A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome: Radiographic and MRI Appearance

Cesare, A. Di; Cagno, Alessandra di; Moffa, Stefano; Paolucci, Teresa; Innocenzi, L; Giombini, Arrigo

doi:10.1155/2012/324596

Cited by 9 publications

(13 citation statements)

References 12 publications

(16 reference statements)

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“…Arbisser et al 1977; Beck et al 1987; Di Cesare et al 2012; Groebe et al 1980; Holzgreve et al 1987; Maroteaux et al 1982; O'Brien et al 1976; Pronicka et al 1981; Sheth et al 2002; Trojak et al 1980; van Gemund et al 1983…”

Section: Methods and Resultsmentioning

confidence: 99%

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Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1‐related dysostosis multiplex

et al. 2019

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Background Morquio‐B disease (MBD) is a distinct GLB1‐related dysostosis multiplex involving the trabecular parts of long bones and spine, presenting a mild phenocopy of GALNS‐related Morquio‐A disease. Methods We analyzed 63 (n = 62 published) cases with MBD to describe their clinical, biochemical and genetic features. Results Forty‐one of 51 cases with informative clinical data had pure MBD including progressive growth impairment, kyphoscoliosis, coxa/genua valga, joint laxity, platyspondyly, odontoid hypoplasia. Ten of 51 had MBD plus neuronopathic manifestations including intellectual/developmental/speech delay, spasticity, ataxia dystonia. Corneal clouding, cardiac valve pathology, hepatosplenomegaly, spinal cord compression were infrequent and atlantooccipital dislocation, cardiomyopathy and cherry red spot were never reported. Urinary glycosaminoglycan and oligosaccharide excretion was consistently abnormal. Keratan sulphate‐derived oligosaccharides were only detected using LC‐MS/MS‐based methods. Residual β‐galactosidase activities measured against synthetic substrates were 0%‐17%. Among 28 GLB1 variants, W273 L (34/94 alleles) and T500A (11/94 alleles) occurred most frequently. W273L was invariably associated with pure MBD. Pure MBD also was reported in a case homozygous for R201H, and in the majority of cases carrying the T500A variant. Homozygous Y333C and G438E were associated with MBD plus neuronopathic manifestations. T82M, R201H, and H281Y, observed in seven alleles, previously have been found sensitive to experimental chaperones. Conclusion Data provide a basis for future systematic collection of clinical, biochemical, morphologic, and genetic data of this ultra‐rare condition.

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Section: Methods and Resultsmentioning

confidence: 99%

“…Spinal canal narrowing without myelocompression was reported in a 7-year-old male and a 10-year-old female, 18,31 and in a 40-year-old woman with myelocompression. 23 In a 15-year-old male with pure MBD 22 spinal malalignment had led to spastic paraplegia.…”

Section: Methods and Resultsmentioning

confidence: 99%

Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1‐related dysostosis multiplex

et al. 2019

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“…Except for a recent study [15] who reported scintigraphic features, no other studies have been recently published presenting typical clinical features and systematic imaging collection of this rare disease. The aim of our study is therefore to describe the unique clinical and radiological features in an adult case of type IV A MPS.…”

Section: Introductionmentioning

confidence: 99%

Spectrum of Skeletal and Non-Skeletal Manifestations of Morquio A Syndrome in an Adult: A Case Report

Arvind¹

2015

Int J Phys Med Rehabil

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Morquio syndrome is an autosomal recessive mucopolysaccharidosis which includes type IVA, a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase and type IVB a deficiency of β-galactosidase. We report a 28-year-old Indian male patient affected by Morquio A syndrome demonstrating the characteristic musculoskeletal and nonskeletal manifestations of this disease on clinical and radiological examination. Digital x-ray of the spine, pelvis, chest and knees together with magnetic resonance imaging of the entire spinal column were done. The main abnormalities were atlantoaxial subluxation, anterior beaking of the vertebrae with thoracolumbar kyphosis, platyspondyly, hypoplasia of the odontoid process, short thorax with wide anterior posterior diameter, genu valga deformity and severe multiple degenerative changes of the hips, knees, and ankle joints.Based on clinical findings and radiological features it is possible to diagnose a case of Morquio A syndrome. Nonskeletal abnormalities may also provide key insight into the clinical diagnosis of MPS IVA. Careful and systemic approach is needed to accurately diagnose the exact type as enzymatic studies are not available in most centers. Radiological examination is crucial for assessment of the skeletal and joints changes, and the rehabilitation strategies to be followed.

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“…The femoral neck may be short, wide, and markedly anteverted. Soft tissue contractures around the hip joints cause severe fixed hip flexion deformity [2] , [3] , [4] , [5] .…”

Section: Introductionmentioning

confidence: 99%

Simultaneous bilateral total hip arthroplasty in Morquio syndrome

et al. 2017

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A 16-year-old girl who had Morquio syndrome presented with severe bilateral hip pain and limited mobility because of bilateral hip osteoarthritis and fixed flexion deformities. She was wheelchair bound for the previous 6 months. Cervical spine flexion-extension views showed mild subluxation (<3 mm), and there was thoracolumbar spine kyphosis. Magnetic resonance imaging of the cervical and thoracolumbar spine showed hypoplasia of the odontoid and vertebral bodies, but no spinal cord compression. Bilateral cemented total hip arthroplasty was performed through a posterior approach under general anesthesia with fiberoptic intubation. The femoral canals accepted a small-diameter stem, the right femoral head was used as a graft for superior right acetabular deficiency, and low-profile all-polyethylene acetabular cups were implanted. Follow-up at 15 years after surgery showed that the patient was fully ambulatory without pain or supports, and radiographs showed no loosening. In summary, total hip arthroplasty at a young age may be necessary in patients who have Morquio syndrome because of severe arthritis and soft tissue contractures. Extensive preoperative evaluation that includes imaging of the entire spine is mandatory because of the risk of developing spinal cord compression.

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A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome: Radiographic and MRI Appearance

Cited by 9 publications

References 12 publications

Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1‐related dysostosis multiplex

Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1‐related dysostosis multiplex

Spectrum of Skeletal and Non-Skeletal Manifestations of Morquio A Syndrome in an Adult: A Case Report

Simultaneous bilateral total hip arthroplasty in Morquio syndrome

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