Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Nov 26, 2022; 10(33): 12247-12256
Published online Nov 26, 2022. doi: 10.12998/wjcc.v10.i33.12247
Unusual presentation of Loeys-Dietz syndrome: A case report of clinical findings and treatment challenges
Shely Azrad-Daniel, Corina Cupa-Galvan, Sion Farca-Soffer, Fernando Perez-Zincer, Maria Elena Lopez-Acosta
Shely Azrad-Daniel, Sion Farca-Soffer, Department of Internal Medicine, Hospital Angeles Lomas, Huixquilucan 52763, Mexico
Corina Cupa-Galvan, Department of Radiology, Hospital Angeles Lomas, Mexico 52763, Mexico
Fernando Perez-Zincer, Department of Hematology, Hospital Angeles Lomas, Mexico 52763, Mexico
Maria Elena Lopez-Acosta, Department of Gastroenterology-Endoscopy, Hospital Angeles Lomas, Mexico 52763, Mexico
Author contributions: Every author provided important information and worked for the elaboration of this case report in the following ways: Azrad-Daniel S performed the writing, bibliographic review, grammatical changes, translation and analysis of the case and gathered each author’s participation; Cupa-Galvan C carried out the patient´s embolectomy, analyzed and provided radiology images and helped in the bibliographic review; Farca-Soffer S and Perez-Zincer F collaborated in diagnosis, treatment and patient follow-up; Lopez-Acosta ME performed the colonoscopy, carried out biopsies, provided images and participated in the bibliographic review.
Informed consent statement: Informed written consent was obtained from the patient.
Conflict-of-interest statement: All authors report no relevant conflict 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: Shely Azrad-Daniel, MD, Doctor, Lecturer, Research Scientist, Department of Internal Medicine, Hospital Angeles Lomas, Vialidad de la baranca 240, Huixquilucan 52763, Mexico. shelyazrad@hotmail.com
Received: April 13, 2022
Peer-review started: April 13, 2022
First decision: June 16, 2022
Revised: June 21, 2022
Accepted: October 26, 2022
Article in press: October 26, 2022
Published online: November 26, 2022
Processing time: 223 Days and 11 Hours
Core Tip

Core Tip: Diagnosing and treating Loeys-Dietz syndrome within its many comorbidities is very challenging for most clinicians. Suspected Loeys-Dietz syndrome in a patient without aortic aneurysm should not be discarded. We describe a case to enhance the clinical suspicion of this genetic disease for proper management within a variety of medical specialties. The management and follow-up depend upon each patient and their manifestations.