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

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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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Authors and Affiliations

  1. Department of Radiology, Escola Paulista de Medicina/Universidade Federal de São Paulo (UNIFESP), Rua Napoleão de Barros, 800 – Vila Clementino, São Paulo, SP, 04024-002, Brazil

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

  2. Division of Musculoskeletal Radiology, Diagnóstico das Américas (DASA), São Paulo, SP, Brazil

    Vitor Neves Sato & Tatiane Lumi Moriwaki

  3. Department of Radiology, Hospital Do Coração (HCor) and Teleimagem, São Paulo, SP, Brazil

    Vitor Neves Sato

  4. Department of Radiology, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil

    Adham do Amaral e Castro

  5. Radiology Department – Grupo de Radiologia e Diagnóstico por Imagem da Rede D’or, São Paulo, SP, Brazil

    Artur da Rocha Correa Fernandes

  6. Department of Musculoskeletal Radiology, Fleury Medicina E Saúde, São Paulo, SP, Brazil

    Julio Brandao Guimaraes

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  1. Vitor Neves Sato
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Sato, V.N., Moriwaki, T.L., do Amaral e Castro, A. et al. Capsular and retinaculum thickening in type II mucopolysaccharidosis: a novel MRI finding. Skeletal Radiol 53, 1211–1217 (2024). https://doi.org/10.1007/s00256-023-04499-x

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