Spine challenges in mucopolysaccharidosis

Crostelli, Marco; Mazza, Oscar; Mariani, Massimo; Mascello, Dario; Iorio, Carlo

doi:10.1007/s00264-018-4143-0

Cited by 14 publications

(30 citation statements)

References 39 publications

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“…Развитие ортопедической патологии, в том числе и патологии позвоночника, следует рассматривать в контексте ортопедических осложнений [11][12][13]. Это выражается в гипермобильности лучезапястных суставов, контрактурах крупных суставов в сочетании с туннельными синдромами, что проявляется проблемами самообслуживания и низким качеством жизни.…”

Section: обоснованиеunclassified

Aspects of Surgical Treatment of Spinal Pathology in the Patient with Gurler Syndrome

Очирова

Рябых

2021

Pediatr. farmakol.

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The clinical case of surgical treatment of combined spinal pathology in the child with Gurler syndrome is described in the article. Indications, major risk factors and aspects of surgical treatment of spinal pathology at this nosology are described in detail; all the approaches are analyzed according to the literature. Background. We would like to draw the attention of our colleagues to this problem with this clinical case. We want to emphasize the peculiarities of orthopedic manifestations in patients with mucopolysaccharidosis type IH (MPS IH). The most crucial is timely detection and surgical treatment. Clinical case description. This article describes the aspects of surgical treatment of spinal pathology in the patient with MPS IH: progressive kyphotic deformation, stenosis and craniovertebral junction instability, significant neurological deficit, internal organs functional disorders. Conclusion. Patients with MPS are characterized by multilevel orthopedic pathology which requires continuous follow-up throughout the life by single multidisciplinary team of specialists.

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Section: обоснованиеunclassified

Aspects of Surgical Treatment of Spinal Pathology in the Patient with Gurler Syndrome

Очирова

Рябых

2021

Pediatr. farmakol.

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“…Anterior beaking of the inferior aspect of the vertebral body is common in MPS I, while patients with MPS IV show anterior beaking of the midpoint of the vertebral body. 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%

“…The effect of ERT or bone marrow transplantation on preventing spinal deformity is not confirmed and requires further examination of the natural history of kyphosis progression in MPS [24]. Abelin et al suggested using bracing to prevent kyphosis progression immediately after patients are able to maintain the sitting position [50], and Crostelli et al reported successful outcomes using braces in 15 patients with MPS I [49].…”

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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“…Mucopolysaccharidosis involve the skeletal system and particularly the spine, with developing kyphosis at the thoracolumbar junction that can cause neurological symptoms, and dens hypoplasia with associated atlantoaxial subluxation that can cause myelopathy. Surgical treatment is effective in severe evolving cases both at the cervical and at the thoraco-lumbar level; the main difficulties arose from the unavailability of dedicated instrumentation in very young patients, as even the smallest devices available are often too big [20].…”

Section: Spinementioning

confidence: 99%