The Lower Extremity in Morquio Syndrome

Department of Orthopaedics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
Journal of pediatric orthopedics (Impact Factor: 1.47). 07/2012; 32(5):534-40. DOI: 10.1097/BPO.0b013e318259fe57
Source: PubMed


The modalities and results of surgical intervention in the lower extremity in children with Morquio syndrome type A [mucopolysaccharidosis-IV (MPS-IVA)] have not been well described. The aims of this study are to define the lower extremity deformities, and describe the results of intervention in MPS-IVA patients.
Retrospective chart and radiograph review of 23 MPS-IVA patients with a minimum follow-up of >2 years. Patients were divided into no intervention and surgical groups. Demographic data, surgical details, clinical results, and complications were recorded. Standard lower extremity radiographic measurements made on standing radiographs at initial presentation, preoperatively (in surgical group), and at the final follow-up were used to study the deformities and effects of hip, knee, and ankle surgery. Descriptive statistics were performed.
There were 11 boys and 12 girls. The average age at presentation was 6.8±3.4 years and at the last visit was 13.5±5 years with a mean follow-up of 6.7±3.7 years. Progressive hip subluxation, genu valgum, and ankle valgus were observed in all patients without intervention. Twenty patients had a total of 159 lower extremity surgical procedures (average, 8 procedures per patient). There were 61 hip, 78 knee, and 20 ankle procedures. Surgery resulted in improvement of the center edge angle, femoral head coverage, lateral distal femoral angle, medial proximal tibial angle, tibiofemoral angle, and lateral distal tibial angle. Mechanical axis of the lower extremities improved after intervention. Six patients (12 hips) had recurrence of hip subluxation after acetabular osteotomies and/or femoral varus derotation osteotomy, and 8 patients (16 knees) had postoperative genu valgum recurrence requiring subsequent intervention. There was no recurrent hip subluxation after shelf acetabuloplasty.
Progressive hip subluxation, genu valgum, and ankle valgus were seen and often needed surgery. After shelf acetabuloplasty and varus derotation osteotomy, there was no recurrent hip subluxation. Recurrence after genu valgum correction was common.
Level IV, therapeutic case series.

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    • "(C) Knee valgus in a 7 year-old Morquio A patient. Reproduced from Dhawale et al. [Dhawale et al., 2012] "
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    ABSTRACT: 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.
    American Journal of Medical Genetics 01/2015; Part A(9999A):1-15. DOI:10.1002/ajmg.a.36833 · 3.23 Impact Factor
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    • "Spinal involvement is common and can lead to irreversible neurological damage and premature death [11]. Progressive lower extremity involvement and increasing muscle weakness compromise mobility; consequently, many patients require the use of walking aids or become wheelchair-bound by adolescence [7–10]. The hands are frequently involved and gradual declines in grip strength, wrist stability and fine motor skills lead to significant functional compromise [12]. "
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    ABSTRACT: Abstract BackgroundMusculoskeletal involvement in Morquio A syndrome (mucopolysaccharidosis IVA; MPS IVA) contributes significantly to morbidity and mortality. While the spinal manifestations of the disorder have received considerable attention in the literature, there have been few reported studies to date to guide the management of the orthopedic problems associated with the lower and upper extremities.Purpose The objective was to develop recommendations for the management of the extremities in patients with Morquio A syndrome.MethodsA group of specialists in orthopedics, pediatrics and genetics with experience in the management of Morquio A patients convened to review and discuss current clinical practices and to develop preliminary recommendations. Evidence from the literature was retrieved. Recommendations were further refined until consensus was reached.Results and conclusionsThis present article provides a detailed review and discussion of the lower and upper extremity deformities in Morquio A syndrome and presents recommendations for the assessment and treatment of these complications. Key issues, including the importance of early diagnosis and the implications of medical therapy, are also addressed. The recommendations herein represent an attempt to develop a uniform and practical approach to managing patients with Morquio A syndrome and improving their outcomes.
    Journal of Children s Orthopaedics 07/2014; 8(4). DOI:10.1007/s11832-014-0601-4
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    • "The risk of cervical spinal cord compression poses a dilemma when the need for intubation arises in patients with cervical instability, as there is a significant risk of iatrogenic damage to the cervical cord at the time of intubation. The risk is further compounded as most patients require multiple surgeries and undergo major surgical interventions by the age of 10, with the neck being the most common musculoskeletal surgical site.6,11 Magnetic resonance imaging is used to screen for involvement of the cervical spine and prophylactic occipito-cervical fusion has been recommended to prevent the associated complications.12–14 "
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    ABSTRACT: Morquio A syndrome is a lysosomal storage disease associated with mucopolysaccharidosis. It is caused by a deficiency of the lysosomal enzyme, N-acetylgalactosamine-6-sulfate sulfatase, which leads to accumulation of keratan sulfate and condroitin-6 sulfate in multiple organs. Patients present with multisystemic complications involving the musculoskeletal, respiratory, cardiovascular, and digestive systems. Presently, there is no definitive cure, and current management options are palliative. Enzyme replacement therapy and hematopoietic stem cell therapy have been proven effective in certain lysosomal storage diseases, and current investigations are underway to evaluate the effectiveness of these therapies and others for the treatment of Morquio A syndrome. This review discusses the current and emerging treatment options for Morquio A syndrome, citing examples of the treatment of other mucopolysaccharidoses.
    Therapeutics and Clinical Risk Management 02/2013; 9(1):45-53. DOI:10.2147/TCRM.S24771 · 1.47 Impact Factor
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