characteristics of children with Silver–Russell syndrome genetically confirmed or not and their response to growth hormone therapy: a national multicenter study
  13. Testicular adrenal rest tumors in Indonesian boys with congenital adrenal hyperplasia
  14. Oxidative stress in branched-chain organic acidemias using thiol-disulfide homeostasis
  15. Case Reports
  16. Delayed diagnosis of retroperitoneal paraganglioma in an 8-year-old boy with persistent hypertension: a case report and review of diagnostic challenges in pediatric secondary hypertension
  17. Pediatric iatrogenic Cushing’s syndrome: a series of seven cases induced by topical corticosteroid use
  18. Wolcott–Rallison syndrome: late-onset diabetes, multiple epiphyseal dysplasia, and acute liver failure – a case report
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