Teixeira de Castro Gonçalves Ortega AC, Amorim Moreira Alves G, Perera Molligoda Arachchige AS. Radiographic assessment of mucopolysaccharidoses: A pictorial review. World J Clin Pediatr 2025; 14(3): 102898 [DOI: 10.5409/wjcp.v14.i3.102898]
Corresponding Author of This Article
Arosh S Perera Molligoda Arachchige, MD, Emergency Service, GHOL-Hopital de Nyon, Chemin Monastier 10, Nyon 1260, Vaud, Switzerland. aroshperera@outlook.it
Research Domain of This Article
Radiology, Nuclear Medicine & Medical Imaging
Article-Type of This Article
Minireviews
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Pediatr. Sep 9, 2025; 14(3): 102898 Published online Sep 9, 2025. doi: 10.5409/wjcp.v14.i3.102898
Radiographic assessment of mucopolysaccharidoses: A pictorial review
Ana Claudia Teixeira de Castro Gonçalves Ortega, Gabriel Amorim Moreira Alves, Arosh S Perera Molligoda Arachchige
Ana Claudia Teixeira de Castro Gonçalves Ortega, Gabriel Amorim Moreira Alves, Faculty of Medicine, Humanitas University, Pieve Emanuele 20079, Milan, Italy
Arosh S Perera Molligoda Arachchige, Emergency Service, GHOL-Hopital de Nyon, Nyon 1260, Vaud, Switzerland
Co-first authors: Ana Claudia Teixeira de Castro Gonçalves Ortega and Gabriel Amorim Moreira Alves.
Author contributions: Perera Molligoda Arachchige AS designed the research study; Teixeira de Castro Gonçalves Ortega AC and Amorim Moreira Alves G performed the research; Perera Molligoda Arachchige AS analyzed the data and wrote the manuscript. All authors have read and approved the final manuscript.
Conflict-of-interest statement: The authors have no conflicts of interest to declare.
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/
Received: November 1, 2024 Revised: March 12, 2025 Accepted: March 24, 2025 Published online: September 9, 2025 Processing time: 227 Days and 12.3 Hours
Core Tip
Core Tip: This study emphasizes the critical role of radiographic imaging in diagnosing and managing mucopolysaccharidoses (MPS), a group of lysosomal storage disorders marked by skeletal abnormalities and multisystem involvement. Key innovations include identifying characteristic radiographic markers—such as the J-shaped sella turcica and odontoid hypoplasia—that are essential for early MPS detection and monitoring. The findings support the value of routine imaging in assessing the progression of skeletal deformities and guiding timely interventions, even as enzyme replacement therapies remain limited in reversing structural changes. This approach enhances both diagnostic precision and therapeutic outcomes, offering a roadmap for optimal care in MPS patients.
