Spinal cord compression in Maroteaux-Lamy syndrome: case report and review of the literature with effects of enzyme replacement therapy
- Pediatr Neurosurg. 2012;48(3):191-8. doi: 10.1159/000345635.
- 1. Department of Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland. [email protected]
The purpose of this report is to review the literature regarding spinal cord compression in mucopolysaccharidosis type VI (MPS VI), to discuss the possible impact of enzyme replacement therapy (ERT) and to stress the necessity of timely surgical intervention. A 9.5-year-old female patient with severe MPS VI had been receiving ERT since the age of 7. After 2.5 years of treatment, she developed craniovertebral canal stenosis with spinal cord compression and cervical myelopathy.
Conclusions: (1) baseline cervical spine evaluation and regular neurological assessment should be performed in all MPS VI patients, (2) detailed neurological observation should be conducted in patients treated with ERT, especially in the period of improvement in the osteoarticular system, as ERT fails to prevent cervical myelopathy and (3) surgical decompression is required and in order to achieve a satisfying outcome it might be crucial to perform surgery at an early age.