A pictorial review of the radiographic skeletal findings in Morquio syndrome (mucopolysaccharidosis type IV)

Padash, Sirwa; Obaid, Haron; Henderson, Robert D. E.; Padash, Yaseen; Adams, Scott; Miller, Scott E.; Babyn, Paul

doi:10.1007/s00247-022-05585-3

Cited by 5 publications

(9 citation statements)

References 60 publications

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“…20 Type IVA, the most severe type, is characterized by kyphoscoliosis, a small and abnormal thoracic cage, genu valgum, pectus carinatum, and a gait disturbance. 19 20…”

Section: Pathologymentioning

confidence: 99%

“…Reactive thickening of the surrounding connective tissues, caused by the accumulation of glycosaminoglycan, results in a soft tissue mass at the CCJ, predisposing to spinal cord compression. 19 20 The soft tissue mass is of low to intermediate signal on T1-weighted images and low signal on T2-weighted images on MRI.…”

Section: Pathologymentioning

confidence: 99%

“…Morquio's disease is a spondylo-epi-(meta)-physeal dysplasia. 20 Type IVA, the most severe type, is characterized by kyphoscoliosis, a small and abnormal thoracic cage, genu valgum, pectus carinatum, and a gait disturbance. 19,20 Cervical and thoracic platyspondyly, together with beaked-shaped vertebrae, are common in MPS IVA.…”

Section: Morquio's Syndromementioning

confidence: 99%

“…20 Type IVA, the most severe type, is characterized by kyphoscoliosis, a small and abnormal thoracic cage, genu valgum, pectus carinatum, and a gait disturbance. 19,20 Cervical and thoracic platyspondyly, together with beaked-shaped vertebrae, are common in MPS IVA. 19,20 At the CCJ, Morquio's syndrome is typically characterized by a dysplasia of C2 and more specifically odontoid hypoplasia in the most severely affected patients (►Fig.…”

Section: Morquio's Syndromementioning

confidence: 99%

“…19,20 Cervical and thoracic platyspondyly, together with beaked-shaped vertebrae, are common in MPS IVA. 19,20 At the CCJ, Morquio's syndrome is typically characterized by a dysplasia of C2 and more specifically odontoid hypoplasia in the most severely affected patients (►Fig. 5).…”

Section: Morquio's Syndromementioning

confidence: 99%

See 4 more Smart Citations

Imaging of the Craniocervical Junction: A Pictorial Review

Mertens,

Vanhoenacker

2023

Semin Musculoskelet Radiol

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The craniocervical junction (CCJ) is a complex anatomical structure comprising the occiput, the atlas, and the axis. The CCJ plays an important role in maintaining stability, providing protection, and supporting neurovascular structures. The CCJ can be affected by a wide range of congenital variants and traumatic, degenerative, inflammatory, and tumoral pathologies. This pictorial review the normal anatomy of the CCJ and presents the most common anatomical variants and pathologic conditions affecting the CCJ.

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“…20 Type IVA, the most severe type, is characterized by kyphoscoliosis, a small and abnormal thoracic cage, genu valgum, pectus carinatum, and a gait disturbance. 19 20…”

Section: Pathologymentioning

confidence: 99%

Section: Pathologymentioning

confidence: 99%

Section: Morquio's Syndromementioning

confidence: 99%

Section: Morquio's Syndromementioning

confidence: 99%

Section: Morquio's Syndromementioning

confidence: 99%

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Imaging of the Craniocervical Junction: A Pictorial Review

Mertens,

Vanhoenacker

2023

Semin Musculoskelet Radiol

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Pseudoachondroplasia: Similar radiographic findings to mucopolysaccharidosis

Matsumoto,

Hori,

Mori

et al. 2024

Pediatrics International

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Enhanced Efficiency of the Basal and Induced Apoptosis Process in Mucopolysaccharidosis IVA and IVB Human Fibroblasts

Brokowska,

Gaffke,

Pierzynowska

et al. 2023

IJMS

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Morquio disease, also called mucopolysaccharidosis IV (MPS IV), belongs to the group of lysosomal storage diseases (LSD). Due to deficiencies in the activities of galactose-6-sulfate sulfatase (in type A) or β-galactosidase (in type B), arising from mutations in GALNS or GLB1, respectively, keratan sulfate (one of glycosaminoglycans, GAGs) cannot be degraded efficiently and accumulates in lysosomes. This primary defect leads to many cellular dysfunctions which then cause specific disease symptoms. Recent works have indicated that different secondary effects of GAG accumulation might significantly contribute to the pathomechanisms of MPS. Apoptosis is among the cellular processes that were discovered to be affected in MPS cells on the basis of transcriptomic studies and some cell biology experiments. However, Morquio disease is the MPS type which is the least studied in light of apoptosis dysregulation, while RNA-seq analyses suggested considerable changes in the expression of genes involved in apoptosis in MPS IVA and IVB fibroblasts. Here we demonstrate that cytochrome c release from mitochondria is more efficient in MPS IVA and IVB fibroblasts relative to control cells, both under the standard cultivation conditions and after treatment with staurosporine, an apoptosis inducer. This indication of apoptosis stimulation was corroborated by measurements of the levels of caspases 9, 3, 6, and 7, as well as PARP, cleaved at specific sites, in Morquio disease and control fibroblasts. The more detailed analyses of the transcriptomic data revealed which genes related to apoptosis are down- and up-regulated in MPS IVA and IVB fibroblasts. We conclude that apoptosis is stimulated in Morquio disease under both standard cell culture conditions and after induction with staurosporine which may contribute to the pathomechanism of this disorder. Dysregulation of apoptosis in other MPS types is discussed.

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A pictorial review of the radiographic skeletal findings in Morquio syndrome (mucopolysaccharidosis type IV)

Cited by 5 publications

References 60 publications

Imaging of the Craniocervical Junction: A Pictorial Review

Imaging of the Craniocervical Junction: A Pictorial Review

Pseudoachondroplasia: Similar radiographic findings to mucopolysaccharidosis

Enhanced Efficiency of the Basal and Induced Apoptosis Process in Mucopolysaccharidosis IVA and IVB Human Fibroblasts

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