Abstract
We describe a 12-year-old girl with mucopolysaccharidosis VI (Maroteaux-Lamy's syndrome) caused by aryl sulphatase B deficiency. The characteristic changes in the craniocervical junction described in literature reports of these patients were studied by serial CT and MR scans. Imaging disclosed the spinal bone changes, evolution of lesions and their direct or indirect effect on the neuraxis. In addition to causing clinical signs of bulb-spinal cord compression, narrowing of the foramen magnum and the cervical canal can lead to the development of hydrocephalus often encountered in patients with mucopolysaccharidosis. In our patient, the hydrocephalus was caused by impaired CSF drainage rather than compensatory hypertrophy secondary to the dysmyelinating nature of the disease. Serial CT and MR scans allowed us to monitor the clinical and morphological evolution of the mucopolysaccharidosis lesions, devising appropriate therapeutic strategies.
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