Spinal cord issues in adult patients with MPS: transition of care survey

Ghotme, Kemel A.; Alvarado-Gómez, Fernando; Lampe, Christina; White, Klane K.; Solano-Villareal, Martha; Giugliani, Roberto; Harmatz, Paul

doi:10.1007/s00381-018-3834-6

Cited by 5 publications

(7 citation statements)

References 35 publications

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“…Spinal canal stenosis and foramen magnum stenosis are characteristic findings of patients with MPS [34,35], and MPS VII model mice showed spinal canal and foramen magnum stenosis in this study. In terms of foramen magnum stenosis, Alizarin red and Alcian blue staining of the skull base in 12-week-old mice revealed that the AIOS was still present in MPS VII mice but was closed in WT mice; this delayed ossification may have contributed to foramen magnum stenosis.…”

Section: Plos Onesupporting

confidence: 66%

Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo

et al. 2022

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Skeletal alterations in the head and neck region, such as midfacial hypoplasia, foramen magnum stenosis and spinal canal stenosis, are commonly observed in patients with mucopolysaccharidosis (MPS). However, enzyme replacement therapy (ERT), one of the major treatment approaches for MPS, shows limited efficacy for skeletal conditions. In this study, we analysed the craniofacial morphology of mice with MPS type VII, and investigated the underlying mechanisms promoting jaw deformities in these animals. Furthermore, we investigated the effects of C-type natriuretic peptide (CNP), a potent endochondral ossification promoter, on growth impairment of the craniofacial region in MPS VII mice when administered alone or in combination with ERT. MPS VII mice exhibited midfacial hypoplasia caused by impaired endochondral ossification, and histological analysis revealed increased number of swelling cells in the resting zone of the spheno-occipital synchondrosis (SOS), an important growth centre for craniomaxillofacial skeletogenesis. We crossed MPS VII mice with transgenic mice in which CNP was expressed in the liver under the control of the human serum amyloid-P component promoter, resulting in elevated levels of circulatory CNP. The maxillofacial morphological abnormalities associated with MPS VII were ameliorated by CNP expression, and further prevented by a combination of CNP and ERT. Histological analysis showed that ERT decreased the swelling cell number, and CNP treatment increased the width of the proliferative and hypertrophic zones of the SOS. Furthermore, the foramen magnum and spinal stenoses observed in MPS VII mice were significantly alleviated by CNP and ERT combination. These results demonstrate the therapeutic potential of CNP, which can be used to enhance ERT outcome for MPS VII-associated head and neck abnormalities.

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Section: Plos Onesupporting

confidence: 66%

Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo

et al. 2022

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“…Cervical myelopathy with cord compression has been identified in 55% of adult MPS IVA patients ( 155 ), and those with slowly progressing MPS IV underwent primary cranio-cervical decompression and fixation at a mean age of 24 years ( 206 ). Furthermore, MPS patients who underwent surgical intervention during childhood often require further intervention as an adult, highlighting that MPS disease status can remain dynamic despite advancements in medical therapies and early surgical intervention ( 18 , 207 ). From a technical surgical perspective, surgical fixation can induce “adjacent segment disease,” in which spinal fixation causes increased biomechanical stress through neighboring spinal segments, accelerating degenerative changes often leading to further surgery ( 208 , 209 ).…”

Section: Neurosurgical Issuesmentioning

confidence: 99%

“…Cervical stenosis the most commonly occurring spinal pathology in MPS patients (MPS I, II, VI) and occurs due to accumulation of GAG in epidural connective tissue and ligamentum flavum plus the additional impact of hypoplastic posterior C1 arch and degenerative facet joints and intervertebral discs ( 207 ) ( Figure 14 ).…”

Section: Neurosurgical Issuesmentioning

confidence: 99%

Non-cardiac Manifestations in Adult Patients With Mucopolysaccharidosis

Stępień

Bentley

Chen

et al. 2022

Front. Cardiovasc. Med.

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Mucopolysaccharidoses (MPS) are a heterogeneous group of disorders that results in the absence or deficiency of lysosomal enzymes, leading to an inappropriate storage of glycosaminoglycans (GAGs) in various tissues of the body such as bones, cartilage, heart valves, arteries, upper airways, cornea, teeth, liver and nervous system. Clinical manifestations can become progressively exacerbated with age and affect their quality of life. Developments in advanced supportive treatment options such as enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT) may have improved patients' life span. Adult MPS patients require specialist clinical surveillance long-term. In many cases, in addition to the MPS-related health problems, they may develop age-related complications. Considering the complexity of their clinical manifestations and lack of guidelines on the management of adult MPS disorders, multispecialty and multidisciplinary teams' care is essential to diagnose and treat health problems that are likely to be encountered. This review presents non-cardiac clinical manifestations, their pathophysiology, management and long-term outcomes in adult MPS patients.

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“…Cervical stenosis is widely recognized in MPS I, II, VI, VII, and mucolipidosis [16] and is the main spinal problem in patients with MPS [38]. There are two pathophysiological factors in spinal stenosis in MPS: developmental and acquired factors.…”

Section: Cervical Stenosismentioning

confidence: 99%

“…Patients must be evaluated for cardiac, pulmonary, and airway conditions by specialists before surgery to avoid perioperative risks. Anesthesiologists should evaluate cervical MRI/CT images to determine the direction of neck movement that does not impact the cervical cord during intubation [38,61,62].…”

Section: General Anesthesia For Spinal Surgerymentioning

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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Spinal cord issues in adult patients with MPS: transition of care survey

Cited by 5 publications

References 35 publications

Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo

Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo

Non-cardiac Manifestations in Adult Patients With Mucopolysaccharidosis

Surgical Management of Spinal Disorders in People with Mucopolysaccharidoses

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