Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and
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ORIGINAL ARTICLE
Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management Guirish A. Solanki & Kenneth W. Martin & Mary C. Theroux & Christina Lampe & Klane K. White & Renée Shediac & Christian G. Lampe & Michael Beck & William G. Mackenzie & Christian J. Hendriksz & Paul R. Harmatz
Received: 10 October 2012 / Revised: 29 December 2012 / Accepted: 7 January 2013 / Published online: 6 February 2013 # The Author(s) 2013. This article is published with open access at Springerlink.com
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
Communicated by: Ed Wraith G. A. Solanki (*) Department of Paediatric Neurosurgery, Birmingham Children’s Hospital NHS Foundation Trust, Steelhouse lane, Birmingham B4 6NH, UK e-mail: [email protected] K. W. Martin : P. R. Harmatz Children’s Hospital and Research Center Oakland, Oakland, CA, USA M. C. Theroux : W. G. Mackenzie Alfred I. duPont Hospital for Children, Wilmington, DE, USA C. Lampe : M. Beck Children’s Hospital, University Medical Center, University of Mainz, 55131 Mainz, Germany K. K. White Seattle Children’s Hospital, University of Washington, Seattle, WA, USA R. Shediac BioMarin Pharmaceutical Inc., Novato, CA, USA C. G. Lampe Children’s Hospital, Horst Schmidt Clinics, 65199 Wiesbaden, Germany C. J. Hendriksz University of Manchester, Manchester Academic Health Science Centre, Salford Royal NHS Foundation Trust, Manchester, UK
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.
Introduction Mucopolysaccharidosis IVA (MPS IVA; OMIM 253000), also referred to as Morquio-Brailsford or Morquio A syndrome (Brailsford 1929; Morquio 1929), is an autosomal recessive lysosomal storage disorder caused by defective activity of N-acetyl-galactosamine-6-sulphate sulphatase (GALNS; EC 3.1.6.4), an enzyme that catalyzes the breakdown of two glycosaminoglycans (GAGs), keratan sulphate (
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