RESUMO
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.
Assuntos
Síndrome do Túnel Carpal , Artropatias , Mucopolissacaridoses , Mucopolissacaridose I , Humanos , Masculino , Adolescente , Adulto Jovem , Adulto , Feminino , Mucopolissacaridoses/diagnóstico por imagem , Mucopolissacaridoses/complicações , Artropatias/etiologia , Imageamento por Ressonância Magnética , Vértebras Cervicais , Mucopolissacaridose I/complicações , Mucopolissacaridose I/diagnósticoRESUMO
Soccer is the most popular sport worldwide, and it is associated with high injury rates, with most of these injuries occurring in the lower extremities. Particularly, in youth soccer players with immature skeleton, the physeal plate is two to five times weaker than the surrounding fibrous structures, and therefore more vulnerable to injury. The physeal plate consists of epiphyses and apophyses, with the former serving as tendon attachment sites and being subject to traction forces. There are two types of apophyseal injury: (i) apophyseal avulsion, which consists of an acute separation across the physeal plate; and (ii) apophysitis, an injury caused by chronic and repetitive contraction of musculotendon unit, leading to inflammation of the growth plate cartilage. Apophyses of the hip and pelvis are the most commonly injured in youth soccer players, due to vigorous contractions during sports activities and the fact that they tend to fuse later compared to other epiphyseal centers, making them more susceptible to injury. In this review, we will discuss the anatomy of lower limb apophyses and clinical and imaging findings of apophyseal injuries in youth soccer players, as well as briefly review treatment options and complications.