ORIGINAL RESEARCH article
Front. Pediatr.
Sec. Pediatric Neurology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1607213
PURA syndrome -a genetic cause of a neurodevelopmental disorder -case report
Provisionally accepted
- 1Department of Otolaryngology, Medical University in Gdańsk, Gdansk, Poland
- 2Department of Anesthesiology and Intensive Care, Copernicus Hospital, Gdańsk, Poland, Gdansk, Poland
- 3Student of Department of Surgery, Faculty of Medicine, Collegium Medicum, University of Rzeszów, Rzeszów, Poland
- 4Department of Orthopedic and Spinal Surgery, Medical University of Gdańsk, Poland, Gdańsk, Poland
- 5Department of Surgery, Faculty of Medicine, Collegium Medicum, University of Rzeszów, Rzeszów, Poland
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Introduction: PURA syndrome is a rare genetic disorder first described in the medical literature in 2014. It is caused by pathogenic variants in the PURA gene, which is located on chromosome 5. The PURA gene is crucial for the production of the pur-α protein, which is expressed in all tissues, including the nervous system, muscles, and blood.The pur-α protein plays a vital role in normal brain development. The estimated incidence of PURA syndrome is 1 in 1,000,000, and as of 2024, approximately 706 cases of the syndrome have been identified worldwide. Aim of study:The aim of the study was to present a case description of PURA syndrome and the genetic basis of the neurodevelopmental disorder in a 15-year-old girl. Case report: This manuscript presents the case of a 15-year-old girl of Polish descent diagnosed with PURA syndrome through genetic testing. She was admitted to the Department of Orthopedics and Spine Surgery at the Medical University of Gdansk for surgical treatment of advanced idiopathic scoliosis caused by a postural defect. Conclusion: PURA syndrome is a rare genetic condition that requires further research and observation. Although it shares many clinical features with other neurological disorders, certain symptoms-such as speech disorders, the ability to follow and execute simple commands, and an excessive acoustic reaction to surprises-should raise suspicion of this condition. These indicators should prompt genetic testing for confirmation and the implementation of appropriate multidisciplinary care for the patient.
Keywords: PURA syndrome, PURA gene, Neurodevelopment disorders, genetic disease, Genetic defect
Received: 07 Apr 2025; Accepted: 19 Jun 2025.
Copyright: © 2025 Kobak, Szczupak, Czerkiewicz, Bielocerkowski and Krupa-Nurcek. 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: Sabina Krupa-Nurcek, Department of Surgery, Faculty of Medicine, Collegium Medicum, University of Rzeszów, Rzeszów, Poland
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