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Cervical Stenosis and Spastic Quadriparesis in Morquio Disease (MPS IV)A Case Report with Twenty-six-Year Follow-up
Klane K. White, MD, MSc1; Suzanne Steinman, MD2; Scott J. Mubarak, MD2
1 Department of Orthopedic Surgery, Seattle Children's Hospital, 4800 Sand Point Way, W-7706, Seattle, WA 98105. E-mail address: klane.white@seattlechildrens.org
2 Department of Orthopaedic Surgery, Rady Children's Hospital, University of California at San Diego, 3030 Children's Way, Suite 410, San Diego, CA 92123
View Disclosures and Other Information
Disclosure: The authors did not receive any outside funding or grants in support of their research for or preparation of this work. Neither they nor a member of their immediate families received payments or other benefits or a commitment or agreement to provide such benefits from a commercial entity. No commercial entity paid or directed, or agreed to pay or direct, any benefits to any research fund, foundation, division, center, clinical practice, or other charitable or nonprofit organization with which the authors, or a member of their immediate families, are affiliated or associated.
Investigation performed at the Department of Orthopaedic Surgery, Rady Children's Hospital of San Diego, San Diego, California

The Journal of Bone and Joint Surgery, Inc.
J Bone Joint Surg Am, 2009 Feb 01;91(2):438-442. doi: 10.2106/JBJS.H.00148
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Extract

The mucopolysaccharidoses (MPS) are a family of lysosomal storage diseases that result in the abnormal accumulation of glycosaminoglycans throughout the body1. There is a broad spectrum in severity of expression of the musculoskeletal and neurological manifestations of these diseases, ranging from an early and obvious presentation, with rapid degeneration and death, to a nearly asymptomatic phenotype and normal life expectancy. Morquio disease (MPS IV) is an autosomal-recessive defect in the activity of one of two enzymes, N-acetylgalactosamine-6-sulfatase (MPS IVA) or ß-galactosidase (MPS IVB), resulting in the accumulation of keratan sulfate and chondroitin-6 sulfate2. The estimated incidence of this disease ranges from 1 in 76,000 to 1 in 450,000 live births, with affected individuals typically living into their third decade, and frequently longer2-4. MPS IV is the prototypical MPS disorder with regard to the expression of dysostosis multiplex. This pervasive skeletal dysplasia consists of a short-trunked dwarfism, thoracolumbar kyphosis, hip dysplasia, genu valgum, carpal tunnel syndrome, and cervical stenosis and instability5. Unlike other forms of MPS associated with these severe physical manifestations, individuals with MPS IV have and retain normal intelligence throughout life1.
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    These activities have been planned and implemented in accordance with the Essential Areas and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint sponsorship of the American Academy of Orthopaedic Surgeons and The Journal of Bone and Joint Surgery, Inc. The American Academy of Orthopaedic Surgeons is accredited by the ACCME to provide continuing medical education for physicians.
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