Surgical management of thoracolumbar kyphosis in mucopolysaccharidosis type 1 in a reference center

Genevois, Kariman Abelin; Garin, C.; Solla, Federico; Guffon, Nathalie; Köhler, R.

doi:10.1007/s10545-013-9630-2

Cited by 31 publications

(21 citation statements)

References 34 publications

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“…However, it is still difficult to determine the type of MPS only by the shape of the vertebral deformity [49]. Thoracolumbar kyphosis causes sagittal imbalance accompanied by thoracic lordosis, pelvic anteversion, and lumbar hyper-lordosis, requiring flexed knee and hip joints to maintain standing balance [50].…”

Section: Thoracolumbar Kyphosismentioning

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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Section: Thoracolumbar Kyphosismentioning

confidence: 99%

Surgical Management of Spinal Disorders in People with Mucopolysaccharidoses

Terai

Nakamura

2020

IJMS

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“…This patient had severe kypho-scoliotic deformity at the time-of-death. Failures of ossification in the anterior-superior regions of the vertebrae at the thoracolumbar junction have been associated with progressive deformity in MPS I and VII patients [126, 127]. …”

Section: Pathophysiology Of Spine Disease In Mpsmentioning

confidence: 99%

“…Management of spinal manifestations in MPS patients requires careful radiological monitoring, and often involves surgical intervention to correct thoracolumbar deformity, atlanto-axial subluxation, or other condition causing compression of the spinal cord [126, 169–171]. MPS patients require surgical correction of spinal deformity at an average age of 5–8 years [126, 172, 173].…”

Section: Treating the Spinal Manifestations Of Mps: Current And Fumentioning

confidence: 99%

Section: Treating the Spinal Manifestations Of Mps: Current And Fumentioning

confidence: 99%

“…MPS patients require surgical correction of spinal deformity at an average age of 5–8 years [126, 172, 173]. The prevalence of surgical intervention for MPS patients is around 15–20% [126, 127]. The overall prevalence of spinal surgery for MPS patients is expected to increase as systemic therapies (described below) increase life expectancy, but as expected for any surgical patient with significant comorbidities, spinal surgery has a high complication rate in MPS patients [172].…”

Section: Treating the Spinal Manifestations Of Mps: Current And Fumentioning

confidence: 99%

See 2 more Smart Citations

Pathogenesis and treatment of spine disease in the mucopolysaccharidoses

Peck

Casal

Malhotra

et al. 2016

Molecular Genetics and Metabolism

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The mucopolysaccharidoses (MPS) are a family of lysosomal storage disorders characterized by deficient activity of enzymes that degrade glycosaminoglycans (GAGs). Skeletal disease is common in MPS patients, with the severity varying both within and between subtypes. Within the spectrum of skeletal disease, spinal manifestations are particularly prevalent. Developmental and degenerative abnormalities affecting the substructures of the spine can result in compression of the spinal cord and associated neural elements. Resulting neurological complications, including pain and paralysis, significantly reduce patient quality of life and life expectancy. Systemic therapies for MPS such as hematopoietic stem cell transplantation and enzyme replacement therapy have shown limited efficacy for improving spinal manifestations in patients and animal models, and there is therefore a pressing need for new therapeutic approaches that specifically target this debilitating aspect of the disease. In this review, we examine how pathological abnormalities affecting the key substructures of the spine – the discs, vertebrae, odontoid process and dura – contribute to the progression of spinal deformity and symptomatic compression of neural elements. Specifically, we review current understanding of the underlying pathophysiology of spine disease in MPS, how the tissues of the spine respond to current clinical and experimental treatments, and discuss future strategies for improving the efficacy of these treatments.

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Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders

Jones

Wijburg

2016

Inborn Metabolic Diseases

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Surgical management of thoracolumbar kyphosis in mucopolysaccharidosis type 1 in a reference center

Cited by 31 publications

References 34 publications

Surgical Management of Spinal Disorders in People with Mucopolysaccharidoses

Surgical Management of Spinal Disorders in People with Mucopolysaccharidoses

Pathogenesis and treatment of spine disease in the mucopolysaccharidoses

Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders

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