Evaluation of spinal involvement in children with mucopolysaccharidosis VI: the role of MRI

Bulut, Elif; Pektas, Emine; Sivri, Hatice Serap; Bilginer, Burçak; Umaroğlu, Mutlu; Özgen, Burçe

doi:10.1259/bjr.20170744

Cited by 8 publications

(11 citation statements)

References 23 publications

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“…Another point that must be considered is the radiological findings that have been reported in some studies of MRI in patients with MPS type VI. Compression of the spinal cord -especially in the cervical region -is a serious complication of those patients and usually arises from stenosis of the spinal canal, secondary to malformations of the spine and base of the skull, as well as the accumulation of GAG in the soft tissues around the spinal cord, resulting in myelopathy or myelomalacia 13,14 .…”

Section: Discussionmentioning

confidence: 99%

“…Compression of the cervical cord affects patients aged one year and includes clinical signs such as weakness, paresthesia, difficulty in walking, and abnormal evoked potentials 13,14 . Although no clinical investigations have been carried out on patients in this regard, it may be a factor that could justify the findings of the current study regarding gait changes.…”

Section: Discussionmentioning

confidence: 99%

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Knee and ankle disorders during functional gait in mucopolysaccharidosis type VI

et al. 2021

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To evaluate knee and ankle disorders during functional gait assessment in individuals with Mucopolysaccharidosis type VI (MPS VI). 19 subjects were included in this cross-sectional study and allocated in three groups according to age: Children Group (n=11); Adolescent Group (n=4); and Adult Group (n=4). Subphases of one gait cycle were analyzed: Initial contact; Medium support, and Pre-Balance. All volunteers with MPS VI presented greater knee and ankle flexion angles, in all gait subphases, when compared to the normal values defined by literature (p<0.05). Initial contact subphase: knee flexion angle ranging from 8.5º to 15º; Ankle = Child Group −23.73º ± 8.53º; Adolescent Group = −25º ± 11.22º; Adult Group = −27.75º ± 3.3º. Medium support subphase: Knee = Child Group 19.64º ± 10.47º; Adolescent Group 16.75º ± 10.34º; Adult Group = 21.25º ± 12.84º. Ankle = Child Group −18.82º ± 8.91º ± 8.53º; Adolescent Group = −16.5º ± 9.33º; Adult Group = −22.25º ± 4.19º. Pre-Balance subphase: Knee = Child Group 22.72º ± 13.49º; Adolescent Group 21.25º ± 7.97º; Adult Group = 27º ± 16.27º. Ankle = Child Group -15º ± 9.76º; Adolescent Group = −15.75º ± 5.31º; Adult Group = −14.75º ± 3.86º. In this study, MPS VI individuals presented hyperflexion of knee and ankle as the main joint disorders during functional gait, regardless of age.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Knee and ankle disorders during functional gait in mucopolysaccharidosis type VI

et al. 2021

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“…LCS in MPS is less common than cervical spine pathologies, however should be considered in MPS patients who present with LCS symptoms, typically at a younger age than the non-MPS population (>70 years). Similar to cervical cord stenosis, LCS occurs due to GAG accumulation in ligaments and soft tissue, aggravated by facet join hypertrophy and disc degeneration, as well as MPS related bony deformity due to scalloping and beaking of bone edges ( 221 ). LCS in MPS will present as the non-MPS population, with lower back pain, lower limb claudicant pain and bladder or bowel dysfunction, although it should be noted that claudicant pain will only be detected in MPS patients able to mobilize for a prolonged period ( 18 ).…”

Section: Neurosurgical Issuesmentioning

confidence: 99%

Non-cardiac Manifestations in Adult Patients With Mucopolysaccharidosis

Stępień

Bentley

Chen

et al. 2022

Front. Cardiovasc. Med.

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Mucopolysaccharidoses (MPS) are a heterogeneous group of disorders that results in the absence or deficiency of lysosomal enzymes, leading to an inappropriate storage of glycosaminoglycans (GAGs) in various tissues of the body such as bones, cartilage, heart valves, arteries, upper airways, cornea, teeth, liver and nervous system. Clinical manifestations can become progressively exacerbated with age and affect their quality of life. Developments in advanced supportive treatment options such as enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT) may have improved patients' life span. Adult MPS patients require specialist clinical surveillance long-term. In many cases, in addition to the MPS-related health problems, they may develop age-related complications. Considering the complexity of their clinical manifestations and lack of guidelines on the management of adult MPS disorders, multispecialty and multidisciplinary teams' care is essential to diagnose and treat health problems that are likely to be encountered. This review presents non-cardiac clinical manifestations, their pathophysiology, management and long-term outcomes in adult MPS patients.

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“…In addition to these factors, developmental canal stenosis related to bone deformity may largely explain LCS in patients with MPS. Bone deformity in lumbar lesions includes posterior scalloping and anterior beaking caused by GAG accumulation in the superior and inferior cartilaginous plates, upon which vertebral body growth depends [56].…”

Section: Lumbar Canal Stenosismentioning

confidence: 99%

Surgical Management of Spinal Disorders in People with Mucopolysaccharidoses

Terai

Nakamura

2020

IJMS

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Mucopolysaccharidoses (MPS) are a group of inherited, multisystem, lysosomal storage disorders involving specific lysosomal enzyme deficiencies that result in the accumulation of glycosaminoglycans (GAG) secondary to insufficient degradation within cell lysosomes. GAG accumulation affects both primary bone formation and secondary bone growth, resulting in growth impairment. Typical spinal manifestations in MPS are atlantoaxial instability, thoracolumbar kyphosis/scoliosis, and cervical/lumbar spinal canal stenosis. Spinal disorders and their severity depend on the MPS type and may be related to disease activity. Enzyme replacement therapy or hematopoietic stem cell transplantation has advantages regarding soft tissues; however, these therapeutic modalities are not effective for bone or cartilage and MPS-related bone deformity including the spine. Because spinal disorders show the most serious deterioration among patients with MPS, spinal surgeries are required although they are challenging and associated with high anesthesia-related risks. The aim of this review article is to provide the current comprehensive knowledge of representative spinal disease in MPS and its surgical management, including the related pathology, symptoms, and examinations.

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Evaluation of spinal involvement in children with mucopolysaccharidosis VI: the role of MRI

Cited by 8 publications

References 23 publications

Knee and ankle disorders during functional gait in mucopolysaccharidosis type VI

Knee and ankle disorders during functional gait in mucopolysaccharidosis type VI

Non-cardiac Manifestations in Adult Patients With Mucopolysaccharidosis

Surgical Management of Spinal Disorders in People with Mucopolysaccharidoses

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