Accessible Requires Authentication Published online 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

Abstract

Objectives

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.

Conclusions

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

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