An Evidence-based Approach to the Management of Children With Morquio A Syndrome Presenting With Craniocervical Pathology

Williams, Nicole; Narducci, Alessandro; Eastwood, Deborah M.; Cleary, Maureen; Thompson, Dominic

doi:10.1097/brs.0000000000002743

Cited by 10 publications

(12 citation statements)

References 20 publications

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“…36,43 Additionally, five articles specific for MPS-IV concluded that radiological evidence of atlantoaxial instability or spinal cord compression warrants surgical intervention, even in the absence of symptoms. 36,41,42,47,50 Contrastingly, prophylactic surgery for MPS-VI was not recommended in any study, and three studies specific for MPS-VI stated that cervical myelopathy must be present for surgery to be indicated. 18,49,51 Surgical management of cranio-cervical pathology Twenty-three articles discussed the surgical management of craniocervical pathology in MPS, involving 232 patients with a median follow-up of 7.6 years (range 2 days-21.4 years).…”

Section: Cranio-cervical Pathologymentioning

confidence: 95%

“…Evidence of cervical myelopathy or progressive neurological compromise was unanimously accepted as a surgical indication. 8,18,25,31,34,36,37,[41][42][43][44][46][47][48][49]51 Cervical spinal cord signal change on MRI was considered an indication for surgery in six studies, 31,36,41,42,44,47 while pathological reflexes on neurological examination were reported as an indication in two studies. 41,44 The indications for cervical surgery were notably less stringent for MPS-IV than for other MPS subtypes, with two studies advocating for prophylactic occipitocervical fusion prior to the development of any clinical or radiological abnormailities.…”

Section: Cranio-cervical Pathologymentioning

confidence: 99%

“…18,49,51 Surgical management of cranio-cervical pathology Twenty-three articles discussed the surgical management of craniocervical pathology in MPS, involving 232 patients with a median follow-up of 7.6 years (range 2 days-21.4 years). Twelve studies recommended posterior occipitocervical fusion (with or without decompression), 12,19,25,31,36,[40][41][42][43][45][46][47] while 10 studies advocated for decompression to be performed primarily. 8,18,[32][33][34]37,[48][49][50][51] One article was impartial, concluding that fusion and/or decompression are generally safe and effective interventions for symptomatic patients.…”

Section: Cranio-cervical Pathologymentioning

confidence: 99%

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The surgical management of spinal disorders in lysosomal storage diseases: a systematic review

Abbot

Williams

2022

ANZ Journal of Surgery

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Background: The skeletal manifestations of lysosomal storage diseases (LSDs) are largely refractory to available therapeutic modalities. Consequently, there is an increasing need to manage their spinal deformities. The aim was to perform a systematic review to answer the questions, "What are the reported indications for surgery for spinal deformity in patients with LSDs?" and "what are the published surgical management strategies?". Methods: Articles that made reference to at least one LSD, a spinal abnormality and surgical management were included. Extracted study data included: study type, sample size, methodology and year of publication. The following clinical information was collected: demographics, spinal abnormalities, and surgical indications, details and outcomes. Results: Thirty-seven articles were included, with 23 describing surgical management of craniocervical manifestations seen in mucopolysaccharidosis. Radiological evidence of myelopathy at the craniocervical junction and/or progressive clinical neurological compromise were accepted as surgical indications. Prophylactic surgery was proposed by some authors. The recommended surgical technique and whether to stabilise and/or decompress varied between articles and LSD types. Twenty-one articles discussed thoracolumbar pathology, including thoracolumbar kyphosis and scoliosis. Radiological severity, progression of deformity, and presence of neurological deterioration were discussed as surgical indications. Most papers recommended circumferential arthrodesis via combined anterior and posterior approaches. Conclusion:The surgical management of spinal disorders in LSDs remains controversial. Centres managing these patients should be encouraged to have a standardised system of reporting outcomes, to facilitate recommendations for management of the spinal manifestations.

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Section: Cranio-cervical Pathologymentioning

confidence: 95%

Section: Cranio-cervical Pathologymentioning

confidence: 99%

Section: Cranio-cervical Pathologymentioning

confidence: 99%

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The surgical management of spinal disorders in lysosomal storage diseases: a systematic review

Abbot

Williams

2022

ANZ Journal of Surgery

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“…), inborn errors of metabolism (mucopolysaccaridosis, including Hunter syndrome, Morquio syndrome, Shy syndrome, etc. ), traumas and tumours (26)(27)(28)(29).…”

Section: Advancedmentioning

confidence: 99%

Pre-operative imaging and post-operative appearance of standard paediatric neurosurgical approaches: a training guide for neuroradiologists

2021

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A short-cut narrative review was conducted according to the SANRA guidelines to identify studies describing normal and abnormal postoperative radiological features of the most common paediatric neurosurgical procedures. Rather than focusing on the original pathology addressed by neurosurgical means, this review explored three main areas of operative neurosurgery: ventricular access, supratentorial & infratentorial craniotomies, and posterior fossa/craniocervical junction decompression. A total of twenty-three landmark papers were included for review based on their relevance to address the research question and serve as a practical guide for paediatric neuroradiology trainees and fellows. Accurate in text referencing of the ClinicalTrials.gov identifier, and weblink, has also been provided for all trials discussed in the results section. All the above is complemented by relevant iconography meant to describe a wide range of postoperative changes and early complications. Finally, the review is enriched by a discussion touching upon haemostatic agents, intentionally retained foreign bodies and the future of machine learning for neuroradiology reporting. Overall, the information presented in a systematic fashion will not only help trainees and fellows to deepen these topics and expand their knowledge in preparation for written and oral boards, but will also represent a useful resource for everyone including trained neuroradiologists and neurosurgeons themselves.

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“…The incidence of MPS IV ranges from 1/76,000 births in Northern Ireland to 1/640,000 births in Australia, with some symptoms presenting as late as 3 years of age [1,4]. Most previous orthopedic studies on MPS IV have focused on the atlantoaxial stability of the cervical spine [2,[7][8][9][10]; however, fewer studies have investigated the severity of lower extremity deformities including genu valgum, ankle valgus, progressive hip dysplasia, and other physical attributes, such as joint laxity, and their impact on 3D gait patterns [7,8]. Thus, further investigations to understand the variability in lower extremity deformities in children with MPS IV and the relationship between their severity and dynamic outcomes are warranted.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of Gait Pattern and Lower Extremity Kinematics of Children with Morquio Syndrome (MPS IV)

et al. 2021

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Morquio syndrome (mucopolysaccharidosis IV/MPS IV) is a genetic disorder leading to skeletal abnormalities and gait deviations. Research on the gait patterns and lower extremity physical characteristics associated with skeletal dysplasia in children with MPS IV is currently limited. This research aimed to provide baseline gait patterns and lower limb skeletal alignment of children with MPS IV utilizing three-dimensional instrumented gait analysis. This Institutional Review Board-approved retrospective study evaluates the kinematics of the lower extremities of children with MPS IV during gait, comparing them with an age-matched group of typically developing children. Thirty-three children with MPS IV were included (8.6 ± 4.0 years old). Children with MPS IV walk with increased anterior pelvic tilt, knee valgus, knee flexion, external tibial torsion, and reduced walking speed and stride length (p < 0.001). Multiplanar abnormal alignment results in abnormal knee moments (p < 0.001). Limited correlations exist (r = 0.69–0.28) between dynamic three-dimensional measurements of knee varus/valgus and rotational alignment and traditional static two-dimensional measures (physical examination or radiographs) suggesting the possibility of knee instability during gait and the benefits of dynamic assessment.

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An Evidence-based Approach to the Management of Children With Morquio A Syndrome Presenting With Craniocervical Pathology

Abstract: 4.

Cited by 10 publications

References 20 publications

The surgical management of spinal disorders in lysosomal storage diseases: a systematic review

The surgical management of spinal disorders in lysosomal storage diseases: a systematic review

Pre-operative imaging and post-operative appearance of standard paediatric neurosurgical approaches: a training guide for neuroradiologists

Evaluation of Gait Pattern and Lower Extremity Kinematics of Children with Morquio Syndrome (MPS IV)

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