Presentation
Failure to walk since the age of two, with normal development in the first two years of life.
Patient Data
Age: 3 years
Gender: Male
From the case:
Morquio syndrome
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Diffuse platyspondyly of the spinal vertebrae, thoracolumbar kyphoscoliosis, hypoplastic odontoid process, multilevel spinal canal stenosis from posterior vertebral body scalloping.
Case Discussion
Morquio syndrome is a rare lysosomal storage disease characterized by skeletal dysplasia due to an excess deposition of keratan sulfate and/or chondroitin-6-sulfate. The disease typically begins around the age of two and has normal brain development, as seen in this case.
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