Musculoskeletal Manifestations of Hurler Syndrome

Weisstein, Jason S.; Delgado, Eliana; Steinbach, Lynne S.; Hart, Kim; Packman, Seymour

doi:10.1097/01241398-200401000-00019

Cited by 119 publications

(32 citation statements)

References 21 publications

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“…HSCT cannot prevent or stabilize progression of the hip abnormalities in most patients [3,17,18,29]. Although data on the long-term follow-up of transplanted MPS I-H patients are very limited, the radiological characteristics, such as (sub)luxation of the hips and decreased articular cartilage, suggest that hip dysplasia may ultimately result, at least in a subgroup of patients, in pain and loss of function.…”

Section: Resultsmentioning

confidence: 99%

“…Randomized controlled trials are, however, extremely difficult to perform in a very rare and heterogeneous disease such as MPS I-H. Additionally, such studies are further complicated by the very long follow-up period of at least 20 years needed to assess the effects of any intervention, compared to a more conservative wait-and-see-approach for hip dysplasia. At present, there are only case series on the surgical management of hip dysplasia reported in the literature (level 4 evidence, Table 1), and these studies do not report on the effects of surgery on long-term complications such as osteoarthritis [3,15-18]. …”

Section: Discussionmentioning

confidence: 99%

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Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure

Langereis

Borgo

Crushell

et al. 2013

Orphanet J Rare Dis

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BackgroundMucopolysaccharidosis type I (MPS-I) is a lysosomal storage disorder characterized by progressive multi-organ disease. The standard of care for patients with the severe phenotype (Hurler syndrome, MPS I-H) is early hematopoietic stem cell transplantation (HSCT). However, skeletal disease, including hip dysplasia, is almost invariably present in MPS I-H, and appears to be particularly unresponsive to HSCT. Hip dysplasia may lead to pain and loss of ambulation, at least in a subset of patients, if left untreated. However, there is a lack of evidence to guide the development of clinical guidelines for the follow-up and treatment of hip dysplasia in patients with MPS I-H. Therefore, an international Delphi consensus procedure was initiated to construct consensus-based clinical practice guidelines in the absence of available evidence.MethodsA literature review was conducted, and publications were graded according to their level of evidence. For the development of consensus guidelines, eight metabolic pediatricians and nine orthopedic surgeons with experience in the care of MPS I patients were invited to participate. Eleven case histories were assessed in two written rounds. For each case, the experts were asked if they would perform surgery, and they were asked to provide information on the aspects deemed essential or complicating in the decision-making process. In a subsequent face-to-face meeting, the results were presented and discussed. Draft consensus statements were discussed and adjusted until consensus was reached.ResultsConsensus was reached on seven statements. The panel concluded that early corrective surgery for MPS I-H patients with hip dysplasia should be considered. However, there was no full consensus as to whether such a procedure should be offered to all patients with hip dysplasia to prevent complications or whether a more conservative approach with surgical intervention only in those patients who develop clinically relevant symptoms due to the hip dysplasia is warranted.ConclusionsThis international consensus procedure led to the construction of clinical practice guidelines for hip dysplasia in transplanted MPS I-H patients. Early corrective surgery should be considered, but further research is needed to establish its efficacy and role in the treatment of hip dysplasia as seen in MPS I.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure

Langereis

Borgo

Crushell

et al. 2013

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

“…Рентгенограмма позвоночника пациента с мукополисахаридозом: дефор-мация тел позвонков с формирова ни ем краевых костных разрастаний, сужение позвоночного канала (указано стрелкой), деформация дурального мешка, цирку-ляр ное пролабиро вание межпозво-ночных дисков с призна ками сужения межпоз воночных отверстий и возмож ной компрессии нервных корешков позвоночника и спинного хребта и способствует нор-мальному костному разви-тию (рис. 5-7) [17][18][19]. Наличие миелопа-тии также требует тща-тельного наблюдения и, возможно, оперативно-го вмешательства.…”

Section: клиническая картинаunclassified

“…Про-грессирующая аккумуля-ция гликозаминогликанов в области зубовидного отростка приводит к сте-нозу и компрессии спинно-го мозга в шейном отделе позвоночника (рис. 8, 9) [19,20]. Утолщение обо-лочек спинного мозга, нестабильность атланто-аксиального сустава при-водит к дисфункции моче-вого пузыря, наблюдают-ся мышечная слабость, нарушение походки, отмечается неуклюжесть движений при сохранных моторных навы-ках.…”

Section: клиническая картинаunclassified

“…Утолщение обо-лочек спинного мозга, нестабильность атланто-аксиального сустава при-водит к дисфункции моче-вого пузыря, наблюдают-ся мышечная слабость, нарушение походки, отмечается неуклюжесть движений при сохранных моторных навы-ках. Развитие тетрапареза является причиной преждев-ременной смерти пациентов с МПС [19,20].…”

Section: клиническая картинаunclassified

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