title: Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.
abstract: 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.
authors: Department of Paediatric Neurosurgery, Birmingham Children's Hospital NHS Foundation Trust, Steelhouse Lane, Birmingham, UK. guirish.solanki@bch.nhs.uk
authors: Guirish A
authors: GA
authors: Solanki
authors: Kenneth W
authors: KW
authors: Martin
authors: Mary C
authors: MC
authors: Theroux
authors: Christina
authors: C
authors: Lampe
authors: Klane K
authors: KK
authors: White
authors: Renée
authors: R
authors: Shediac
authors: Christian G
authors: CG
authors: Lampe
authors: Michael
authors: M
authors: Beck
authors: William G
authors: WG
authors: Mackenzie
authors: Christian J
authors: CJ
authors: Hendriksz
authors: Paul R
authors: PR
authors: Harmatz
mesh_terms: D003251:Constriction, Pathologic / Q000175:diagnosis* / Q000188:drug therapy; D006801:Humans; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis* / Q000188:drug therapy*; D013117:Spinal Cord Compression / Q000175:diagnosis* / Q000188:drug therapy*; D013131:Spine / Q000473:pathology
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