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Licensed Unlicensed Requires Authentication Published by De Gruyter October 13, 2021

Wolfram-like syndrome – another face of a rare disease in children

  • Mariusz Smetek , Karolina Gadzalska , Paulina Jakiel , Julia Grzybowska , Malgorzata Mysliwiec , Maciej Borowiec and Agnieszka Zmysłowska ORCID logo EMAIL logo



The presence of two pathogenic variants in the WFS1 gene leads to the occurrence of a rare genetic disease in children – Wolfram syndrome (WFS), which includes insulin-dependent diabetes mellitus (DM), optic atrophy (OA), diabetes insipidus (DI), and deafness (D). However, the presence of a single mutation in the WFS1 gene results in a number of other autosomal dominant inherited diseases, including Wolfram-like syndrome (WFS-like).

Case presentation

A 10-year-old boy was referred to the Genetic Outpatient Clinic with suspected WFS based on the coexistence of D, type 1 DM, short stature, and abnormalities in ophthalmologic examination (astigmatism and OA due to the optical coherence tomography result). The genetic analysis did not confirm WFS syndrome in the boy but identified a single likely pathogenic de novo variant in the WFS1 gene, which confirmed WFS-like syndrome.


Currently, the patient is under the care of an endocrinologist, diabetologist, ophthalmologist, audiologist, and also psychologist because of mood disorders.

Corresponding author: Prof. Agnieszka Zmysłowska, MD, PhD, Department of Clinical Genetics, Medical University of Lodz, Pomorska Str. 251, 92-213, Lodz, Poland, Phone: +48 42 272 57 67, E-mail:

  1. Research funding: None declared.

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

  3. Competing interests: Authors state no conflict of interest.

  4. Informed consent: Informed consent was obtained from the parents of a patient included in this study.

  5. Ethical approval: Not applicable.


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Received: 2021-05-18
Accepted: 2021-09-27
Published Online: 2021-10-13
Published in Print: 2022-01-27

© 2021 Walter de Gruyter GmbH, Berlin/Boston

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