Copyright
©The Author(s) 2026. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jan 26, 2026; 14(3): 117165
Published online Jan 26, 2026. doi: 10.12998/wjcc.v14.i3.117165
Published online Jan 26, 2026. doi: 10.12998/wjcc.v14.i3.117165
Cachexia as an unusual presentation of familial Mediterranean fever: A case report
Ahmed Mostafa Sira, Department of Pediatrics, Tanta General Hospital, Egyptian Ministry of Health and Population, Tanta 31511, Al Gharbīyah, Egypt
Samar Ahmed Shoeir, Mostafa Mohamed Sira, Department of Pediatric Hepatology, Gastro
Co-first authors: Ahmed Mostafa Sira and Samar Ahmed Shoeir.
Author contributions: Sira AM contributed to data curation, project administration, supervision; Sira AM and Shoeir SA contributed to follow-up and they contributed equally to this manuscript as co-first authors; Sira AM, Shoeir SA, and Sira MM contributed to conceptualization, investigation, methodology, writing the original draft; and all authors have read and approved the final manuscript.
Informed consent statement: Written informed consent was obtained from the participants’ legal guardians for publication of this report and any accompanying images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Mostafa Mohamed Sira, MD, Professor, Department of Pediatric Hepatology, Gastroenterology, and Nutrition, National Liver Institute, Menoufia University, Gamal Abdel Nasser Street, Shebin El-Koom 32511, Menoufia, Egypt.
Received: December 1, 2025
Revised: December 15, 2025
Accepted: January 6, 2026
Published online: January 26, 2026
Processing time: 53 Days and 9.9 Hours
Revised: December 15, 2025
Accepted: January 6, 2026
Published online: January 26, 2026
Processing time: 53 Days and 9.9 Hours
Core Tip
Core Tip: Familial Mediterranean fever is classically defined by recurrent episodes of spontaneous serositis with fever, but some children present with significant inflammation despite lacking these typical features. This case describes a 9-year-old girl with cachexia, debilitating myalgia, and recurrent fever, an atypical phenotype that created substantial diagnostic difficulty, especially with negative MEditerranean FeVer gene mutation testing. Her course underscores how familial Mediterranean fever may manifest beyond standard criteria and why clinicians must look beyond genetic results. A detailed history and careful clinical assessment were ultimately key to recognizing the disease.