Different clinical entities of the same mutation: a case report of three sisters with Wolfram syndrome and efficacy of dipeptidyl peptidase-4 inhibitor therapy

Gurkan Tarcin; Hande Turan; Aydilek Dagdeviren Cakir; Yavuz Ozer; Ayca Aykut; Asude Alpman Durmaz; Oya Ercan; Olcay Evliyaoglu

doi:10.1515/jpem-2020-0699

Article

Different clinical entities of the same mutation: a case report of three sisters with Wolfram syndrome and efficacy of dipeptidyl peptidase-4 inhibitor therapy

Gurkan Tarcin , Hande Turan , Aydilek Dagdeviren Cakir , Yavuz Ozer , Ayca Aykut , Asude Alpman Durmaz , Oya Ercan and Olcay Evliyaoglu

Published/Copyright: April 21, 2021

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 34 Issue 8

Abstract

Objectives

Wolfram syndrome (WS) is a rarely seen autosomal recessive multisystem neurodegenerative disorder caused by mutations in the WFS1 gene.

Case Presentation

Three sisters with WS had diabetes mellitus (DM) at 4 years of age and optic atrophy. In addition, the first case had hearing impairment, and the second case had diabetes insipidus and urinary incontinence. Linagliptin was administered to the first case as add-on therapy to intensive insulin treatment 15 years after the onset of DM, and her insulin need showed a dramatic decrease. The third case had a remission phase one month after the onset of DM.

Conclusions

Even in cases with the same mutation, symptoms and findings may widely vary in WS. Remission of diabetes has rarely been reported in WS. Also, this report describes the first trial of a dipeptidyl peptidase-4 inhibitor in a patient with WS which provided a decrease in exogenous insulin need.

Keywords: DIDMOAD; dipeptidyl peptidase-4; Wolfram

Corresponding author: Gurkan Tarcin, Department of Pediatric Endocrinology, Istanbul University-Cerrahpasa Cerrahpasa Faculty of Medicine, Istanbul, Turkey, E-mail: gurkantarcin@hotmail.com

Acknowledgments

None.

Research funding: None declared.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Informed consent: Written informed consent was obtained from the patients’ parents and the first patient who was above 18 years of age for publication of the case details.
Ethical approval: This is a case report and hence there is no research or Institutional Review Board approval required.

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Received: 2020-12-09

Accepted: 2021-04-04

Published Online: 2021-04-21

Published in Print: 2021-08-26

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Articles in the same Issue

https://doi.org/10.1515/jpem-2020-0699

Keywords for this article

DIDMOAD; dipeptidyl peptidase-4; Wolfram