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06.11.2023 | Case Report

Capsular and retinaculum thickening in type II mucopolysaccharidosis: a novel MRI finding

verfasst von: Vitor Neves Sato, Tatiane Lumi Moriwaki, Adham do Amaral e Castro, Artur da Rocha Correa Fernandes, Julio Brandao Guimaraes

Erschienen in: Skeletal Radiology | Ausgabe 6/2024

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Abstract

Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage diseases caused by a deficiency of glycosaminoglycan (GAG) catalytic enzymes, resulting in an accumulation of unprocessed or partly degraded GAGs in different tissues, including bones and joints. Notably, skeletal and joint abnormalities may be the first complaint that prompts patients to seek medical attention, especially in the milder forms of the disease. To our knowledge, there are no prior imaging reports that have documented capsuloligamentous thickening in patients with MPS on MRI. In this study, we present four cases of patients with clinically and genetically confirmed diagnosis of type II MPS, encompassing seven MRI examination of different joints, including cervical spine, hip, wrist, knee, and shoulder. All of the patients were male, aged between 14 and 35 years, and exhibited varying degrees of joint stiffness in the clinical examination and carpal tunnel syndrome in cases of the wrist joint was affected. None of the patients had a history of surgical procedures on the affected joint, other metabolic or deposit diseases, or sports activity practice. The MRI revealed significant capsuloligamentous and retinaculum thickening, up to eight times greater than the normal capsular thickness reported in the literature.
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Metadaten
Titel
Capsular and retinaculum thickening in type II mucopolysaccharidosis: a novel MRI finding
verfasst von
Vitor Neves Sato
Tatiane Lumi Moriwaki
Adham do Amaral e Castro
Artur da Rocha Correa Fernandes
Julio Brandao Guimaraes
Publikationsdatum
06.11.2023
Verlag
Springer Berlin Heidelberg
Erschienen in
Skeletal Radiology / Ausgabe 6/2024
Print ISSN: 0364-2348
Elektronische ISSN: 1432-2161
DOI
https://doi.org/10.1007/s00256-023-04499-x

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