Total knee replacements in a patient with the Morquio syndrome

Atinga, Mordicai; Hamer, A. J.

doi:10.1302/0301-620x.90b12.20641

Cited by 12 publications

(6 citation statements)

References 5 publications

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“…Total knee arthroplasty has been reported for patients with severe degenerative arthritis. In these cases, significant lateral release and allograft augmentation may be required [172,173]. …”

Section: Therapy and Managementmentioning

confidence: 99%

Mucopolysaccharidosis IVA and glycosaminoglycans

Khan

Alméciga-Díaz

Sawamoto

et al. 2017

Molecular Genetics and Metabolism

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Mucopolysaccharidosis IVA (MPS IVA; Morquio A: OMIM 253000) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to accumulation of specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfate (KS). C6S and KS are mainly produced in the cartilage. Therefore, the undegraded substrates are stored primarily in cartilage and in its extracellular matrix (ECM), leading to a direct impact on cartilage and bone development, and successive systemic skeletal dysplasia. Chondrogenesis, the earliest phase of skeletal formation, is maintained by cellular interactions with the ECM, growth and differentiation factors, signaling pathways, and transcription factors in a temporal-spatial manner. In patients with MPS IVA, the cartilage is disrupted at birth as a consequence of abnormal chondrogenesis and/or endochondral ossification. The unique skeletal features are distinguished by a disproportional short stature, odontoid hypoplasia, spinal cord compression, tracheal obstruction, pectus carinatum, kyphoscoliosis, platyspondyly, coxa valga, genu valgum, waddling gait, and laxity of joints. In spite of many descriptions of these unique clinical features, delay of diagnosis still happens. The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge. In this review article, we comprehensively describe historical aspect, property of GAGs, diagnosis, screening, pathogenesis, and current and future therapies of MPS IVA.

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Section: Therapy and Managementmentioning

confidence: 99%

Mucopolysaccharidosis IVA and glycosaminoglycans

Khan

Alméciga-Díaz

Sawamoto

et al. 2017

Molecular Genetics and Metabolism

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“…Correction of knee valgus using guided growth (8-plate hemiepiphysiodesis) is effective in the growing child and may prevent hip problems and ankle valgus at a later age [Dhawale et al, 2012 ]. Knee osteotomy or knee arthroplasty can be an option for older patients [Atinga and Hamer, 2008 ]. Ankle valgus can generally be managed by orthotics, but may sometimes require surgical correction (e.g., guided growth or osteotomy) [Dhawale et al, 2012 ].…”

Section: Symptom-based Managementmentioning

confidence: 99%

International guidelines for the management and treatment of Morquio A syndrome

Hendriksz

Berger

Giugliani

et al. 2014

American J of Med Genetics Pt A

112

136

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Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired vision, hearing loss, and dental problems. The clinical presentation, onset, severity and progression rate of clinical manifestations of Morquio A syndrome vary widely between patients. Because of the heterogeneous and progressive nature of the disease, the management of patients with Morquio A syndrome is challenging and requires a multidisciplinary approach, involving an array of specialists. The current paper presents international guidelines for the evaluation, treatment and symptom-based management of Morquio A syndrome. These guidelines were developed during two expert meetings by an international panel of specialists in pediatrics, genetics, orthopedics, pulmonology, cardiology, and anesthesia with extensive experience in managing Morquio A syndrome. © 2014 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc.

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“…The worsening of the deformity can lead to the development of symptomatic osteoarthritis requiring prosthetic replacement. There are only a few reports on this subject in the literature; however, they seem to indicate that these patients tend to require custom-made implants [ 37 , 38 ].…”

Section: Introductionmentioning

confidence: 99%

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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Total knee replacements in a patient with the Morquio syndrome

Cited by 12 publications

References 5 publications

Mucopolysaccharidosis IVA and glycosaminoglycans

Mucopolysaccharidosis IVA and glycosaminoglycans

International guidelines for the management and treatment of Morquio A syndrome

Orthopaedic challenges for mucopolysaccharidoses

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