Orthopedic management of the extremities in patients with Morquio A syndrome.

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.PurposeThe 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

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose

OBJECTIVE: Mucopolysaccharidosis IVA (MPS IVA, or Morquio A syndrome) and VI (MPS VI, or Maroteaux-Lamy syndrome) are autosomal recessive lysosomal storage disorders. Skeletal abnormalities are common initial presenting symptoms and, when recognized early, may facilitate timely diagnosis and intervention, leading to improved patient outcomes. Patients with slowly progressing disease and nonclassic phenotypes can be particularly challenging to diagnose. The objective was to describe the radiographic features of patients with a delayed diagnosis of MPS IVA or VI. MATERIALS AND METHODS: This was a retrospective study. The records of 5 MPS IVA and 3 MPS VI patients with delayed diagnosis were reviewed. Radiographs were evaluated by a radiologist with special expertise in skeletal dysplasias. RESULTS: An important common theme in these cases was the appearance of multiple epiphyseal dysplasia (MED) with epiphyseal changes seemingly confined to the capital (proximal) femoral epiphyses. Very few patients had the skeletal features of classical dysostosis multiplex. CONCLUSIONS: Radiologists should appreciate the wide phenotypic variability of MPS IVA and VI. The cases presented here illustrate the importance of considering MPS in the differential diagnosis of certain skeletal dysplasias/disorders, including MED, some forms of spondylo-epiphyseal dysplasia (SED), and bilateral Perthes-like disease. It is important to combine radiographic findings with clinical information to facilitate early testing and accurate diagnosis

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.

Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests primarily as a progressive skeletal dysplasia. Spinal involvement is a major cause of morbidity and mortality in MPS IVA. Early diagnosis and timely treatment of problems involving the spine are critical in preventing or arresting neurological deterioration and loss of function. This review details the spinal manifestations of MPS IVA and describes the tools used to diagnose and monitor spinal involvement. The relative utility of radiography, computed tomography (CT) and magnetic resonance imaging (MRI) for the evaluation of cervical spine instability, stenosis, and cord compression is discussed. Surgical interventions, anaesthetic considerations, and the use of neurophysiological monitoring during procedures performed under general anaesthesia are reviewed. Recommendations for regular radiological imaging and neurologic assessments are presented, and the need for a more standardized approach for evaluating and managing spinal involvement in MPS IVA is addressed

Opsismodysplasia: Phosphate Wasting Osteodystrophy Responds to Bisphosphonate Therapy

We present two siblings affected with opsismodysplasia, a rare skeletal dysplasia caused by mutations in the INPPL1 gene. The skeletal findings include short stature with postnatal onset micromelia, marked platyspondyly, squared metacarpals, delayed skeletal ossification, metaphyseal cupping and postnatal micromelia. Respiratory compromise, delayed ambulation, and progressive lower extremity deformities are described. The severity of findings is variable. Renal phosphate wasting is associated with severe bone demineralization and a more severe phenotype. This report represents the first described cases of opsismodysplasia treated with intravenous bisphosphonate (pamidronate). Surgical management for lower extremity deformities associated with OPS is also reviewed

Orthopedic management of the extremities in patients with Morquio A syndrome.

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.PurposeThe 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

Spinal cord issues in adult patients with MPS: transition of care survey

12 páginasPurpose This study aims to raise awareness of the need for research and appropriate guidelines for managing spinal cord issues in adult patients with mucopolysaccharidosis (MPS) and transition of these patients from pediatric to adult care. Methods Pediatric/adult neurosurgeons, orthopedic spine surgeons, and treating physicians with expertise in metabolic disorders and spinal cord issues were invited to complete a survey to assess their experience with spinal cord problems in MPS and their opinion on transitioning routes from pediatric to adult care. Results Twenty specialists completed the survey; 16 had treated spinal cord issues in patients with MPS. Foramen magnum and cervical stenosis (87%), atlanto-axial instability (67%), and lumbar spine instability (33%) were the main spinal cord issues encountered; 28% had treated adult patients for one or more spinal cord issues. In 40% of cases, this concerned an intervention or procedures performed during childhood. The main specialist responsible for the care of adult patients with MPS differed considerably between institutions and included both pediatric and adult specialists (30% pediatric neurosurgeons, 10% pediatric spine orthopedic surgeons, 30% adult spine neurosurgeons, 20% general adult surgeons). The preferred option (> 50%) for the transition of care was an interdisciplinary team of pediatric and adult specialists

A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI

Cervical cord compression is a sequela of mucopolysaccharidosis VI, a rare lysosomal storage disorder, and has devastating consequences. An international panel of orthopedic surgeons, neurosurgeons, anesthesiologists, neuroradiologists, metabolic pediatricians, and geneticists pooled their clinical expertise to codify recommenda-tions for diagnosing, monitoring, and managing cervical cord compression; for surgical intervention criteria; and for best airway management practices during imaging or anesthesia. The recommendations offer ideal best prac-tices but also attempt to recognize the worldwide spectrum of resource availability. Functional assessments and clinical neurological examinations remain the cornerstone for identification of early signs ofmyelopathy, butmagnetic resonance imaging is the gold standard for identificationof cervical cord com-pression. Difficult airways of MPS VI patients complicate the anesthetic and, thus, the surgical management of cervical cord compression. All patients with MPS VI require expert airway management during any surgical pro-cedure. Neurophysiological monitoring of the MPS VI patient during complex spine or head and neck surgery is considered standard practice but should also be considered for other procedures performed with the patient under general anesthesia, depending on the lengthand type of theprocedure. Surgical interventionsmay include cervical decompression, stabilization, or both. Specific techniques vary widely among surgeons. The onset, presentation, and rate of progression of cervical cord compression vary among patients with MPS VI. The availability of medical resources, the expertise and experience of members of the treatment team, and the standard treatment practices vary among centers of expertise. Referral to specialized, experienced MPS treatment centers should be considered for high-risk patients and those requiring complex procedures. Therefore, the key to optimal patient care is to implement best practices through meaningful communication among treatment team members at each center and among MPS VI specialists worldwide

Problemas médicos únicos en pacientes adultos con mucopolisacarid

9 páginasLas mucopolisacaridosis son un grupo de enfermedades metabólicas hereditarias causadas por deficiencias en las enzimas involucradas en la degradación secuencial de los glicosaminoglicanos (GAG) que conducen a la acumulación de sustrato en diversos tejidos y órganos. La acumulación de GAG ​​puede causar retraso del crecimiento y daño progresivo a los sistemas respiratorio, cardiovascular, musculoesquelético, nervioso, gastrointestinal, auditivo y visual. En el pasado, pocas personas con mucopolisacaridosis fenotípica grave (MPS) alcanzaban la edad adulta. Sin embargo, mejores métodos de diagnóstico, atención multidisciplinaria y nuevas terapias han prolongado la vida útil, lo que ha llevado a que un número cada vez mayor de pacientes sobreviva más allá de la niñez. El creciente número de pacientes adultos con MPS plantea desafíos importantes para los médicos que pueden no estar familiarizados con las manifestaciones clínicas de MPS. Además, Dado que las nuevas intervenciones han cambiado la historia natural de estos trastornos, es difícil anticipar tanto el impacto en la esperanza de vida como otras complicaciones que pueden ocurrir a medida que estos pacientes envejecen. Debido a que los trastornos MPS son enfermedades de múltiples órganos, su manejo requiere un enfoque multidisciplinario coordinado. Aquí discutimos el patrón único de problemas médicos y la participación de múltiples órganos en pacientes adultos con MPS e identificamos los desafíos asociados con el manejo de MPS. Esta revisión se basa en la información de una reunión de investigadores expertos con especialistas en MPS celebrada del 2 al 4 de octubre de 2014 en Dublín, Irlanda, así como en búsquedas bibliográficas actuales centradas en MPS y adultos. Es difícil anticipar tanto el impacto en la esperanza de vida como otras complicaciones que pueden ocurrir a medida que estos pacientes envejecen. Debido a que los trastornos MPS son enfermedades de múltiples órganos, su manejo requiere un enfoque multidisciplinario coordinado. Aquí discutimos el patrón único de problemas médicos y la participación de múltiples órganos en pacientes adultos con MPS e identificamos los desafíos asociados con el manejo de MPS. Esta revisión se basa en la información de una reunión de investigadores expertos con especialistas en MPS celebrada del 2 al 4 de octubre de 2014 en Dublín, Irlanda, así como en búsquedas bibliográficas actuales centradas en MPS y adultos. Es difícil anticipar tanto el impacto en la esperanza de vida como otras complicaciones que pueden ocurrir a medida que estos pacientes envejecen. Debido a que los trastornos MPS son enfermedades de múltiples órganos, su manejo requiere un enfoque multidisciplinario coordinado. Aquí discutimos el patrón único de problemas médicos y la participación de múltiples órganos en pacientes adultos con MPS e identificamos los desafíos asociados con el manejo de MPS. Esta revisión se basa en la información de una reunión de investigadores expertos con especialistas en MPS celebrada del 2 al 4 de octubre de 2014 en Dublín, Irlanda, así como en búsquedas bibliográficas actuales centradas en MPS y adultos. Aquí discutimos el patrón único de problemas médicos y la participación de múltiples órganos en pacientes adultos con MPS e identificamos los desafíos asociados con el manejo de MPS. Esta revisión se basa en la información de una reunión de investigadores expertos con especialistas en MPS celebrada del 2 al 4 de octubre de 2014 en Dublín, Irlanda, así como en búsquedas bibliográficas actuales centradas en MPS y adultos. Aquí discutimos el patrón único de problemas médicos y la participación de múltiples órganos en pacientes adultos con MPS e identificamos los desafíos asociados con el manejo de MPS. Esta revisión se basa en la información de una reunión de investigadores expertos con especialistas en MPS celebrada del 2 al 4 de octubre de 2014 en Dublín, Irlanda, así como en búsquedas bibliográficas actuales centradas en MPS y adultos