Atteintes osseuses des mucopolysaccharidoses

Journeau, Pierre; Garin, C.; Polirsztok, Eva; Jouve, Jean-Luc

doi:10.1016/s0929-693x(14)72253-5

Cited by 7 publications

(2 citation statements)

References 19 publications

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“…The motion of the hand is limited by the infiltration of GAGs into the joint capsule, while the same kind of infiltration in the tendon sheath can cause stenosing tenosynovitis (trigger fingers). Trigger fingers at a paediatric age may be congenital when limited to the first finger; if other fingers are affected, an MPS diagnosis should be considered and examined in depth [ 11 ]. The treatment of trigger finger can be sometimes surgical, sometimes requiring not only flexor tendon pulley resection but also thorough cleaning of the tendon sheath with removal of GAG-infiltrated peritenonium.…”

Section: Introductionmentioning

confidence: 99%

“…Carpal tunnel syndrome is rare at a paediatric age, while it is present with higher prevalence in MPS I, II, and VI [ 11 ]. This manifestation is again linked to pathological tissue infiltration of the carpal tunnel, a narrow anatomical structure on the palm side of the wrist the walls of which are formed by carpal bones and transverse carpal ligament; the tunnel contains the flexor tendons of fingers and the median nerve [ 12 ].…”

Section: Introductionmentioning

confidence: 99%

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Orthopaedic challenges for mucopolysaccharidoses

et al. 2018

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Mucopolysaccharidoses (MPS) are a group of diseases characterized by abnormal accumulation of glycosaminoglycans (GAGs). Although there are differences among the various disease types, the osteoarticular system is always involved. The aim of the present study was to establish a framework for MPS-related orthopaedic manifestations and for their treatment. The authors, affiliated to three different Italian Orthopaedic Centres, report data taken from the literature reviewed in light of their accumulated professional experience. Bone alterations make up what is known as dysostosis multiplex, involving the trunk and limbs and with typical radiological findings. Joints are affected by pathological tissue infiltrations. The cervical spinal cord is involved, with stenosis and cervical and occipitocervical instability. In MPS there is a much higher incidence of scoliosis compared with healthy subjects without any particular distinctive feature. Kyphosis of the spine is more frequent and also more severe because of its possible neurological complications, and it is localized at the thoracolumbar level with a malformed vertebra at the top of the deformity. Evolving forms, and those associated with neurological damage, require anteroposterior spine fusion. The hip is invariably involved, with dysplasia affecting the femoral neck (coxa valga), the femoral epiphysis (loss of sphericity, osteonecrosis), and the femoral acetabulum which is flared. All these features explain the tendency to progressive hip migration. Genu valgum is often found (a deviation of the physiological axis with an obtuse angle opening laterally). This deformity is often localized at the proximal tibial metaphysis; it causes functional limitations and leads to an irregular erosion of the articular cartilage. In young patients who still have the growth plate, it is possible to execute a medial hemiepiphysiodesis, a temporary inhibition of cartilage growth, with progressive axis correction. In this paper, the characterisation of clinical features and the review of treatments are divided into separate sections based on the part of the body involved. The conclusions of each section are presented as a summary. One section discusses the high risk of anaesthesia-related complications requiring the collaboration of specifically trained personnel.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%