Mucopolysaccharidoses and spinal cord compression: case report and review of the literature with implications of bone marrow transplantation.

Abstract

We present a patient with mucopolysaccharidosis with spinal cord compression, and we review previously published cases. This is the first published case of a patient with mucopolysaccharidosis with spinal cord compression who has undergone bone marrow transplantation. A 2-year-old patient with Hurler syndrome underwent bone marrow transplantation. Although the bone marrow transplantation improved many of the systemic effects of Hurler syndrome, the patient presented at 8 years of age with a cervical myelopathy. Magnetic resonance imaging revealed soft tissue compression of the upper cervical cord. The literature review demonstrates that spastic tetraparesis, secondary to cervical cord compression, is the most common presentation of this subgroup of patients. A suboccipital craniectomy and C1-C5 laminectomy and decompression with duraplasty were performed. Pathological examination of compressive soft tissue and lamina was consistent with mucopolysaccharidosis. Postoperatively, the patient showed substantial improvement in neurological function. Mucopolysaccharidoses can induce a compressive "metabolic myelopathy." Decompressive procedures have shown significant improvement in neurological function in the majority of patients without spinal instability. Bone marrow transplantation may allow more patients with mucopolysaccharidoses to survive long enough to require neurosurgical treatment in the future. The effect of bone marrow transplantation on the prevention of spinal cord compression is unclear.