JBJS | Cervical Stenosis and Spastic Quadriparesis in Morquio Disease (MPS IV): A Case Report with Twenty-six-Year Follow-up

The Journal of Bone & Joint Surgery, Volume 91, Issue 2

Case Reports | February 01, 2009

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

The Journal of Bone & Joint Surgery. 2009; 91:438-442 doi:10.2106/JBJS.H.00148

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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 longer^2-4. 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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mucopolysaccharidosis iv ; stenosis of cervix ; spastic quadriparesis

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