Myelopathy in a dwarf: A case of Morquio′s syndrome without odontoid hypoplasia

Shukla, Dhaval; Arvind, Sharma; Devi, B Indira

doi:10.4103/0028-3886.76861

Cited by 7 publications

(5 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Atlantoaxial instability is a common finding in MPS IVA and is thought to arise from a combination of dens hypoplasia and ligamentous laxity. Only one case of cervical spinal cord compression without dens hypoplasia has been reported (Shukla et al 2011). In the presence of atlantoaxial instability, acute injury to the cord may result from sudden and/or vigorous hyperflexion or hyperextension.…”

Section: Spectrum Of Spinal Involvement In Mps Ivamentioning

confidence: 99%

Spinal involvement in mucopolysaccharidosis IVA (Morquio‐Brailsford or Morquio A syndrome): presentation, diagnosis and management

Solanki

Martin²,

Theroux

et al. 2013

J of Inher Metab Disea

112

121

View full text Add to dashboard Cite

Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests primarily as a progressive skeletal dysplasia. Spinal involvement is a major cause of morbidity and mortality in MPS IVA. Early diagnosis and timely treatment of problems involving the spine are critical in preventing or arresting neurological deterioration and loss of function. This review details the spinal manifestations of MPS IVA and describes the tools used to diagnose and monitor spinal involvement. The relative utility of radiography, computed tomography (CT) and magnetic resonance imaging (MRI) for the evaluation of cervical spine instability, stenosis, and cord compression is discussed. Surgical interventions, anaesthetic considerations, and the use of neurophysiological monitoring during procedures performed under general anaesthesia are reviewed. Recommendations for regular radiological imaging and neurologic assessments are presented, and the need for a more standardized approach for evaluating and managing spinal involvement in MPS IVA is addressed.

show abstract

Section: Spectrum Of Spinal Involvement In Mps Ivamentioning

confidence: 99%

Spinal involvement in mucopolysaccharidosis IVA (Morquio‐Brailsford or Morquio A syndrome): presentation, diagnosis and management

Solanki

Martin²,

Theroux

et al. 2013

J of Inher Metab Disea

112

121

View full text Add to dashboard Cite

show abstract

“…Very few cases of cervical spinal cord compression without dens hypoplasia has been reported in the literature till date. [ 4 ]…”

Section: Discussionmentioning

confidence: 99%

Lessons learned from surgical management of craniovertebral instability in Morquio syndrome: A series of four unusual cases

Singh

Sardhara

Raiyani

et al. 2020

J Craniovert Jun Spine

View full text Add to dashboard Cite

Morquio syndrome (MS) is an autosomal recessive defect caused by the deficiency of N-acetylgalactosamine-6-sulfatase. Odontoid hypoplasia, periodontoid soft tissue deposition, and cervical stenosis lead to myelopathy and quadriparesis in these patients. Craniovertebral junction instability in MS possesses a surgical challenge as bones are yet to completely ossify. The atlantoaxial dislocation (AAD) is reducible, and the need of transoral decompression for the soft tissue deposition ventral to odontoid is debatable. We present a series of four cases (mean age 4.3 ± 0.4 years) operated through posterior-only approach ( n = 2, C1-lateral mass to C2 pars-interarticularis [Goel's technique]; n = 1 sublaminar wiring followed by C1-lateral mass to C2 pars-interarticularis; and n = 1 suboccipital plate with pars-interarticularis of C2 screw and pedicle of C3 and rod fixation). All patients had acceptable outcome and doing well at the last follow-up (12–96-follow-up). None of our patient needed transoral decompression. Patients with MS frequently manifest with spastic quadriparesis at an early age due to reducible AAD. Early surgical fixation with posterior C1–C2 screw and rod technique is recommended for the favorable surgical outcome and long-term stability of the cervical spine.

show abstract

“…This is not surprising, as transition from cartilage to bone in the dens axis might not be completed before the age of 8 years, and 11/28 patients in our study were < 8 years old. Furthermore, cervical cord compression may also occur in the absence of bony odontoid hyperplasia (Shukla et al 2011). The abbreviated and extended CCJ scorescombining MRI, neurological examination and atlantoaxial subluxation scoresappeared to have a higher discriminatory power than the individual tests.…”

Section: Discussionmentioning

confidence: 99%

Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)

et al. 2013

View full text Add to dashboard Cite

show abstract

Myelopathy in a dwarf: A case of Morquio′s syndrome without odontoid hypoplasia

Cited by 7 publications

References 4 publications

Spinal involvement in mucopolysaccharidosis IVA (Morquio‐Brailsford or Morquio A syndrome): presentation, diagnosis and management

Spinal involvement in mucopolysaccharidosis IVA (Morquio‐Brailsford or Morquio A syndrome): presentation, diagnosis and management

Lessons learned from surgical management of craniovertebral instability in Morquio syndrome: A series of four unusual cases

Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)

Contact Info

Product

Resources

About