RT Journal
A1 White, Klane K.
A1 Steinman, Suzanne
A1 Mubarak, Scott J.
T1 Cervical Stenosis and Spastic Quadriparesis in Morquio Disease (MPS IV)A Case Report with Twenty-six-Year Follow-up
JF The Journal of Bone & Joint Surgery
JO The Journal of Bone & Joint Surgery
YR 2009
FD February 1
VO 91
IS 2
SP 438
OP 442
DO 10.2106/JBJS.H.00148
UL http://dx.doi.org/10.2106/JBJS.H.00148
AB 
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.