title: Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome.
abstract: Mucopolysaccharidosis IVA is an autosomal recessive condition caused by mutations in the GALNS gene, which encodes N-acetylgalactosamine-6-sulfatase, also called galactosamine-6-sulfatase (GALNS). A reduction in or absence of effective GALNS leads to faulty catabolism of keratan sulfate and chondroitin-6-sulfate within the lysosome; their accumulation causes cell, tissue, and organ dysfunction. The connective tissue, cartilage, ligaments, and bone of patients with Morquio A syndrome are particularly affected. Patients with Morquio A syndrome are at high risk of neurological complications because of their skeletal abnormalities; many patients are in danger of cervical myelopathy due to odontoid hypoplasia and ligamentous laxity leading to atlantoaxial subluxation. The multisystemic involvement of patients with Morquio A syndrome requires treatment by multidisciplinary teams; not all members of these teams may be aware of the potential for subluxation and quadriparesis. A multinational, multidisciplinary panel of 10 skeletal dysplasia or Morquio A syndrome specialists convened in Miami, FL on December 7 and 8, 2012 to develop consensus recommendations for early identification and effective management of spinal cord compression, for anesthesia and surgical best practices, and for effectual cardiac and respiratory management in patients with Morquio A syndrome. The target audience for these recommendations includes any physician who may encounter a patient with Morquio A syndrome, however doctors who do not have access to the full spectrum of specialists and resources needed to support patients with Morquio A syndrome should attempt to refer patients to a center that does. Physicians who manage Morquio A syndrome or comorbid conditions within specialty centers should review these expert panel recommendations and fully understand the implications of spinal cord instability for their own practices.
authors.affiliation: Division of Genetics, Birth Defects and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA. Electronic address: jcharrow@northwestern.edu.
authors.forename: Joel
authors.initials: J
authors.lastname: Charrow
authors.affiliation: Division of Neurosurgery, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA. Electronic address: talden@luriechildrens.org.
authors.forename: Tord D
authors.initials: TD
authors.lastname: Alden
authors.affiliation: Whitethorn Medical Communications, 130 Old Cassidy Avenue, Lexington, KY 40502, USA. Electronic address: catherine@whitethornmedical.com.
authors.forename: Catherine Ann R
authors.initials: CA
authors.lastname: Breathnach
authors.affiliation: Department of Paediatric Anaesthesia and Pain Management, The Royal Children's Hospital, Melbourne, Australia. Electronic address: geoff.frawley@rch.org.au.
authors.forename: Geoffrey P
authors.initials: GP
authors.lastname: Frawley
authors.affiliation: Department of Adult Inherited Metabolic Disorders, University of Manchester, Salford Royal NHS Foundation Trust, Clinical Science Building B105, Stott lane, Salford M6 8HD, England, UK. Electronic address: Chris.Hendriksz@srft.nhs.uk.
authors.forename: Christian J
authors.initials: CJ
authors.lastname: Hendriksz
authors.affiliation: Division of Metabolism, Connective Tissue Unit, University Children's Hospital Zurich, Steinwiessstrasse 75, CH-8032 Zurich, Switzerland. Electronic address: bianca.link@kispi.uzh.ch.
authors.forename: Bianca
authors.initials: B
authors.lastname: Link
authors.affiliation: Department of Orthopedic Surgery, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803-3607, USA; Jefferson Medical College, 1600 Rockland Road, Wilmington, DE 19803-3607, USA. Electronic address: wmackenz@nemours.org.
authors.forename: William G
authors.initials: WG
authors.lastname: Mackenzie
authors.affiliation: Neuroradiology, University of Salerno, Via S. Allende 1, 84081, Salerno, Italy. Electronic address: rmanara@unisa.it.
authors.forename: Renzo
authors.initials: R
authors.lastname: Manara
authors.affiliation: Academic Unit of Child Health, Room C4, Stephenson Wing, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield, England, UK. Electronic address: amaka.offiah@nhs.net.
authors.forename: Amaka C
authors.initials: AC
authors.lastname: Offiah
authors.affiliation: Department of Neuropediatrics, Fundación Cardioinfantil, Universidad del Rosario, 163rd Street A No. 13B-60, Bogotá, Colombia. Electronic address: docsolano@gmail.com.
authors.forename: Martha L
authors.initials: ML
authors.lastname: Solano
authors.affiliation: Department of Anesthesiology & Critical Care, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803-3607, USA. Electronic address: Mary.Theroux@nemours.org.
authors.forename: Mary
authors.initials: M
authors.lastname: Theroux
mesh_terms: D006801:Humans; D009085:Mucopolysaccharidosis IV / Q000150:complications* / Q000235:genetics; D019990:Perioperative Care; D013117:Spinal Cord Compression / Q000175:diagnosis* / Q000209:etiology / Q000601:surgery*
keywords: Atlanto axial fusion; GALNS protein, human; Intubation, endotracheal; MPS IVA; Practice guideline; Spinal cord compression