Ultrastructural change of ligamentum flavum in galactosialidosis

Nakama, Sueo; Hagiwara, Suguru; Kato, Masaki; Kanaya, Yuji; Watanabe, Hideaki

doi:10.1007/s00586-013-2981-4

Cited by 1 publication

(2 citation statements)

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“…The archetypal spinal manifestation of many LSDs is thoracolumbar kyphosis (TLK) with thoracolumbar vertebral dysplasia. 6 This is seen in mucopolysaccharidosis (MPS), mucolipidosis and galactosialidosis. 7 Craniocervical pathology, including odontoid dysplasia and atlantoaxial subluxation is also is seen in a number of LSDs 4,8 Cervicothoracic kyphosis has been associated with devastating thoracic infarcts occurring with spinal and lower limb surgery in patients with MPS and other conditions.…”

Section: Introductionmentioning

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: Introductionmentioning

confidence: 99%

“…The effects of the disease on the spine primarily manifest at the craniocervical, thoracolumbar and cervicothoracic junctions. The archetypal spinal manifestation of many LSDs is thoracolumbar kyphosis (TLK) with thoracolumbar vertebral dysplasia 6 . This is seen in mucopolysaccharidosis (MPS), mucolipidosis and galactosialidosis 7 .…”

Section: Introductionmentioning

confidence: 99%