CASE REPORT article

Front. Psychiatry

Sec. Psychopathology

Volume 16 - 2025 | doi: 10.3389/fpsyt.2025.1607003

Case report: recurrent catatonia in a patient with 17p13.3 microduplication syndrome

Provisionally accepted
Ilya QuerterIlya Querter1,2*Nika SchuermansNika Schuermans3Nele Van De VeldeNele Van De Velde2Cisse GeleynCisse Geleyn2Annelies DheedeneAnnelies Dheedene3Kurt AudenaertKurt Audenaert1,2Chris BaekenChris Baeken1,2Bert CallewaertBert Callewaert3Gilbert LemmensGilbert Lemmens1,2
  • 1Ghent University, Ghent, Belgium
  • 2Department of Psychiatry, Ghent University Hospital, Ghent, East Flanders, Belgium
  • 3Center for Medical Genetics, Ghent University Hospital, Ghent, East Flanders, Belgium

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Catatonia is a clinically significant syndrome with various etiologies, including genetic factors, that are increasingly recognized. We present a case of recurrent catatonia associated with 17p13.3 microduplication syndrome in a 47-year-old woman with a long-standing history of recurrent depressive episodes. At age 44, she experienced her first episode with psychotic and catatonic features, which required hospitalization. Over the next three years, she had four additional catatonic episodes. Four years after her initial presentation, she was diagnosed with 17p13.3 microduplication syndrome. This case emphasizes the importance of considering genetic testing for patients with recurrent catatonia, particularly those with a comorbid developmental disorder. Given the limited number of cases of 17p13.3 microduplication syndrome reported in the literature, we share these findings to encourage prompt genetic assessment in similar presentations. Clinicians treating patients with catatonia should recognize the prevalence of medical, and particularly genetic, disorders that increase susceptibility to catatonia. Conversely, clinicians working with patients who have genetically based neurodevelopmental syndromes should be aware of the challenges in diagnosing and treating catatonia. By identifying catatonia in this patient population, prompt and targeted interventions that may significantly reduce the disabling effects of catatonia can be initiated. This case also expands the known phenotypic spectrum of 17p13.3 microduplication syndrome and contributes to understanding the genetic factors involved in catatonia, though further research is needed to clarify this association.

Keywords: 17p13.3 microduplication syndrome 1, Catatonia2, depression3, case report4, Genetic assessment

Received: 06 Apr 2025; Accepted: 11 Jun 2025.

Copyright: © 2025 Querter, Schuermans, Van De Velde, Geleyn, Dheedene, Audenaert, Baeken, Callewaert and Lemmens. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Ilya Querter, Ghent University, Ghent, Belgium

Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

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